Estudio EDEN-16: sodio plasmático determinado a la llegada a urgencias como indicador de gravedad en pacientes ancianos / Plasma sodium concentration in older patients as an indicator of severity in emergencies: Results from the Emergency Department and Elder Needs-16 study

Objetivo: Estudiar los factores basales asociados a hiponatremia e hipernatremia en pacientes mayores atendidos en urgencias y la relación de estas disnatremias con eventos indicadores de gravedad. Método: Se incluyeron durante una semana a todos los pacientes atendidos en 52 servicios de urgencias hospitalarios españoles de edad $ 65 años con determinación de sodio plasmático. Se formaron tres grupos: sodio normal (135-145 mmol/L), hiponatremia (< 135 mmol/L) e hipernatremia (> 145 mmol/L). Se investigó la relación de 24 factores sociodemográficos, de comorbilidad, estado funcional basal y tratamiento crónico con hipo e hipernatremia. Como eventos de gravedad se recogieron necesidad de hospitalización, mortalidad intrahospitalaria, estancia prolongada en urgencias (> 12 horas) en dados de alta y hospitalización prolongada (> 7 días) en hospitalizados, y se analizó su relación con la concentración de sodio mediante curvas spline cúbicas restringidas ajustadas, tomando el valor 140 mmol/L como referencia. Resultados: Se incluyeron 13.368 pacientes (13,5% hiponatremia, 2,9% hipernatremia). La hiponatremia se asoció a edad $ 80 años, hipertensión arterial, diabetes mellitus, neoplasia activa, hepatopatía crónica, demencia, tratamiento con quimioterápicos y ayuda para la deambulación, y la hipernatremia a dependencia, necesidad de ayuda para deambular y demencia. La hospitalización fue del 40,8%, la mortalidad intrahospitalaria del 4,3%, la estancia prolongada en urgencias del 15,9% y la hospitalización prolongada del 49,8%. (AU)

Objectives: To study baseline factors associated with hypo- and hypernatremia in older patients attended in emergency departments (EDs) and explore the association between these dysnatremias and indicators of severity in an emergency. Material and methods: We included patients attended in 52 Spanish hospital EDs aged 65 years or older during a designated week. All included patients had to have a plasma sodium concentration on record. Patients were distributed in 3 groups according to sodium levels: normal, 135-145 mmol/L; hyponatremia, 135 mmol/L; or hypernatremia > 145 mmol/L. We analyzed associations between sodium concentration and 24 variables (sociodemographic information, measures of comorbidity and baseline functional status, and ongoing treatment for hypo- or hypernatremia). Indicators of the severity in emergencies were need for hospitalization, in-hospital mortality, prolonged ED stay (> 12 hours) in discharged patients, and prolonged hospital stay (> 7 days) in admitted patients. We used restricted cubic spline curves to analyze the associations between sodium concentration and severity indicators, using 140 mmol/L as the reference. Results: A total of 13 368 patients were included. Hyponatremia was diagnosed in 13.5% and hypernatremia in 2.9%. Hyponatremia was associated with age ($ 80 years), hypertension, diabetes mellitus, an active neoplasm, chronic liver disease, dementia, chemotherapy, and needing help to walk. Hypernatremia was associated with needing help to walk and dementia. The percentages of cases with severity indicators were as follows: hospital admission, 40.8%; in-hospital mortality, 4.3%; prolonged ED stay, 15.9%; and prolonged hospital stay, 49.8%. (AU)

Plasma sodium concentration in older patients as an indicator of severity in emergencies: Results from the Emergency Department and Elder Needs-16 study. / Estudio EDEN-16: sodio plasmático determinado a la llegada a urgencias como indicador de gravedad en pacientes ancianos.

OBJECTIVES: To study baseline factors associated with hypo- and hypernatremia in older patients attended in emergency departments (EDs) and explore the association between these dysnatremias and indicators of severity in an emergency. MATERIAL AND METHODS: We included patients attended in 52 Spanish hospital EDs aged 65 years or older during a designated week. All included patients had to have a plasma sodium concentration on record. Patients were distributed in 3 groups according to sodium levels: normal, 135-145 mmol/L; hyponatremia, 135 mmol/L; or hypernatremia > 145 mmol/L. We analyzed associations between sodium concentration and 24 variables (sociodemographic information, measures of comorbidity and baseline functional status, and ongoing treatment for hypo- or hypernatremia). Indicators of the severity in emergencies were need for hospitalization, in-hospital mortality, prolonged ED stay (> 12 hours) in discharged patients, and prolonged hospital stay (> 7 days) in admitted patients. We used restricted cubic spline curves to analyze the associations between sodium concentration and severity indicators, using 140 mmol/L as the reference. RESULTS: A total of 13 368 patients were included. Hyponatremia was diagnosed in 13.5% and hypernatremia in 2.9%. Hyponatremia was associated with age ($ 80 years), hypertension, diabetes mellitus, an active neoplasm, chronic liver disease, dementia, chemotherapy, and needing help to walk. Hypernatremia was associated with needing help to walk and dementia. The percentages of cases with severity indicators were as follows: hospital admission, 40.8%; in-hospital mortality, 4.3%; prolonged ED stay, 15.9%; and prolonged hospital stay, 49.8%. Odds ratios revealed associations between lower sodium concentration cut points in patients with hyponatremia and increasing need for hospitalization (130 mmol/L, 2.24 [IC 95%, 2.00-2.52]; 120 mmol/L, 4.13 [3.08-5.56]; and 110 mmol/L, 7.61 [4.53-12.8]); risk for in-hospital death (130 mmol/L, 3.07 [2.40-3.92]; 120 mmol/L, 6.34 [4.22- 9.53]; and 110 mmol/L, 13.1 [6.53-26.3]); and risk for prolonged ED stay (130 mmol/L, 1.59 [1.30-1.95]; 120 mmol/L, 2.77 [1.69-4.56]; and 110 mmol/L, 4.83 [2.03-11.5]). Higher sodium levels in patients with hypernatremia were associated with increasing need for hospitalization (150 mmol/L, 1.94 [1.61-2.34]; 160 mmol/L, 4.45 [2.88-6.87]; 170 mmol/L, 10.2 [5.1-20.3]; and 180 mmol/L, 23.3 [9.03-60.3]); risk for in-hospital death (150 mmol/L, 2.77 [2.16-3.55]; 160 mmol/L, 6.33 [4.11-9.75]; 170 mmol/L, 14.5 [7.45-28.1]; and 180 mmol/L, 33.1 [13.3-82.3]); and risk for prolonged ED stay (150 mmol/L, 2.03 [1.48-2.79]; 160 mmol/L, 4.23 [2.03-8.84]; 170 mmol/L, 8.83 [2.74-28.4]; and 180 mmol/L, 18.4 [3.69-91.7]). We found no association between either type of dysnatremia and prolonged hospital stay. CONCLUSION: Measurement of sodium plasma concentration in older patients in the ED can identify hypo- and hypernatremia, which are associated with higher risk for hospitalization, death, and prolonged ED stays regardless of the condition that gave rise to the dysnatremia.

OBJETIVO: Estudiar los factores basales asociados a hiponatremia e hipernatremia en pacientes mayores atendidos en urgencias y la relación de estas disnatremias con eventos indicadores de gravedad. METODO: Se incluyeron durante una semana a todos los pacientes atendidos en 52 servicios de urgencias hospitalarios españoles de edad $ 65 años con determinación de sodio plasmático. Se formaron tres grupos: sodio normal (135-145 mmol/L), hiponatremia ( 135 mmol/L) e hipernatremia (> 145 mmol/L). Se investigó la relación de 24 factores sociodemográficos, de comorbilidad, estado funcional basal y tratamiento crónico con hipo e hipernatremia. Como eventos de gravedad se recogieron necesidad de hospitalización, mortalidad intrahospitalaria, estancia prolongada en urgencias (> 12 horas) en dados de alta y hospitalización prolongada (> 7 días) en hospitalizados, y se analizó su relación con la concentración de sodio mediante curvas spline cúbicas restringidas ajustadas, tomando el valor 140 mmol/L como referencia. RESULTADOS: Se incluyeron 13.368 pacientes (13,5% hiponatremia, 2,9% hipernatremia). La hiponatremia se asoció a edad $ 80 años, hipertensión arterial, diabetes mellitus, neoplasia activa, hepatopatía crónica, demencia, tratamiento con quimioterápicos y ayuda para la deambulación, y la hipernatremia a dependencia, necesidad de ayuda para deambular y demencia. La hospitalización fue del 40,8%, la mortalidad intrahospitalaria del 4,3%, la estancia prolongada en urgencias del 15,9% y la hospitalización prolongada del 49,8%. A mayor hiponatremia, mayor necesidad de hospitalización (sodio 130 mmol/L: OR:2,24; IC 95%: 2,00-2,52; 120 mmol/L: 4,13, 3,08-5,56; 110 mmol/L: 7,61, 4,53-12,8), mortalidad intrahospitalaria (130 mmol/L: 3,07, 2,40-3,92; 120 mmol/L: 6,34, 4,22-9,53; 110 mmol/L: 13,1, 6,53-26,3) y estancia prolongada en urgencias (130 mmol/L: 1,59, 1,30-1,95; 120 mmol/L: 2,77, 1,69-4,56; 110 mmol/L: 4,83, 2,03-11,5), y a mayor hipernatremia mayor necesidad de hospitalización (150 mmol/L: 1,94, 1,61-2,34; 160 mmol/L: 4,45, 2,88-6,87; 170 mmol/L: 10,2, 5,1-20,3; 180 mmol/L: 23,3, 9,03-60,3), mortalidad intrahospitalaria (150 mmol/L: 2,77, 2,16-3,55; 160 mmol/L: 6,33, 4,11-9,75; 170 mmol/L: 14,5, 7,45-28,1; 180 mmol/L: 33,1, 13,3-82,3) y estancia prolongada en urgencias (150 mmol/L: 2,03, 1,48-2,79; 160 mmol/L: 4,23, 2,03-8,84; 170 mmol/L: 8,83, 2,74-28,4; 180 mmol/L: 18,4, 3,69-91,7). No hubo asociación entre estas disnatremias y hospitalización prolongada. CONCLUSIONES: El sodio plasmático determinado en urgencias en pacientes mayores permite identificar hiponatremias e hipernatremias, las cuales se asocian a un riesgo incrementado de hospitalización, mortalidad y estancia prolongada en urgencias independientemente de la causa que haya generado la disnatremia.

Hipernatremia en pacientes con estado crítico por afecciones neurológicas

Fundamento: los trastornos del sodio son los más comunes y menos entendidos en pacientes con lesión cerebral aguda debido al papel principal que desempeña el sistema nervioso central en la regulación de la homeostasis del sodio y agua lo que puede llevar a complicaciones graves y resultados adversos, incluyendo la muerte. Objetivo: determinar la contribución a la mortalidad de la hipernatremia en pacientes con estado crítico por afecciones neurológicas. Métodos: estudio observacional analítico sobre 55 pacientes que ingresaron en las unidades de atención al grave del Hospital Universitario Arnaldo Milián Castro, entre octubre del 2020 y mayo del 2022, con independencia del valor del sodio plasmático a su admisión en el servicio, así como durante su estadía en las unidades de atención al grave. Se emplearon métodos estadísticos univariados y bivariados en el análisis de los datos. Resultados: el promedio de edad fue de 60±16 años. Los diagnósticos más relevantes fueron la hemorragia intraparenquimatosa (56,37 %), el trauma craneoencefálico y el accidente cerebrovascular isquémico (ambos 30 %). Las concentraciones plasmáticas de sodio mostraron diferencias significativas (pX2= 0,000), siendo la media mayor a las 24 horas de ingreso (174,2±133,6) y la menor al 5to día (102,9±72,9). Existió correlación significativa entre las concentraciones plasmáticas de sodio al ingreso ( 24 h y 72 h) y el estado al egreso. En el análisis bivariado individual por período, solo a las 24 horas hubo relación significativa, en este periodo la hipernatremia contribuyó a la mortalidad en 1,78 veces más que en aquellos que no tenían el sodio elevado (OR=1,78 con IC: 1,39-3,4). Conclusiones: la hipernatremia en el paciente con estado crítico por afecciones neurológicas se asocia con incremento de la mortalidad.

Background: sodium disorders are the most common and least understood in patients with acute brain injury due to the major role played by the central nervous system in regulating sodium and water homeostasis, which can lead to serious complications and adverse outcomes, including death. Objective: to determine the hypernatremia contribution to mortality in patients with neurological conditions in critical state. Methods: longitudinal analytical observational study on 55 patients who were admitted to the acute care units at the Arnaldo Milián Castro University Hospital, between October 2020 and May 2022, regardless of the plasma sodium value upon admission to the service, as well as during their stay in the critical care units. Univariate and bivariate statistical methods were used in data analysis. Results: the average age was 60 ± 16 years. The most relevant diagnoses were intraparenchymal hemorrhage (56.37%), head trauma, and ischemic stroke (both 30%). Plasma sodium concentrations showed significant differences (pX2= 0.000), with the highest average at 24 hours of admission (174.2 ± 133.6) and the lowest at the 5th day (102.9 ± 72.9). There was a significant correlation between plasma sodium concentrations at admission, 24h and 72h with the state at discharge. In the individual bivariate analysis by period, there was only a significant relationship after 24 hours. In this period, hypernatremia contributed 1.78 times more to mortality than in those who did not have elevated sodium (OR=1.78 with CI: 1,39-3,4). Conclusions: hypernatremia in critically ill patients with neurological conditions is associated with increased mortality.

Poliuria en el adulto. Una aproximación diagnóstica basada en la fisiopatología / Polyuria in adults. A diagnostic approach based on pathophysiology

La poliuria es una condición clínica frecuente caracterizada por un volumen de orina inapropiadamente alto para los niveles de presión arterial y sodio plasmático del paciente (volumen de orina >3L/24h). Desde el punto de vista fisiopatológico se clasifica en 2 tipos: debido a una mayor excreción de solutos (osmolaridad urinaria >300mOsm/L) o debido a una incapacidad de aumentar la concentración de solutos (osmolaridad urinaria <150mOsm/L). En ocasiones pueden coexistir ambos mecanismos (osmolaridad urinaria 150-300mOsm/L). La poliuria supone un reto diagnóstico y su tratamiento correcto exige una evaluación de la historia clínica, la determinación de la osmolaridad urinaria, la estimación del aclaramiento de agua libre, el uso de pruebas de deprivación hídrica en la poliuria acuosa y la medición de electrólitos en sangre y orina en el caso de la poliuria osmótica (AU)

Polyuria is a common clinical condition characterized by a urine output that is inappropriately high (more than 3 liters in 24 hours) for the patient's blood pressure and plasma sodium levels. From a pathophysiological point of view, it is classified into two types: polyuria due to a greater excretion of solutes (urine osmolality >300 mOsm/L) or due to an inability to increase solute concentration (urine osmolality <150 mOsm/L). Sometimes both mechanisms can coexist (urine osmolality 150-300 mOsm/L). Polyuria is a diagnostic challenge and its proper treatment requires an evaluation of the medical record, determination of urine osmolality, estimation of free water clearance, use of water deprivation tests in aqueous polyuria, and measurement of electrolytes in blood and urine in the case of osmotic polyuria (AU)

Polyuria in adults. A diagnostic approach based on pathophysiology.

Polyuria is a common clinical condition characterized by a urine output that is inappropriately high (more than 3 L in 24 h) for the patient's blood pressure and plasma sodium levels. From a pathophysiological point of view, it is classified into two types: polyuria due to a greater excretion of solutes (urine osmolality >300 mOsm/L) or due to an inability to increase solute concentration (urine osmolality <150 mOsm/L). Sometimes both mechanisms can coexist (urine osmolality 150-300 mOsm/L). Polyuria is a diagnostic challenge and its proper treatment requires an evaluation of the medical record, determination of urine osmolality, estimation of free water clearance, use of water deprivation tests in aqueous polyuria, and measurement of electrolytes in blood and urine in the case of osmotic polyuria.

Complicações metabólicas relacionadas à terapia de nutrição parenteral em pacientes hospitalizados / Metabolic complications related to parenteral nutrition therapy in hospitalized patients

Investigar as complicações metabólicas relacionadas à administração da terapia nutricional parenteral (TNP) e sua relação com o desfecho clínico de pacientes hospitalizados. Métodos: Estudo longitudinal retrospectivo realizado com pacientes internados em hospital público referência no atendimento de urgências e emergências da cidade de Goiânia no período de setembro de 2020 a fevereiro de 2021. A coleta de dados foi realizada por meio de consulta aos prontuários eletrônicos. As informações foram coletadas após o primeiro dia de uso da NP até o desfecho clínico -alta, óbito ou descontinuidade da NP. Resultados: A amostra foi constituída por 28 pacientes em uso de nutrição parenteral no hospital durante a etapa de coleta dedados. Desses pacientes a maioria era do sexo masculino, com média de idade de 46,78 anos. As indicações mais frequentes para o uso da terapia nutricional parenteral foram: repouso,abdome agudo e pós-operatório. As complicações mais prevalentes foram a hipocalemia, hipomagnesemia, uremia e a hiponatremia e o desfecho clínico mais frequente foi o óbito. Encontrou-se relação entre desfecho clínico e presença de hipernatremia (p=0,010), ocorrendo a alta hospitalar exclusivamente naqueles pacientes que não apresentaram hipernatremia. E ainda houve relação marginal (p=0,053) entre desfecho clínico e local da internação, sendo que foi mais frequente o óbito naqueles admitidos na unidade de terapia intensiva. Conclusão: Não houve associação entre a TNP e as complicações metabólicas. Todavia, observou-se relação entre hipernatremia e mortalidade, sendo esta mais prevalente em pacientes internados nas unidades de terapia intensiva (UTIs). Nessa amostra, a complicação metabólica mais observada foi a hipocalemia

To investigate the metabolic complication related to administration of the Parenteral Nutrition Therapy (PNT) and their relation to the clinical outcome of hospitalized patients. Methods: retrospective longitudinal study carried with interned patients at a public hospital of standart in the urgency and emergency care from the Goiânia city during the period from september2020 to february 2021. The data capture was realized through consultation to the electronic record. The information was collected after the first day use of NP to clinical outcome -discharge, death or discontinuation of NP. Results: The sample was composed by 28 patients in use of parenteral nutrition at hospital during the data capture. The majority of these patients were male, with mean age of 46-78 anos. The indications more frequent to the use of parenteral nutrition therapy were: rest, acute abdomen and pos-operative. The complications more prevalent were hypokalemia, hypomagnesemia, uremia and hyponatremia. And the clinical outcome more frequent was death. A relationship between clinical outcome and hypernatremia presence (p=0,010) was found, occurring the hospitalar discharge exclusively in those patients which did not submit to hypernatremia. And there was still a marginal relationship (p=0,053) between clinical outcome and hospitalization, which was more frequent the death in those admitted in intensive care units. Conclusion: There was no association between the PNT and the metabolic complications. However, there was an observed relationship between hypernatremia and mortality, while more prevalent in patients staying in the intensive care unit (ICU). In this sample, the metabolic complication most observed was hypokalemia

Anquiloglòssia com a causa de deshidratació hipernatrèmica neonatal / Anquiloglosia como causa de la deshidratación hipernatrémica neonatal / Ankyloglossia as a cause of neonatal hypernatremic dehydration

Introducció: L’anquiloglòssia és una malformació lingualque pot causar dificultat en els moviments de la llengua ide la mandíbula dels nadons, i que provoca dolor als mugrons de la mare, una succió dèbil i una inadequada transferència de llet durant les preses al pit. Això pot ocasionaruna pèrdua de pes i un deslletament precoç si no es detecta i no es tracta. Presentem el cas de dos nadons ambanquiloglòssia i dificultats en la lactància materna que esvan complicar amb una deshidratació hipernatrèmica.Observació clínica: Ambdós nadons van patir una deshidratació hipernatrèmica sense signes d’infecció als deu diesde vida. Tots dos tenien anquiloglòssia, no tractada en elprimer cas, i no diagnosticada en el segon. L’anquiloglòssiadel segon cas es va diagnosticar posteriorment, arran de lapresentació del primer. La frenectomia feta al primer casva permetre la relactació completa, cosa que no es va aconseguir en el segon.Comentaris: Les dificultats que el tel sublingual curt potprovocar a la lactància poden ocasionar una deshidratacióhipernatrèmica greu. És important detectar l’anquiloglòssiaper poder fer un seguiment estret d’aquests nadons i tractar els casos simptomàtics. L’exploració del tel sublingualhauria de ser sistemàtica en l’exploració física inicial detots els nounats.(AU)

Introducción: La anquiloglosia es una malformación lingual quepuede causar dificultad en los movimientos de la lengua y de lamandíbula de los recién nacidos, provocando dolor en los pezonesde la madre, una succión débil y una inadecuada transferencia deleche durante las tomas al pecho. Ello puede ocasionar una pérdida de peso y un destete precoz si no se detecta y no se trata.Presentamos el caso de dos recién nacidos con anquiloglosia ydificultades en la lactancia materna que se complicaron con unadeshidratación hipernatrémica Observación clínica: Ambos sufrieron una deshidratación hipernatrémica sin signos de infección a los diez días de vida. Ambostenían anquiloglosia, sin tratar en el caso 1 y sin diagnosticar enel caso 2. La anquiloglosia del segundo caso se diagnosticó posteriormente, tras la presentación del primero. La frenectomía realizada en el primer caso permitió la relactación completa, que no selogró en el segundo.Comentarios: Las dificultades que el frenillo sublingual corto puedeprovocar en la lactancia pueden ocasionar una deshidratación hipernatrémica grave. Es importante detectar la presencia de anquiloglosia para poder realizar un seguimiento estrecho de estos recién nacidos y tratar los casos sintomáticos. La exploración delfrenillo sublingual debería de ser sistemática en la exploración física inicial de todos los neonatos.(AU)

Introduction: Ankyloglossia is a lingual malformation that may causedifficulty in tongue and mandibular movements in the newborn resulting in nipple pain in the mother, weak suction and inadequatemilk transfer during breastfeeding, which may lead to weight lossand an early cessation of breastfeeding if undetected and untreated.We report the case of two tonguetied neonates with breastfeedingdifficulties that presented with neonatal hypernatremic dehydration.Case report: Both infants experienced a hypernatremic dehydration, with no signs of infection, at 10 days of life. Both had ankyloglossia, which was untreated in case 1 and undiagnosed in case 2.The undetected ankyloglossia of case 2 was diagnosed a posterioriafter the identification of case 1. The frenotomy eventually performed in case 1 enabled complete relactation, which was not achieved in case 2.Comments: Breastfeeding difficulties caused by tonguetie maylead to severe hypernatremic dehydration. It is important to detectthe presence of ankyloglossia in all affected newborns so thatsymptomatic cases can be closely monitored and treated. Screening for ankyloglossia should be routinely performed at the initialphysical examination of all neonates.(AU)

Trastornos del Sodio

RESUMEN El Sodio es uno de los principales cationes extracelulares que se encarga de controlar el volumen extracelular y la presión sanguínea. El Sodio ingresa al organismo de los alimentos y las bebidas y lo elimina principalmente en el sudor y en la orina. Una función renal intacta mantiene una concentración constante de Sodio, ajustando la cantidad eliminada en la orina; cuando la ingesta y la pérdida de Sodio no están en equilibrio, se altera la cantidad total de Sodio en el organismo. Estos cambios en las concentraciones de Sodio provocan trastornos del balance de agua. Tanto la hiponatremia (Na 145 mEq/L) causan principalmente síntomas neurológicos. La instauración de los síntomas relacionados con la hiponatremia está dada por la gravedad y rapidez del cambio de concentración plasmática del Sodio. En individuos sanos, la ingestión de agua no conduce a hiponatremia porque la liberación suprimida de hormona antidiurética (ADH) permite que el exceso de agua se excrete en una orina diluida. Esta revisión bibliográfica se basa en estudios y guías clínicas actualizadas, cuyo objetivo es facilitar de manera más resumida, práctica y esquemática la corrección de los trastornos del Sodio.

ABSTRACT Sodium is one of the main extracellular cations that is responsible for controlling extracellular volume and blood pressure. Sodium enters the body from food and drink and is eliminated mainly in sweat and urine. An intact kidney function maintains a constant sodium concentration, adjusting the amount excreted in the urine. When sodium intake and loss are not in balance, the total amount of sodium in the body is altered. These changes in sodium concentrations cause disturbances in the water balance. Both hyponatremia (Na 145 mEq/L) mainly cause neurological symptoms. The onset of symptoms related to hyponatremia is due to the severity and rapidity of the change in plasma sodium concentration. In healthy individuals, ingestion of water does not lead to hyponatremia because the suppressed release of antidiuretic hormone (ADH), allows excess water to be excreted in dilute urine. This bibliographic review is based on updated studies and clinical guidelines, the objective of which is to facilitate the correction of sodium disorders in a more summarized, practical and schematic way.

Caracterización de recién nacidos a término con deshidratación hipernatrémica / Characterization of full term newborns with hypernatremic dehydration

INTRODUCCIÓN: La deshidratación hipernatrémica neonatal es una condición grave y su incidencia se ha incre mentado en los últimos años, repercutiendo en complicaciones que llevan a la hospitalización del recién nacido. OBJETIVO: Describir las características clínicas y de laboratorio de recién nacidos a término con diagnóstico de deshidratación hipernatremica. PACIENTES Y MÉTODO: Estudio observacional descriptivo de recién nacidos a término que se hospitalizaron por deshidratación hiperna trémica entre los años 2014 y 2016. Se incluyeron recién nacidos a término mayores de 37 semanas con signos clínicos de deshidratación (mucosas secas, fontanela deprimida, llanto sin lágrimas, signos de pliegue cutáneo) y/o pérdida excesiva de peso mayor de 7% y sodio sérico mayor a 145 mEq/L. Se registraron variables sociodemográficas y bioquímicas para su análisis. RESULTADOS: Se incluyeron 43 neonatos. El 60,5% de sus madres fueron primigestantes, el 90% de los neonatos recibieron lactancia materna exclusiva, las madres reportaron problemas en la lactancia materna en el 76,7%. La pérdida de peso al ingreso con respecto al peso de nacimiento fue de 15,3% en promedio. El 83,3% contaba con seguro de salud público. 65,1% presentó signos clínicos de deshidra tación al ingreso y 83,5% signos neurológicos transitorios. El promedio de sodio fue de 155 mEq/L al ingreso. El descenso de sodio en las primeras 24 horas de manejo fue 7,74 mEq/L (0,32mEq/L por hora). La corrección de la hipernatremia fue en el 55,8% por vía oral y la estancia hospitalaria de 4 días en promedio. CONCLUSIONES: Los problemas de alimentación se presentaron en un (76%) madres primigestantes en un (88,4%). El 90,6% de esta población administraban lactancia materna exclusiva, resultados que pueden contribuir para alertar al profesional de la salud a identificar de forma oportuna, signos de alarma y un control precoz posterior al alta del puerperio y a la toma de medidas preventivas.

INTRODUCTION: The hypernatremic neonatal dehydration is a severe condition whose incidence has increased in recent years resulting in complications leading to the hospitalization of the newborn. OBJECTIVE: Describe the clinical and laboratory characteristics of term-newborns with Hypernatremic Dehy dration diagnosis. PATIENTS AND METHOD: Descriptive observational study of hospitalized term- newborns due to hypernatremic dehydration between a period from 2014 to 2016. Term newborns over 37 weeks with clinical signs of dehydration (dry mucous membranes, depressed fontanel, tear less crying, signs of the cutaneous pleat), and/or excessive weight loss greater than 7% and serum sodium greater than 145 mEq/L were included. Sociodemographic and biochemical variables were recorded for analysis. RESULTS: 43 neonates were included. 60.5 percent of their mothers were pri- miparous, 90 percent of neonates received exclusive breastfeeding, mothers reported breastfeeding problems in 76.7 percent. Incoming neonates reported weight loss compared to birth weight at 15.3% on average. 83.3% had public health insurance. 65.1% had dehydration clinical signs at entry and 83.5% transient neurological signs. The average sodium was 155 mEq/L at revenue. The sodium decrease in the first 24 hours of handling was 7.74 mEq/L (0.32mEq/L per hour). The correction of the hypernatremia was 55.8% by oral intake and 4 days hospital stay on average. CONCLUSIONS: The feeding's problems came up in a (76%), primiparous mothers in an (88.4%). 90.6 percent of this population administered exclusive breastfeeding, results that can help to alert the health professional to timely identification, warning signs, and early post-discharge control and preventive measures.

Fluidoterapia y electrolitos parenterales en pediatría / Fluid therapy and electrolytes in pediatrics

RESUMEN La administración de líquidos y electrolitos parenterales es una terapia fundamental de soporte en niños agudamente enfermos si la vía oral no permite la administración de la cantidad o composición requeridas de fluidos, por ejemplo en enfermedades de tipo gastrointestinal, respiratorio, neurológico, o en el período transoperatorio. Al momento de planificar la administración de líquidos y electrolitos parenterales en niños a partir del mes de edad, se debe considerar componentes relacionados con la cantidad de líquidos a infundir considerando los requerimientos secundarios a pérdidas hídricas habituales o requerimientos para reacciones metabólicas, evaluar el grado de deshidratación para la administración de líquidos que complementen el déficit, corregir las pérdidas que se han producido secundarios a una noxa externa (enfermedad, procedimiento quirúrgico, trauma, etc.) y finalmente aportar la cantidad adecuada de fluido que permita re-establecer la perfusión tisular. Es necesario conocer los cambios instaurados basados en la evidencia actual con la finalidad de incorporar a el manejo frecuente de los pacientes considerando también la toxicidad ya sean cualitativos o cuantitativos de esta terapéutica tan necesaria en el manejo del paciente pediátrico

ABSTRACT The administration of parenteral fluids and electrolytes is a fundamental support therapy in acutely ill children if the oral route does not allow the ad-ministration of the required amount or composition of fluids, for example in gastrointestinal, respiratory, neurological, or transoperative diseas-es. When planning the administration of parenteral fluids and electrolytes in children from one month of age onwards, components related to the amount of fluids to be infused should be considered, taking into account the requirements secondary to habitual water loss or requirements for meta-bolic reactions, evaluating the degree of dehydration for the administration of fluids to supplement the deficit, correcting the losses that have oc-curred secondary to an external noxa (illness, surgical procedure, trauma, etc.) and finally providing the adequate amount of fluid to allow re-es-tablishment of tissue perfusion. It is necessary to know the changes established based on current evidence in order to incorporate to the frequent management of patients, also considering the toxicity, either qualitative or quantitative, of this therapy, so necessary in the management of the pediatric patient.

Hipodermóclise para correção de desidratação hiperosmolar e distúrbios eletrolíticos graves: relato de caso / Hypodermoclysis for correction of hyperosmolar dehydration and severe electrolyte disturbances: a case report

O tratamento de desidratação e distúrbios eletrolíticos graves é contraindicado por meio de hipodermóclise, mas o nível de evidência da recomendação se baseia na opinião de especialistas. Descreve-se caso clínico de paciente com idade avançada, com indicação de cuidados paliativos, que evoluiu com desidratação hiperosmolar com hipernatremia grave, injúria renal aguda e hipercalemia. Tratou-se a paciente com solução hipotônica por meio da técnica de hipodermóclise, com resolução completa do quadro. Conclui-se que há necessidade de mais estudos sobre o uso da hipodermóclise para o tratamento de distúrbios hidroeletrolíticos graves.

The treatment of dehydration and severe electrolyte disturbances using hypodermoclysis is usually contraindicated, but the level of evidence for its recommendation is based on expert opinion. This case report describes an older patient receiving palliative care who developed hyperosmolar dehydration with severe hypernatremia, acute kidney injury, and hyperkalemia. She was treated with hypodermoclysis using a hypotonic solution, which led to complete resolution of the condition. In conclusion, further studies on the use of hypodermoclysis for the treatment of severe hydroelectrolytic disorders are needed.

Manejo de deshidratación con alteración del sodio en pacientes pediátricos / Management of dehydration with sodium alteration in pediatric patients

Los cuadros de deshidratación son frecuentes en pediatría, muchos de ellos acompañados de alteraciones electrolíticas. La deshidratación asociada a trastornos del sodio puede implicar riesgos para la salud de los pacientes pediátricos tanto en el desarrollo del cuadro como en su tratamiento. Objetivo: crear un algoritmo de manejo de los cuadros de deshidratación asociados a lateraciones del sodio para manejo de pacientes pediátricos. Métodos: se realizó revisión de la literatura disponible sobre deshidratación con hiper e hiponatremia, en inglés y español, incluyendo libros y artículos de revistas. Se presenta en el actual documento los aspectos básicos sobre la fisiopatología de la deshidratación asociada a trastornos del sodio, su clínica, diagnóstico y manejo detallado, para el uso en la práctica clínica diaria.

Dehydration is common in pediatric patients, frequently accompanied with electrolite disturbances. Dehydration associated with sodium disturbances can involve risk for pediatric patient health during the development of the disease and during its treatment. Objective: to create an algorithm of management of dehydration with sodium disturbances in pediatric patients. Methods: review of literature about dehydration with hypernatremia and hyponatremia, in english and spanish, including books and published articles. We present in this document the basic aspects of physiopathology of dehydration with sodium disturbances, clinical presentation, diagnosis and detailed management, so it can be consulted for clinical practice.

The role of urea-induced osmotic diuresis and hypernatremia in a critically ill patient: case report and literature review / O papel da diurese osmótica induzida por ureia na geração de hipernatremia no paciente crítico: relato de caso e revisão da literatura

Abstract Hypernatremia is a common electrolyte problem at the intensive care setting, with a prevalence that can reach up to 25%. It is associated with a longer hospital stay and is an independent risk factor for mortality. We report a case of hypernatremia of multifactorial origin in the intensive care setting, emphasizing the role of osmotic diuresis due to excessive urea generation, an underdiagnosed and a not well-known cause of hypernatremia. This scenario may occur in patients using high doses of corticosteroids, with gastrointestinal bleeding, under diets and hyperprotein supplements, and with hypercatabolism, especially during the recovery phase of renal injury. Through the present teaching case, we discuss a clinical approach to the diagnosis of urea-induced osmotic diuresis and hypernatremia, highlighting the utility of the electrolyte-free water clearance concept in understanding the development of hypernatremia.

Resumo A hipernatremia é um distúrbio eletrolítico comum no ambiente de terapia intensiva, com uma prevalência que pode chegar a 25%. Está associada a maior tempo de internação hospitalar e é um fator de risco independente para a mortalidade. Este relato ilustra um caso de hipernatremia de origem multifatorial no ambiente de terapia intensiva. Destacaremos o papel da diurese osmótica por geração excessiva de ureia, uma causa de hipernatremia pouco conhecida e subdiagnosticada. Este cenário pode estar presente em pacientes em uso de elevadas doses de corticoides, com sangramento gastrointestinal, em uso de dietas e suplementos hiperproteicos e estado de hipercatabolismo, especialmente durante a fase de recuperação de injúria renal. A seguir, discutiremos uma abordagem clínica para o diagnóstico da hipernatremia secundária à diurese osmótica induzida por ureia, destacando a importância do conceito de clearance de água livre de eletrólitos nesse contexto.

Weight loss thresholds to detect early hypernatremia in newborns / Limites de perda de peso para detecção de hipernatremia precoce em recém-nascidos

ABSTRACT Objective: The literature indicates a single universal cut-off point for weight loss after birth for the risk of hypernatremia, without considering other factors. The aim of this study was to construct and internally validate cut-off points for the percentage weight loss associated with the risk of hypernatremia, taking into account risk factors. Methods: A prospective study with a three-day follow-up was conducted in 165 neonates with a gestational age ≥35 weeks. The main outcome variable was mild or moderate hypernatremia (serum sodium ≥ 145 mmol/L). Secondary variables (risk factors) were maternal and infant variables. A multivariate logistic regression model was constructed to predict hypernatremia, obtaining its probability and the optimal discriminant cut-off point for hypernatremia (receiver operating characteristic analysis). Based on this point, threshold weight loss values were obtained according to the other variables. These values were internally validated by bootstrapping. Results: There were 51 cases (30.9%) of hypernatremia. The mean percentage weight loss for hypernatremic infants was 8.6% and 6.0% for the rest. Associated variables in the multivariate model included greater weight loss, male gender, higher education level, multiparity, and cesarean delivery. The model had an area under the receiver operating characteristic curve of 0.84 (sensitivity = 77.6%; specificity = 73.2%). Similar values were obtained in the bootstrapping validation. The lowest percentage weight loss was 4.77%, for cesarean delivery in male infants of mothers with a higher education level. Conclusions: The weight loss percentage values depended on the type of delivery, parity, newborn gender, and level of maternal education. External studies are required to validate these values.

RESUMO Objetivo: A literatura indica um único ponto de corte universal na perda de peso após o nascimento para risco de hipernatremia, sem considerar outros fatores. Nosso objetivo foi criar e validar internamente pontos de corte para o percentual de perda de peso associado ao risco de hipernatremia considerando fatores de risco. Métodos: Foi feito um estudo prospectivo que incluiu 165 neonatos com idade gestacional ≥ 35 semanas, acompanhados por três dias. A principal variável de resultado foi hipernatremia leve ou moderada (sódio sérico ≥ 145 mmol/L). As variáveis secundárias (fatores de risco) foram variáveis maternas e dos neonatos. Um modelo multivariado de regressão logística foi criado para diagnosticar hipernatremia, obteve sua probabilidade e o ponto de corte discriminativo ideal para hipernatremia (análise da Característica de Operação do Receptor). Com base nesse ponto, obtivemos então os valores limites de perda de peso de acordo com as outras variáveis. Esses valores foram internamente validados por. Resultados: Há 51 casos (30,9%) de hipernatremia. O percentual de perda de peso para neonatos hipernatrêmicos foi 8,6% e 6,0% para o restante. As variáveis associadas no modelo multivariado incluíram maior perda de peso, sexo masculino, maior nível de escolaridade, multiparidade e cesárea. O modelo apresentou uma área sob a curva da Característica de Operação do Receptor de 0,84 (sensibilidade = 77,6%; especificidade = 73,2%). Valores semelhantes foram obtidos na validação da bootstrapping. O menor percentual de perda de peso foi 4,77% para cesárea em neonatos do sexo masculino de mães com maior nível de escolaridade. Conclusões: Os valores percentuais de perda de peso dependem do tipo de parto, paridade, sexo do recém-nascido e nível de escolaridade materna. São necessários estudos externos para validar esses valores.

[Risk factors for mortality after subarachnoid hemorrhage: a retrospective observational study]. / Fatores de risco para mortalidade após hemorragia subaracnoidea: estudo observacional retrospectivo.

BACKGROUND AND OBJECTIVES: Subarachnoid haemorrhage is an important cause of morbidity and mortality. The aim of the study was to determine predictors of mortality among patients with subarachnoid hemorrhage hospitalized in an Intensive Care Unit. METHODS: This is a retrospective study of patients with subarachnoid hemorrhage admitted to the Intensive Care Unit of our institution during a 7 year period (2009-2015). Data were collected from the Intensive Care Unit computerized database and the patients' chart reviews. RESULTS: We included in the study 107 patients with subarachnoid haemorrhage. A ruptured aneurysm was the cause of subarachnoid haemorrhage in 76 (71%) patients. The overall mortality was 40% (43 patients), and was significantly associated with septic shock, midline shift on CT scan, inter-hospital transfer, aspiration pneumonia and hypernatraemia during the first 72 hours of Intensive Care Unit stay. Multivariate analysis of patients with subarachnoid hemorrhage following an aneurysm rupture revealed that mortality was significantly associated with septic shock and hypernatremia during the first 72 hours of Intensive Care Unit stay, while early treatment of aneurysm (clipping or endovascular coiling) within the first 72 hours was identified as a predictor of a good prognosis. CONCLUSIONS: Transferred patients with subarachnoid haemorrhage had lower survival rates. Septic shock and hypernatraemia were important complications among critically ill patients with subarachnoid haemorrhage and were associated increased mortality.

Risk factors for mortality after subarachnoid hemorrhage: a retrospective observational study / Fatores de risco para mortalidade após hemorragia subaracnoidea: estudo observacional retrospectivo

Abstract Background and objectives: Subarachnoid hemorrhage is an important cause of morbidity and mortality. The aim of the study was to determine predictors of mortality among patients with subarachnoid hemorrhage hospitalized in an Intensive Care Unit. Methods: This is a retrospective study of patients with subarachnoid hemorrhage admitted to the Intensive of our institution during a 7 year period (2009-2015). Data were collected from the Intensive Care Unit computerized database and the patients' chart reviews. Results: We included in the study 107 patients with subarachnoid hemorrhage. A ruptured aneurysm was the cause of subarachnoid hemorrhage in 76 (71%) patients. The overall mortality was 40% (43 patients), and was significantly associated with septic shock, midline shift on CT scan, inter-hospital transfer, aspiration pneumonia and hypernatraemia during the first 72 hours of Intensive Care Unit stay. Multivariate analysis of patients with subarachnoid hemorrhage following an aneurysm rupture revealed that mortality was significantly associated with septic shock and hypernatremia during the first 72 hours of Intensive Care Unit stay, while early treatment of aneurysm (clipping or endovascular coiling) within the first 72 hours was identified as a predictor of a good prognosis. Conclusions: Transferred patients with subarachnoid hemorrhage had lower survival rates. Septic shock and hypernatraemia were important complications among critically ill patients with subarachnoid hemorrhage and were associated increased mortality.

Resumo Justificativa e objetivos: A hemorragia subaracnoidea é uma causa importante de morbidade e mortalidade. O objetivo do estudo foi determinar os preditivos de mortalidade entre os pacientes com hemorragia subaracnoidea internados em uma Unidade de Terapia Intensiva. Métodos: Estudo retrospectivo de pacientes com hemorragia subaracnoidea internados na Unidade de Terapia Intensiva de nossa instituição de 2009 a 2015. Os dados foram coletados do banco de dados eletrônico da Unidade de Terapia Intensiva e de revisões dos prontuários dos pacientes. Resultados: Incluímos no estudo 107 pacientes com hemorragia subaracnoidea. A ruptura de aneurisma foi a causa da hemorragia subaracnoidea em 76 pacientes (71%). A mortalidade geral foi de 40% (43 pacientes) e esteve significativamente associada ao choque séptico, desvio da linha média na tomografia computadorizada, transferência inter-hospitalar, pneumonia por aspiração e hipernatremia durante as primeiras 72 horas de internação na Unidade de Terapia Intensiva. A análise multivariada dos pacientes com hemorragia subaracnoidea pós-ruptura de aneurisma revelou que a mortalidade esteve significativamente associada ao choque séptico e hipernatremia nas primeiras 72 horas de permanência na Unidade de Terapia Intensiva, enquanto o tratamento precoce do aneurisma (clipagem ou embolização endovascular) nas primeiras 72 horas foi identificado como preditivo de um bom prognóstico. Conclusões: Os pacientes com hemorragia subaracnoidea transferidos apresentaram taxas menores de sobrevivência. Choque séptico e hipernatremia foram complicações importantes entre os pacientes gravemente enfermos com hemorragia subaracnoidea e foram associados ao aumento da mortalidade.

Complicações relacionadas ao uso de soluções hipotônicas e isotônicas / Complications related to the use of hypotonic and isotonic solutions

OBJETIVO: Comparar a incidência de hiponatremia e complicações relacionadas nas crianças internadas na UTI Pediátrica tratadas com solução isotônica e hipotônica. MÉTODOS: Estudo prospectivo, randomizado, tipo caso-controle. Grupo controle com manutenção de fluido hipotônico e grupo estudo com fluido isotônico. Incluído crianças admitidas na UTI Pediátrica do Hospital de Clínicas de Curitiba. Excluídos diabetes mellitus, diabetes insípidos, hepatopatia crônica e menos de quatro horas de hidratação. RESULTADOS: Assim como a osmolaridade, apesar de não observarmos significância estatística, o sódio sérico do grupo hipotônico teve uma queda principalmente nas primeiras 12 horas enquanto o sódio sérico do grupo isotônico teve aumento progressivo nas primeira 48 horas. Não houve hipernatremia nos pacientes que hidrataram com solução isotônica. CONCLUSÃO: Observado uma tendência a hiponatremia no grupo controle de solução hipotônica. Complicações como alterações neurológicas ocorreu apenas no grupo com solução hipotônica após 12 horas de hidratação, porém sem significância estatística

OBJECTIVE: To compare the incidence of hyponatremia and related complications in children hospitalized in the Pediatric ICU treated with isotonic and hypotonic solution. METHODS: Prospective, randomized, case-control study. Control group with maintenance of hypotonic fluid and study group with isotonic fluid. Including children admitted to the Pediatric ICU of the Hospital de Clínicas de Curitiba. Excluded diabetes mellitus, diabetes insipidus, chronic liver disease and less than four hours of hydration. RESULTS: Like osmolarity, although we did not observe statistical significance, the serum sodium of the hypotonic group had a decrease mainly in the first 12 hours while serum sodium from the isotonic group had a progressive increase in the first 48 hours. There was no hypernatremia in the patients who hydrated with isotonic solution. CONCLUSION: Hyponatremia was observed in the hypotonic solution control group. Complications such as neurological changes occurred only in the group with hypotonic solution after 12 hours of hydration, but without statistical significance

Weight loss thresholds to detect early hypernatremia in newborns.

OBJECTIVE: The literature indicates a single universal cut-off point for weight loss after birth for the risk of hypernatremia, without considering other factors. The aim of this study was to construct and internally validate cut-off points for the percentage weight loss associated with the risk of hypernatremia, taking into account risk factors. METHODS: A prospective study with a three-day follow-up was conducted in 165 neonates with a gestational age ≥35 weeks. The main outcome variable was mild or moderate hypernatremia (serum sodium≥145mmol/L). Secondary variables (risk factors) were maternal and infant variables. A multivariate logistic regression model was constructed to predict hypernatremia, obtaining its probability and the optimal discriminant cut-off point for hypernatremia (receiver operating characteristic analysis). Based on this point, threshold weight loss values were obtained according to the other variables. These values were internally validated by bootstrapping. RESULTS: There were 51 cases (30.9%) of hypernatremia. The mean percentage weight loss for hypernatremic infants was 8.6% and 6.0% for the rest. Associated variables in the multivariate model included greater weight loss, male gender, higher education level, multiparity, and cesarean delivery. The model had an area under the receiver operating characteristic curve of 0.84 (sensitivity=77.6%; specificity=73.2%). Similar values were obtained in the bootstrapping validation. The lowest percentage weight loss was 4.77%, for cesarean delivery in male infants of mothers with a higher education level. CONCLUSIONS: The weight loss percentage values depended on the type of delivery, parity, newborn gender, and level of maternal education. External studies are required to validate these values.

Desmielinización osmótica pontina y extrapontina durante un puerperio complicado / Osmotic demyelination pontine and extrapontine during complicated puerperium

La mielinolisis pontina central es una rara alteración neurológica de etiología desconocida. La causa más frecuente es el tratamiento de una hiponatremia cuando los niveles de sodio se elevan demasiado rápido. La lesión básica consiste en la destrucción de las vainas de mielina, que afecta parte o toda la base de la protuberancia en forma simétrica (desmielinización pontina). Los pacientes con esta enfermedad suelen presentar tetraparesia progresiva subaguda acompañada de parálisis seudobulbar con disartria e imposibilidad de protruir la lengua. Se presenta un estudio con el objetivo de describir el comportamiento de un caso de desmielinización osmótica en una paciente como parte de un puerperio complicado. Se trata de una paciente femenina, mestiza, de 33 años de edad, con embarazo complicado, secundario a cesárea por óbito fetal, tras la cual lleva ingreso en terapia intensiva. Luego de varias alteraciones hidroelectrolíticas se detecta cuadriplejia fláccida, con síndrome de enclaustramiento, con diagnóstico por neuroimagen de una desmielinización osmótica, con evolución favorable(AU)

Central pontine myelinolysis is a rare neurological disorder of unknown etiology. The most frequent cause is the treatment of hyponatremia when sodium levels rise too fast. The destruction of the myelin sheaths is the basic lesion, which affects part or the entire base of the protuberance symmetrically (pontine demyelination). Patients with this disease usually present subacute progressive tetraparesis accompanied by pseudobulbar paralysis with dysarthria and the inability to protrude their tongue. A study is presented with the objective of describing the behavior of a case of osmotic demyelination in a patient as part of complicated puerperium. This is a 33-year-old female patient, with complicated pregnancy, secondary to cesarean section due to fetal death, after which she is admitted to intensive care. After several hydroelectrolyte alterations, flaccid quadriplegia was detected, with Locked-in Syndrome, with neuroimaging diagnosis of osmotic demyelination, with a favorable evolution(AU)

Recém-nascido com deficiência de glicerol quinase: um caso clínico / Neonate with glycerol kinase deficiency: A clinical case

OBJETIVOS: Relatar o caso de um recém-nascido com deficiência de glicerol quinase, no qual foi identificada uma mutação isolada ainda não descrita no gene GK. DESCRIÇÃO DO CASO: Um recém-nascido com 10 dias de vida foi trazido ao serviço de urgência por recusa alimentar com 24 horas de evolução. Ao exame físico apresentava perda de 31% do peso de nascimento e sinais de desidratação. Os exames laboratoriais constataram presença de acidose metabólica com anion gap aumentado, creatinina 2,41mg/dL, ureia 306 mg/dL, hipernatremia (182mEq/L), hipercalemia (6,8mEq/L), hipercloremia (151mEq/L), transaminase glutâmico-oxalacética 879U/L, transaminase glutâmico-pirúvica 243U/L, triglicerídeos 725mg/dL. A cromotagrafia de ácidos orgânicos revelou hiperglicerolemia e glicerolúria compatíveis com deficiência de glicerol quinase. O estudo genético revelou uma mutação ainda não descrita: c.187T>C (p.S63P) em hemizigotia no gene GK. CONCLUSÕES: A causa mais frequente de desidratação hipernatrêmica no período neonatal é a hipogalatia materna. Nos casos mais graves de desidratação outras etiologias devem ser consideradas, incluindo causas metabólicas como a deficiência de glicerol quinase. Neste caso foi encontrada uma mutação no gene GK ainda não descrita.

AIMS: To report the case of a newborn with glycerol kinase deficiency, in which an isolated mutation not yet described in the GK gene was identified. CASE DESCRIPTION: A neonate with 10 days of age was brought to the emergency department for refusal to feed with 24 hours of evolution. Physical examination showed a loss of 31% of birth weight and signs of dehydration. Laboratory tests revealed a metabolic acidosis with increased anion gap, creatinine 2.41mg/dL, urea 306mg/dL, hypernatremia (182mEq/L), hyperkalemia (6.8mEq/L), hyperchloremia (151mEq/L), glutamic-oxalacetic transaminase 879U/L, glutamic-pyruvic transaminase 243U/L, triglycerides 725mg/dL. Chromotagraphy of organic acids revealed hyperglycerolemia and glyceroluria compatible with glycerol kinase deficiency. The genetic study revealed a mutation not yet described: c.187T>C (p.S63P) as hemizygote status in the GK gene. CONCLUSIONS: The most frequent cause of hypernatremic dehydration in the neonatal period is maternal hypogalactia. In more severe cases of dehydration, other etiologies should be considered, including metabolic causes such as glycerol kinase deficiency. In this case a mutation not yet described in the GK gene was found.