Sistemática para el manejo del equilibrio ácido-base en pacientes graves / Systemization for the management of acid-base balance in seriously ill patients

Introducción: Las alteraciones del equilibrio ácido-base pueden ser de carácter primario. En la mayoría de los casos dependen de la complicación de una enfermedad preexistente. La frecuencia de estos trastornos es elevada, especialmente, en enfermos hospitalizados en las unidades de atención al paciente grave. Su aparición conlleva implicaciones pronósticas significativas. Objetivo: Sistematizar sobre el estado actual del manejo del equilibrio ácido-base. Método: Se realizó una revisión bibliográfica en la que se utilizaron las herramientas del método científico. Se examinó toda la bibliografía disponible publicada en los últimos cinco años y así, elaborar una síntesis crítica, acorde al criterio y las competencias de los autores sobre la temática. Resultados: Se expone la importancia de la evaluación clínica, que unida a los niveles de PCO2, y de exceso o déficit de bases en una gasometría arterial, permiten identificar el trastorno ácido base existente. Igualmente, se destaca que el CO2 tiene una función clave en el control de la ventilación, así como las modificaciones que produce al flujo sanguíneo cerebral, el pH y el tono adrenérgico. Otro aspecto importante fue la reciente práctica clínica de la "hipercapnia permisiva" para reducir el metabolismo tisular y de esta manera, mejorar la función del surfactante e impedir la nitración de las proteínas. Conclusiones: El manejo de los desequilibrios ácido-base debe ser del dominio de todos los profesionales vinculados a la asistencia médica, pues el retraso de su diagnóstico puede empeorar la evolución y el pronóstico de los pacientes graves(AU)

Introduction: Acid-base balance alterations can be of a primary nature. In most cases, they depend on the complication of a pre-existing disease. The frequency of these disorders is high, especially in patients hospitalized in critical care units. Its appearance carries significant prognostic implications. Objective: To systematize the current state of acid-base balance management. Method: A bibliographic review was carried out, for which the tools of the scientific method were used. All the available bibliography, published in the last five years, was examined; thus, a critical synthesis was prepared, according to the criteria and competences of the authors regarding the subject. Results: The importance of the clinical evaluation is exposed, which, together with PCO2 levels as well as excess or deficit of bases in an arterial blood gas, allow to identify the existing acid-base disorder. Likewise, it is highlighted that CO2 has a key function in ventilation control, together with the modifications it produces on cerebral blood flow, pH and adrenergic tone. Another important aspect was the recent clinical practice of "permissive hypercapnia" to reduce tissue metabolism and thus improve surfactant function and prevent protein nitration. Conclusions: The management of acid-base imbalances should be mastered by all professionals associated to medical care, since any delay in its diagnosis can worsen the evolution and prognosis of seriously ill patients(AU)

Recovery from severe metabolic alkalosis with acute kidney injury due to gastric cancer: a case report / Journal of Rural Medicine

Objective: Most cases of severe metabolic alkalosis have many causes that may result in renal failure and death. Therefore, these should be treated promptly for successful recovery.Patient: A 61-year-old man was hospitalized due to an acute kidney injury (creatinine level of 4.36 mg/dL) after a 3-month history of anorexia and recurrent vomiting. He had been treated for tuberculosis in the past.Results: Blood gas analysis revealed severe metabolic alkalosis with pH=7.66, HCO3=94 mmol/L, and pCO2=82.0 mmHg. Routine biochemical examination revealed severe hypokalemia (K 2.9 mEq/L) that was associated with prolonged QTc interval (0.52 seconds) on the electrocardiogram. Gastrofiberscopic examination also revealed severe stenosis and ulcerated scarring of the gastric pylorus and severe esophagitis. Intravenous hydration and correction of hypokalemia improved renal function and resolved metabolic alkalosis. An investigation that was repeated after 6 days revealed a creatinine level of 1.58 mg/dL, pH=7.47, HCO3=23.4 mmol/L, K=3.6 mEq/L, and QTc of 0.45 seconds. The patient underwent gastrectomy and adenocarcinoma was observed.Conclusion: We described a resolved case of severe metabolic alkalosis and acute kidney injury in a rural medical setting following conservative management.

Síndrome de Bartter: una tubulopatía infrecuente de inicio antenatal / Bartter syndrome: an infrequent tubulopathy of prenatal onset

INTRODUCCIÓN: Síndrome de Bartter (SB) es una tubulopatía hereditaria, poco frecuente que tiene dos formas de presentación, forma grave de inicio antenatal (Bartter neonatal) y forma de aparición más tardía (Bartter clásico). En su forma antenatal se manifiesta con poliuria fetal, polihidroamnios de inicio precoz y severo, parto prematuro secundario y restricción de crecimiento intrauterino. La etapa postnatal presenta episodios recurrentes de deshidratación y desbalance electrolítico que pue den comprometer la sobrevida del paciente. OBJETIVO: Comunicar un caso de SB neonatal y presentar una revisión de la literatura en esta patología. CASO CLÍNICO: Prematuro 35 semanas, con antecedente de severo polihidroamnios diagnosticado a las 27 semanas de gestación, sin causa aparente. Desde su nacimiento evolucionó con poliuria y alcalosis metabólica hipokalémica haciendo plantear, en primera semana de vida, diagnóstico de Síndrome de Bartter neonatal. El laboratorio confirmó per didas urinarias de electrólitos. Fue manejado con balance hídrico estricto y suplementación de sodio y potasio, logrando estabilizar peso y desbalance electrolítico. Se mantiene en control nefrológico, con suplementación de gluconato de potasio y cloruro de sodio. Se agregó ibuprofeno al cuarto mes como parte del tratamiento. Al séptimo mes de vida, ecografía renal demostró nefrocalcinosis. Al año de vida se evidenció hipoacusia sensorioneural profunda requiriendo implante coclear. CONCLUSIÓN: Presencia de polihidroamnios severo de aparición temprana sin causa identificada debe hacer sospechar SB, que aun siendo infrecuente determina graves alteraciones hidroelectrolíticas y debe ser iniciado su tratamiento precozmente.

INTRODUCTION: Bartter syndrome (BS) is a rare inherited tubulopathy that has two presentation forms, the first one is a severe form of antenatal onset (neonatal Bartter) and the second one is a later on set form during the first years of life (classic Bartter). In the antenatal form, it manifests with fetal polyuria, polyhydramnios of early and severe onset, premature delivery, and intrauterine growth restriction. In the postnatal stage, it presents recurrent episodes of dehydration and electrolyte im balance that can compromise the survival of the patient. OBJECTIVE: To report a clinical case of neo natal BS and a review of the literature. CLINICAL CASE: Premature newborn of 35 weeks of gestation with history of severe polyhydramnios diagnosed at 27 weeks of gestation, without apparent cause. From birth, the patient presented polyuria and hypokalemic metabolic alkalosis making a diagnosis of Neonatal Bartter Syndrome in the first week of life. Laboratory tests confirmed urinary electrolyte losses. The patient was treated with strict water balance and sodium and potassium supplementa tion, achieving weight and electrolyte imbalance stabilization. The patient remains in control in the nephrology unit, with potassium gluconate and sodium chloride supplementation. At the fourth month, ibuprofen was added as part of treatment. At the seventh month of life, renal ultrasound showed nephrocalcinosis. At one year of life, profound sensorineural hearing loss was observed re quiring a cochlear implant. CONCLUSION: The presence of severe polyhydramnios of early onset with no identified cause should lead to suspicion of neonatal BS which even when infrequent determines severe hydroelectrolytic alterations and should be treated early.

A case of Gitelman syndrome: our experience with a patient treated in clinical practice on a local island / Journal of Rural Medicine

Background: Gitelman syndrome (GS) is an autosomal recessive salt-losing renal tubulopathy resulting from mutations in the thiazide-sensitive Na-Cl cotransporter (NCC) gene. Notably, lack of awareness regarding GS and difficulty with prompt diagnosis are observed in clinical practice, particularly in rural settings.Case presentation: We report a case of a 48-year-old man with GS who presented to a local clinic on a remote island. Occasional laboratory investigations incidentally revealed a reduced serum potassium level of 2.6 mmol/L. A careful medical interview revealed episodes of intermittent paralysis of the lower extremities and muscular weakness for >30 years. Subsequent laboratory investigations revealed hypomagnesemia, hypocalciuria, and hypokalemic metabolic alkalosis. Based on the patient’s history, clinical presentation, and laboratory investigations, we suspected GS. Genetic testing revealed a rare homozygous in-frame 18 base insertion in the NCC gene that might have resulted from the founder effect, consequent to his topographically isolated circumstances.Conclusion: More case studies similar to our study need to be added to the literature to gain a deeper understanding of the functional consequences of this mutation and to establish optimal management strategies for this condition, particularly in rural clinical settings.

Síndrome de pseudo-Bartter como presentación inicial de fibrosis quística

Las manifestaciones clínicas de la fibrosis quística comprometen diferentes órganos; siendo los sistemas respiratorio y gastrointestinal los más frecuentemente afectados. Puede presentarse como un desequilibrio ácido-base y electrolítico conocido como síndrome de pseudo-Bartter que se define como un episodio de deshidratación con alcalosis metabólica hipoclorémica hiponatrémica e hipocalémica en ausencia de alteración tubular renal. Se presenta el caso clínico de un lactante menor masculino de cuatro meses con dos hospitalizaciones previas por deshidratación moderada y desequilibrio hidroelectrolítico con hiponatremia. La tercera hospitalización fue el 27 de enero de 2017 por 20 días. En esta ocasión fue admitido por gastroenteritis aguda, con deshidratación moderada, desequilibrio hidroelectrolítico, y observación por un trastorno metabólico. Por presentar deshidratación con alcalosis metabólica hipoclorémica hiponatrémica e hipocalémica sin tubulopatía renal se diagnosticó síndrome de pseudo Bartter y se sospechó fibrosis quística que se corroboró con medición de electrolitos en sudor y análisis molecular de las mutaciones . Conclusión: Debe considerarse el diagnóstico de fibrosis quística en un niño, sobre todo menor de dos años, con deshidratación, alcalosis metabólica hiponatrémica hipoclorémica aunque no haya presentado síntomas respiratorios o gastrointestinales típicos de la enfermedad. El diagnóstico temprano es fundamental para mejorar el pronóstico y la sobrevida a largo plazo

The clinical manifestations of cystic fibrosis may involve multiple organs. Although the respiratory and gastrointestinal are the most commonly affected systems, it can present as an acid- base and electrolyte imbalance called pseudo -Bartter syndrome which is defined as an episode of dehidration with metbolic alkalosis with hypochloremia, hyponatremia and hypokalemia in the absence of renal tubular pathology. We report a case of a 4-month-old male infant with 2 previous episodes of moderate dehydration and hydroelectrolyte imbalance with hyponatremia. He was admitted on January 27 th 2017 for 20-days hospital stay. On his 3th hospitalization, he was admitted with acute gastroenteritis, moderate dehydration, hydroelectrolyte imbalance, and probable metabolic disorder. Due to the presence of metabolic hypochloremic alkalosis with hyponatremia and hypokalemia without renal tubulopathy, Pseudo Bartter Syndrome was diagnosed and cystic fibrosis was suspected and corroborated later with the measurement of sweat electrolytes and molecular analysis of mutations. Conclusion: The diagnosis of cystic fibrosis must be suspected in a child, especially those under 2 years old, with hyponatremic hypochloremic,hypokalemic metabolic alkalosis dehydration should be considered even in the absence of respiratory or gastrointestinal symptoms, which are typically present in this disease. An early diagnosis is essential to improve the prognosis and long term survivor

Aproximación físico-química a las alteraciones ácido base en la orina de ovinos con alcalosis hipoclorémica / Physical-chemical approach to acid-base alterations in the urine of sheep with hypochloremic alkalosis / Aproximação físico-química às alterações ácido base na urina de ovinos com alcalose hipoclórica

Resumen La aproximación físico-química para determinar el pH urinario es relativamente nueva y no se ha usado en condiciones patológicas en animales. En el presente artículo, el objetivo principal fue demostrar la validez de esta teoría en la orina de ovinos con alcalosis metabólica hipoclorémica. Se realizó un estudio de tipo experimental para la inducción de la alcalosis metabólica hipoclorémica en ovinos. Durante el periodo de control y de inducción se determinaron en la orina: pH calculado, pH medido, excreción neta de ácido, amonio y diferencia de iones fuertes en la orina (SID) cada 24 h hasta el desarrollo de la aciduria paradójica o el deterioro físico de los sujetos. Se determinó la correlación de Pearson (p) entre el pH medido y calculado a partir del modelo del SID en la orina. Se observó una correlación alta entre el pH urinario medido y el calculado usando el SID calculado con base en la excreción neta de ácido (p = 0,874). La correlación entre SID calculado y pH en orina fue significativa (p = 0,839). Sin embargo, la correlación entre el SID y el pH medido de la orina fue moderada (p = 0,588). Se concluye que existe una alta correlación entre el pH calculado a partir del SID usando la excreción neta de ácido y el pH medido en la orina de ovinos con alcalosis metabólica hipoclorémica. Esto indica que el pH urinario depende fuertemente del SID y, por lo tanto, la reducción en el pH puede ser explicada por la disminución del SID.

Abstract The physical-chemical approach to determine urinary pH is relatively new and has not yet been used in pathological conditions in animals. The main objective of this paper was to demonstrate the validity of this theory in the urine of sheep with hypochloremic metabolic alkalosis. An experimental-type study was conducted to induce hypochloremic metabolic alkalosis in sheep. During the control and induction periods, calculated pH, measured pH, net acid excretion, ammonium and strong ion difference (SID) in urine were examined every 24 hours until development of paradoxical aciduria or physical deterioration of subjects. Pearson's correlation (p) was determined between measured and calculated pH based on SID in urine. A high correlation between measured and calculated urine pH was observed using SID calculated from net acid excretion (p = 0.874). The correlation between calculated SID and urine pH was significant (p = 0.839). However, the correlation between SID and measured urine pH was moderate (p = 0.588). It is concluded that there is a high correlation between pH calculated from SID using net acid excretion and pH measured in the urine of sheep with hypochloremic metabolic alkalosis. This indicates that urine pH depends strongly on SID and, therefore, a reduction in pH can be explained by a decrease in SID.

Resumo A aproximação físico-química para determinar o pH urinário é relativamente nova e não tem sido usado em condições patológicas em animais. Neste artigo, o objetivo principal foi demonstrar a validez desta teoria na urina de ovinos com alcalose metabólica hipoclórica. Realizou-se um estudo de tipo experimental para a indução da alcalose metabólica hipoclórica em ovinos. Durante o período de controle e de indução determinaram na urina: pH calculado, pH medido, excreção neta de ácido, amônio e diferença de íons fortes na urina (SID) cada 24 horas hasta o desenvolvimento da aciduria paradoxal ou a deterioração física dos sujeitos. Determinou-se a correlação de Pearson (p) entre o pH medido e calculado a partir do modelo do SID na urina. Observou-se uma correlação alta entre o pH urinário medido e o calculado usando o SID calculado a partir da ex creção líquida de ácido (p = 0,874). A correlação entre SID calculado e pH em urina foi significativa (p = 0,839). Contudo, a correlação entre o SID e o pH medido da urina foi moderada (p = 0.588). Conclui-se que existe uma alta correlação entre o pH calculado a partir do SID usando a excreção líquida de ácido e o pH medido na urina de ovinos com alcalose metabólica hipoclórica. Isto indica que o pH urinário depende fortemente do SID e, portanto, a redução no pH pode ser explicada pela diminuição do SID.

Síndrome de pseudo-Bartter en paciente pediátrico con fibrosis quí­stica estable / Pseudo-Bartter syndrome in stable cystic fibrosis pediatric patient

The pseudo-Bartter´s syndrome (PBS) is a disorder characterized by metabolic alkalosis, hyponatremia, hypochloremia, hypokalemia in the absence of renal tubular disease. The PBS can be one of the complications of cystic fibrosis or may be the initial presentation of the disease in children and adults. The objective is to present a clinical case emphasysing the importance of diagnostic suspicion in cystic fibrosis.

El síndrome de Pseudo-Bartter (SPB) se caracteriza por alcalosis metabólica, hiponatremia, hipocloremia, hipocalemia en ausencia de enfermedad tubular renal. El SPB puede ser una complicación de la Fibrosis Quística (FQ) o la forma de presentación inicial de esta enfermedad, en niños y en adultos. El objetivo es presentar un caso clínico, enfatizando en la importancia de tener un alto índice de sospecha de esta condición.

Alteration of Akt, p-Akt, ERK, and p-ERK Proteins Expression in the Kidney of Hypokalemic Rat / 체질인류학회지

Hypokalemia causes metabolic alkalosis and morphological changes of the kidney. K⁺ balance is regulated not only by ion channels or pump gene, but also by various genes including NF-E2-related factor 2 (Nrf2). Previous study suggested the possibility that Akt and ERK kinase may be involved in Nrf2 transcriptional gene activation. In present study, we investigate the alterations of Akt, p-Akt, ERK, p-ERK protein in both normal kidney and K⁺-deficient diet kidney using Western blot analysis, and immunohistochemisrty. Our western blot data showed that the expression of Akt and p-Akt was increased gradually in K⁺-depleted diet (from 1W-3W) compared to normal group. The expression of ERK and p-ERK was markedly increased in K⁺-depleted diet 2W in comparison with normal group. Based on our immunostaining results, Akt protein immunoreactivity was prominently increased in outer medullary collecting duct, especially in K⁺-depleted diet 2 weeks. The localization of p-Akt proteins in K⁺-depleted groups was not different from normal group, but the immunoreactivity was significantly increased in distal convoluted tubule, macula densa and outer medullary thick ascending limb in K⁺-depleted diet 1 and 2 weeks groups. ERK protein immunoreactivity was prominently increased in outer medullary collecting duct, especially in K⁺-depleted diet 2 and 3 weeks. The localization of p-ERK proteins in K⁺-depleted groups was not different from normal group, but the immunoreactivity was prominently increased in the nucleus of outer medullary collecting duct especially in K⁺-depleted diet 2 weeks. Taken together, we suggest that the expression of p-Akt was gradually increased in K⁺-depleted groups of kidney, but the expression of p-ERK was markedly increased in K⁺-depleted diet 2 week group. Hence, the promotion of AKT and ERK phosphorylation in hypokalemic condition may be involved in the regulation of ion channels, ion transporters and subsequent intracellular signal transduction.

Síndrome de pseudo-Bartter como presentación de fibrosis quística con mutación DF508 / Pseudo-Bartter syndrome as manifestation of cystic fibrosis with DF508 mutation

Resumen: Introducción: El síndrome de pseudo-Bartter (SPB) se define como una alcalosis metabólica hipoclorémica con hipocaliemia en ausencia de tubulopatía. Los pacientes con fibrosis quística (FQ), al presentar alteraciones hidrolectrolíticas, pueden llegar a presentarlo. Caso clínico: Lactante femenino con antecedente de 2 eventos de deshidratación. Se presenta a los 5 meses de vida con vómito, rechazo al alimento, tos crónica, poliuria, desnutrición, alcalosis metabólica, hipocaliemia, hiponatremia, hipocloremia y falla renal aguda. Se realizó estudio de tos crónica, con lo que se descartó tuberculosis pulmonar, enfermedad por reflujo gastroesofágico y alteración en la mecánica de la deglución. Ante la alcalosis metabólica sin tubulopatía se diagnosticó SPB; por la historia de desnutrición y tos crónica se sospechó de FQ, la cual se corroboró con medición de electrolitos en sudor y mediante análisis molecular de la mutación delta F508. Este es uno de los pocos casos reportados con SPB y esta mutación. Conclusiones: En pacientes con cuadros repetitivos de deshidratación hiponatrémica con alcalosis metabólica hipoclorémica o SPB debe considerarse como diagnóstico diferencial FQ. La FQ pude presentarse como SPB, principalmente en pacientes menores de 2 años.

Abstract: Background: Pseudo Bartter syndrome (PBS) is defined as hypokalaemic hypochloraemic metabolic alkalosis in the absence of renal tubular pathology. Children with cystic fibrosis (CF) are at risk of developing electrolyte abnormalities and even PBS may occur. Case report: 5 months old female infant with a history of two events of dehydration with vomit, refusal to eat, chronic cough, polyuria, malnutrition, metabolic alkalosis, hypokalemia, hyponatremia, hypochloremia and acute renal failure. Chronic cough study was performed, discarding pulmonary tuberculosis, gastroesophageal reflux disease and impaired swallowing. PBS was diagnosed due to hypokalaemic hypochloraemic metabolic alkalosis in the absence of renal tubular pathology. CF was corroborated by electrolytes in sweat and through molecular analysis of the delta F508 mutation. This is one of the few reported cases linking PBS and this mutation. Conclusions: In patients with hyponatremic dehydration episodes with hypokalaemic hypochloraemic metabolic alkalosis, PBS should be considered as differential diagnosis. CF could be presented as PBS, mainly in patients younger than 2 years.

Alcalosis metabólica hipoclorémica o alcalosis de iones fuertes: una revisión / Hypochloremic metabolic alkalosis or strong ion alkalosis: A review / Alcalose metabólica hipoclorêmica ou alcalose de íons fortes: uma revisão

Durante los últimos 100 años se han realizado diferentes investigaciones en busca de dilucidar los mecanismos del equilibrio ácido base en humanos y animales. A partir de estas investigaciones se han desarrollado diferentes abordajes, de los cuales el modelo propuesto por Henderson-Hasselbalch (H-H) es el más difundido en la comunidad médica y médico-veterinaria. En los últimos años ha cobrado gran importancia otro método propuesto por Stewart y es el correspondiente a la diferencia de iones fuertes, el cual pretende dar una mirada más amplia para entender los diferentes procesos que intervienen en dicho equilibrio. Tanto en medicina humana como en medicina veterinaria en las unidades de cuidados intensivos uno de los disturbios ácido base más común es la alcalosis metabólica hipoclorémica que en humanos resulta principalmente del vómito y en animales rumiantes de disturbios abomasales. Este estado puede llegar a permanecer por periodos largos, en los cuales se desarrolla el fenómeno de una orina ácida conocida como aciduria paradójica. El presente artículo pretende revisar los diferentes mecanismos fisiopatológicos que ocurren durante este trastorno ácido base y los diferentes abordajes para explicar su ocurrencia.

Over the past 100 years numerous studies sought to elucidate the mechanisms of acid-base balance in humans and animals. Based on these investigations, different approaches have been developed; among them, the model proposed by Henderson-Hasselbalch (H-H) is the most widespread in the medical and medical-veterinary community. In recent years, another method proposed by Stewart has gained importance, and it corresponds to the strong ion difference, which aims to take a broader look in order to understand the different processes involved in acid-base balance. Both in human and veterinary medicine, one of the most common acid-base disorder in ICUs is hypochloremic metabolic alkalosis, which results from vomiting in humans and from abomasal disorders in ruminants. This disorder can remain for long periods during which acidic urine occurs and it is known as paradoxical aciduria develops. This article reviews the different pathophysiological mechanisms occurring during this acid-base disorder and the different approaches to explain its occurrence.

Durante os últimos 100 anos têm se realizado diferentes pesquisas em busca de dilucidar os mecanismos do equilíbrio ácido base em humanos e animais. A partir destas pesquisas se desenvolveram diferentes abordagens, das quais o modelo proposto por Henderson-Hasselbalch (H-H) é o mais difundido na comunidade médica e médico-veterinária. Nos últimos anos adquiriu grande importância outro método proposto por Stewart e é o correspondente à diferença de íons fortes, o qual pretende dar uma visão mais ampla para entender os diferentes processos que intervêm neste equilíbrio. Tanto em medicina humana como em medicina veterinária nas unidades de cuidados intensivos um dos distúrbios ácido base mais comum é a alcalose metabólica hipoclorêmica que em humanos é causado principalmente do vômito e em animais ruminantes de distúrbios abomasais. Este estado pode chegar a permanecer por períodos longos, nos quais se desenvolve o fenômeno de uma urina ácida conhecida como acidúria paradoxal. O presente artigo pretende revisar os diferentes mecanismos fisiopatológicos que ocorrem durante este transtorno ácido base e as diferentes abordagens para explicar sua ocorrência.

Clinical features and SLC26A3 genetic mutation analysis of a kindred with congenital chloride diarrhea / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics and mutation of SLC26A3 gene of a patient with congenital chloride diarrhea in order to deepen the understanding of the disease.Methods The clinical data of the patient who was admitted in Affiliated Hospital of Capital Pediatric Institute in June 2014 were collected.Venous blood of the proband and his parents (2 mL for each) had been extracted for genomic DNA isolation.The 21 exons of SLC26A3 gene were amplified with polymerase chain reaction and screened for mutations by sequencing.Results The main clinical features of the patient included polyhydramnios,preterm,normal birth weight,watery diarrhea,low weight and severe electrolyte disturbances with hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis.Renin angiotensin and aldosterone were high.His urine chloride concentration was low and fecal chloride concentration was high (＞ 90mmol/L).After oral salt substitution therapy with KCl and NaCl [3 mmol/(kg · d),4 mmol/(kg · d)],the electrolyte was better,alkalosis was alleviated,and growth and development were improved.The gene analysis revealed that the patient carried nt1631T ＞ A homozygous mutation on exon 15 which lead to Ile544Asn mutation in the predicted SLC26A3 transmembrane protein sequence,which was considered to be responsible for the functional abnormality of the Cl-/HCO3-protein.His parents were carriers of SLC26A3 gene and their clinical phenotype was normal.Conclusions Congenital chloride diarrhea is a rare autosomal recessive disorder and easily misdiagnosed.The patient of early postnatal diarrhea with persistent hypochloremia,hypokalemia,hyponatremia and metabolic alkalosis should be thought about this disease.Genetic analysis can help make the diagnosis.The prognosis is good if a patient has an early diagnosis and appropriate management.

Neonatal Bartter Syndrome.

Bartter syndrome is characterized by hypokalemia, metabolic alkalosis, increased urinary excretion of sodium, potassium and chloride and normal blood pressure. A rare subset of the disorder occurs in the newborn period, which prompts us to report two such cases. Both showed satisfactory response to treatment with indomethacin.

Reporte de segundo caso en Cuba de clorhidrorrea congénita / Report of a second congenital chloride diarrhea case in Cuba

La clorhidrorrea congénita es un raro desorden autosómico recesivo, causado por un defecto en el intercambio de cloruro/bicarbonato en el íleon y colon. En este trabajo se reporta el caso de un niño de 1 año de edad con características patognomónicas de esta condición, consistentes en antecedentes prenatales de polihidramnios, diarreas acuosas desde el nacimiento, poca ganancia de peso, alcalosis metabólica y deshidratación. El diagnóstico fue confirmado por el elevado contenido de cloruro en heces, y es el segundo caso reportado en la literatura cubana.

Congenital chloride diarrhea is a rare autosomal recessive disorder caused by a defective exchange of chloride and bicarbonate in the ileum and the colon. This article reported the case of one-year old child with pathognomonic characteristics of this disease including prenatal history of polyhydramnios, watery diarrheas since birth, low weight gain, metabolic alkalosis and dehydration. The diagnosis was confirmed on the basis of the high contents of chloride in stools. He is the second case of this disease reported in the Cuban literature.

Clinical analysis of 9 children with Pseudo-Bartter syndrome / 中华实用儿科临床杂志

Objective To analyze the clinical characteristics of children's Pseudo-Bartter syndrome(PBS) in order to enhance physician's understanding of the disease.Methods Nine children with PBS who were admitted into Beijing Children's Hospital from Nov.2008 to Sep.2013 were selected as research subjects.A retrospective study was carried out with the clinical data and the outcome of treatment.Results 1.Clinical characteristics:there were 9 cases in this group including 5 male and 4 female.The patients' age ranged from 4 months to 8 years 8 months.The most common cause of children's PBS was gastrointestinal symptoms(such as diarrhea and vomiting) induced by respiratory tract infection (7/9 cases).Six patients had no striking clinical manifestations,and hypokalemia was found in the treatment of primary disease.2.Laboratory tests:All of the children in this group had hypokalemia and metabolic alkalosis in varying degrees.The activation of renin,angiotensin and aldosterone system increased.3.Therapy:all children were treated by giving potassium supplemental treatment or indomethacin therapy [1 mg/(kg · d),3 times orally].After treatment,all cases achieved clinical improvement and normal blood electrolytes.All patients' blood electrolytes remained normal for 5 to 7 days after stopping treatment.Conclusions 1.In China,the most common cause of children's PBS is gastrointestinal symptoms(such as diarrhea and vomiting) induced by respiratory tract infection.2.Except for clinical manifestations related to causes,patients have no significant clinical manifestations.Hypokalemia can be found in the treatment of primary disease.3.The biochemical results show low blood potassium chloride with metabolic alkalosis.In PBS renin,angiotensin and aldosterone concentration in blood are all elevated.4.Treatment of children's PBS mainly includes etiological treatment and electrolyte supplement therapy.The treatment effectiveness is good after etiological treatment and potassium supplement treatment.In the condition of controlling etiology and potassium supplementation,electrolytes mas return to normal in 2-4 days.

Analysis of 15 case with Bartter syndrome and literature review / 临床儿科杂志

Objective To investigate the clinical manifestations, diagnosis and treatment of Bartter syndrome in children. Methods Clinical data of 15 patients with Bartter syndrome in Children`s Hospital Afifliated to Chongqing Medical University was analyzed, and pertinent literatures were reviewed. Results Bartter syndrome is an autosomal recessive inherited renal disorder characterized by hypokalemia, hypochloremia, metabolic alkalosis, vomiting, growth retardation, the activation of the renin-aldosterone axis, normal blood pressure. Genetic analysis is the most reliable way for diagnosis. Comprehensive therapy with antisterone, indomethacin, catopril and potassium have remarkable effect. Conclusions Bartter syndrome should be considered when children have unreasonable continuous hypokalemia, hypochloremia, metabolic alkalosis and growth retardation. It can be clinically diagnosed by clinical manifestation and hydrochlorothiazide test, and genetic analysis is the most reliable way. It can be ameliorated by potassium and magnesium supplementation, antialdosterone medications, prostaglandin inhibitors and antisterone. Considering the following electrolyte disturbances, infections, growth retardation, kidney failure and even death,Bartter syndrome need lifelong treatment, early diagnosis and treatment is of the most importance.

Acute Renal Failure with Metabolic Alkalosis Due to Gastric Scirrhous Carcinoma / General Medicine

A 51-year-old man was emergently admitted for acute renal failure. Blood tests showed a high serum creatinine level and metabolic alkalosis. He had a history of recurrent vomiting starting one month prior to admission to our hospital, and had circumferential thickening of the cardia on upper gastrointestinal endoscopy and CT. He underwent total gastrectomy and was given a diagnosis of scirrhous gastric carcinoma at the pylorus. After total gastrectomy, acute renal failure and metabolic alkalosis showed amelioration. We report this very rare case with metabolic alkalosis and acute renal failure resulting from pyloric stenosis caused by scirrhous gastric carcinoma.

A Case of Adult onset Bartter Syndrome with Nephrocalcinosis / 고신대학교의과대학학술지

Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis, hyperreninemia, hyperaldosteronism, normal blood pressure, and other clinical symptoms. As a clinical and genetical heterogeneous disorder, this syndrome can be classified into two clinical variants, antenatal Bartter syndrome and classic Bartter syndrome according to the onset age. Nephrocalcinosis is common in antenatal Bartter syndrome, but is rare in classic Bartter syndrome. It can also be classified into five genetic subtypes by the underlying mutant gene, all of which are expressed in the tubular epithelial cells of the thick ascending limb of the loop of Henle. Patients with Bartter syndrome type 1, 2 and 4 present at a younger age than classic Bartter syndrome type 3. We have experienced a case of Bartter syndrome with nephrocalcinosis in a 42-year-old woman diagnosed by biochemical and radiologic studies. We had successful response with potassium chloride and spironolactone.

Alcalosis metabólica hipoclorémica como presentación de la fibrosis quística. Informe de dos casos / Hypochloremic metabolic alkalosis as presentation of cystic fibrosis. Report of two cases

Introducción: se describen los casos de dos pacientes con fibrosis quística (FQ) con alcalosis metabólica hipoclorémica: uno con diagnóstico de novo y otro con una recaída. Casos clínicos: pacientes de 6 y 9 meses que consultan por tos, fiebre y disnea. El primero con síndrome bronco-obstructivo recurrente (SBOR), el segundo con FQ conocida. Examen físico: dificultad respiratoria, deshidratación y desnutrición. Gasometría: alcalosis metabólica, hipokalemia e hipocloremia graves. Se tratan con cloruro de sodio y potasio. Hay mejoría del desequilibrio electrolítico y del estado ácido-base. No se documentan pérdidas renales o gastrointestinales de cloro y se diagnostica síndrome pseudo-Bartter. Los electrólitos en sudor de ambos pacientes son elevados. Se diagnostica alcalosis metabólica por FQ. Conclusión: la alcalosis metabólica puede ser la manifestación inicial en niños con SBOR y talla baja con sospecha de FQ; igualmente puede hacer parte de una exacerbación aguda en pacientes conocidos con FQ. Con su reconocimiento y tratamiento oportunos disminuye la morbilidad.

Introduction: We describe the cases of two patients with hypochloremic metabolic alkalosis either as the initial presentation of cystic fibrosis (case 1) or as part of a second cystic fibrosis exacerbation (case 2). Clinical cases: Two patients, 6 and 9 months old, were brought to the hospital because of cough, fever, and dyspnea. The first had a syndrome of recurrent bronchial obstruction, without the diagnosis of CF on admission. Both presented with difficulty for breathing, dehydration, and malnutrition. Arterial blood gases showed metabolic acidosis, hypokalemia, and severe hypochloremia. Treatment with sodium chloride and potassium improved their electrolyte balance and acid-base status. They did not have renal or gastrointestinal losses of chloride. CF and pseudo-Barter's syndrome were diagnosed. Conclusion: Metabolic alkalosis can be the initial manifestation of CF in infants with recurrent bronchiolitis and short stature suspicious of having CF. It can also be the expression of an acute exacerbation in patients with known CF. Opportune diagnosis and treatment are important to decrease morbidity.

Síndrome de Bartter: avaliação do desenvolvimento estatural e perfil metabólico / Bartter's syndrome: evaluation of statural growth and metabolic profile

OBJETIVO: A síndrome de Bartter é uma doença rara, porém uma das mais frequentes condições congênitas perdedoras de cloro. Este trabalho teve como objetivo relatar a evolução de dez pacientes com a síndrome. MÉTODOS: Estudo observacional, descritivo, realizado pela análise de prontuários médicos relatando o perfil metabólico, a depuração de creatinina, o estado nutricional e pôndero-estatural de dez pacientes atendidos no Serviço de Nefrologia da Universidade Federal de São Paulo com características clínico-laboratoriais da síndrome de Bartter, seguidos por um período médio de 43 meses (3-76 meses). Durante o acompanhamento, o tratamento consistiu na administração de suplemento de potássio (100 por cento), magnésio (60 por cento), anti-inflamatórios não hormonais (90 por cento), inibidores de enzima conversora de angiotensina (40 por cento) e espironolactona (50 por cento). A análise estatística constou da comparação dos dados da primeira e da última consulta, utilizando-se o teste de Wilcoxon. RESULTADOSs: Observou-se melhora dos valores absolutos dos itens avaliados e do desenvolvimento pôndero-estatural com a terapêutica empregada, porém apenas a calemia [mediana inicial 3,05mEqL e final 3,25mEqL (p=0,01)] e o escore Z de peso idade [mediana inicial -2,47 e final -1,35 (p=0,02)] apresentaram melhora significante. Dos dez pacientes estudados, dois apresentavam diminuição da depuração de creatinina com doença renal crônica estágio 2 no final do acompanhamento (ambos tinham iniciado o acompanhamento com depuração renal comprometida). CONCLUSÕES: Há necessidade da instituição terapêutica precoce para melhorar os níveis séricos dos eletrólitos e o estado nutricional dos pacientes acometidos, sem comprometer a depuração de creatinina.

OBJECTIVE: Bartter's syndrome is one of the most important inherited diseases that cause chloride leak. The objective of this study was to report the follow-up of ten patients with the syndrome. METHODS: This observational study was based on the review of medical charts reporting the metabolic features, creatinine clearance, nutritional and anthropometric assessment of ten patients with Bartter's syndrome followed at the Nephrology Service of the Universidade Federal de São Paulo, in their first and last medical appointments, after a mean follow-up period of 43 months (3-76 months). During the follow-up, the management included the administration of potassium (100 percent) and magnesium (60 percent) supplements, non-steroidal anti-inflammatory agents (90 percent), angiotensin-converting enzyme inhibitors (40 percent) and spironolactone (50 percent). Statistical analysis was performed comparing the results of first versus last clinical appointment by non-parametric Wilcoxon test. RESULTS: Improvement of serum electrolytes and statural growth after the treatment was observed but only serum potassium [3.05mEq/L versus 3.25 mEq/L (p=0.01)] and weigh-for-age Z-score [initial median -2.47 versus -1.35 (p=0.02)] improved significantly. Out of the ten patients studied, two presented decrease of creatinine clearance with chronic kidney disease at stage 2 at the end of the follow-up. These patients had already started the follow-up with decreased creatinine clearance. CONCLUSIONS: There is a need of early treatment of patients with Bartter's syndrome in order to improve their electrolytes and nutritional condition without compromising the creatinine clearance.

OBJETIVO: El síndrome de Bartter (SB) es una enfermedad rara, pero una de las más frecuentes condiciones congénitas perdedoras de cloro. Este trabajo tiene por objetivo relatar la evolución de diez pacientes con SB. MÉTODOS: Estudio observacional, descriptivo, obtenido mediante análisis de prontuarios médicos. Relata el perfil metabólico, la depuración de creatinina, el estado nutricio-nal y ponderoestatural de los diez pacientes atendidos en el ambulatorio de Tubulopatías de Universidade Federal de São Paulo con características clínico-laboratoriales de SB, seguidos por un periodo mediano de 43 meses (3-76 meses). Durante el seguimiento se practicó protocolo de tratamiento que consistió en la administración de suplemento de potasio (100 por ciento), magnesio (60 por ciento), anti-inflamatorios no hormonales (90 por ciento), inhibidores de enzima convertidora de angiotensina (40 por ciento) y espironolactona (50 por ciento). Se consideraron criterios de exclusión la presencia de alteraciones séricas y urinarias no compatibles con SB. El análisis estadístico constó de la comparación de datos de la primera y la última consulta, utilizándose la prueba de Wilcoxon. RESULTADOS: Se observó mejora numérica de los valores absolutos de los ítems evaluados y del desarrollo ponderoestatural con la terapéutica utilizada, pero solamente la calemia [mediana inicial 3,05mEq/L y final 3,25mEq/L (p=0,01)] y el escore Z de peso/edad [mediana inicial -2,47 y final 1,35 (p=0,02)] presentaron mejora significante. De los 10 pacien-tes estudiados, dos presentaban reducción de la depuración de creatinina con enfermedad renal crónica etapa 2 y en el final del seguimiento (ambos habían iniciado el seguimiento con depuración renal comprometida). CONCLUSIONES: Los datos enfatizan la necesidad de la ins-titución terapéutica precoz para mejorar los niveles séricos de los electrólitos y el estado nutricional, sin comprometer la depuración de creatinina.