Síndrome de Gitelman: cuándo sospecharlo / Gitelman syndrome, when to suspect it

Las tubulopatías son un grupo heterogéneo de entidades definidas por anomalías de la función tubular renal. El síndrome de Gitelman, objeto de nuestro artículo, está causado por mutaciones inactivantes del gen SLC12A3, que codifica el cotransportador Na-Cl sensible a tiazidas del túbulo contorneado distal, produciendo así una pérdida urinaria de Cl-Na. Se exponen tres casos clínicos de síndrome de Gitelman, cada uno con una clínica de presentación. La finalidad de este artículo es sensibilizar al lector en esta tubulopatía y ayudar en su diagnóstico precoz (AU)

Tubulopathies are a heterogeneous group of entities defined by abnormalities of renal tubular function. Gitelman syndrome, the subject of our article, is caused by inactivating mutations of the SLC12A3 gene, which encodes the thiazide-sensitive Na-Cl cotransporter of the distal convoluted tubule, thus producing a urinary loss of Cl-Na.Three clinical cases of Gitelman syndrome are presented, each with a clinical presentation. The purpose of this article is to familiarize the reader with this tubulopathy and to help in its early diagnosis. (AU)

Hipopotasemia e hipertensión arterial: es importante no infravalorarlas / Hypokalemia and arterial hypertension: it is important not to underestimate them

El síndrome de exceso aparente de mineralocorticoides es un trastorno autosómico recesivo caracterizado por hipertensión e hipopotasemia. Hay menos de 100 casos descritos en el mundo, debidos a mutaciones en el gen HSD11B2 (16q22). Clínicamente se caracteriza por poliuria y polidipsia de inicio habitualmente en primera infancia, fallo de medro e hipertensión arterial grave, con niveles bajos de renina y aldosterona, hipopotasemia, alcalosis metabólica y nefrocalcinosis. El pronóstico es malo, pudiendo fallecer los pacientes por secuelas de hipertensión arterial grave (accidentes cerebrovasculares, insuficiencia cardiaca y renal). Sin embargo, el pronóstico con tratamiento adecuado parece ser bueno (AU)

Apparent mineralcorticoid excess syndrome is an autosomal recessive disorder characterized by hypertension and hypokalemia. There are less than 100 cases described in the world, due to mutations in the HSD11B2 gene (16q22). Clinically it is characterized by polyuria and polydipsia with onset usually in early childhood, failure to thrive and severe arterial hypertension, with low renin and aldosterone levels, hypokalemia, metabolic alkalosis and nephrocalcinosis. The prognosis is poor, with the possibility of death due to sequelae of severe arterial hypertension (stroke, heart failure and renal failure). However, the prognosis with adequate treatment appears to be good. (AU)

Enuresis infantil, formar y educar / Children enuresis: training and educating

Introducción: La enuresis se define como la eliminación nocturna, involuntaria y funcionalmente normal de orina que ocurre a una edad en la que cabe esperarse en el niño un control voluntario de la micción. Es un motivo frecuente de consulta en pediatría, posiblemente, infradiagnosticado y, por lo tanto, infratratado que puede llegar a ser un problema de salud importante en niños y adolescentes. Objetivo: Examinar y analizar datos epidemiológicos sobre enuresis en una muestra de población infantil e importancia de su diagnóstico tempano. Métodos: estudio transversal, descriptivo a través de encuestas rellenadas en un período de 6 meses, por pacientes de edad pediátrica de 5-15 años de edad, en consultas externas del Hospital Lluís Alcanyís de Xàtiva (Valencia) Resultados: 321 pacientes incluidos, 50,5 por ciento mujeres. Rango de edad de los incluidos entre 5-15 años, con media de 11 años. 2,8 por ciento incontinencia diurna, 8,4 por ciento enuresis nocturna, de los que el 77,8 por ciento fueron enuresis monosintomática primaria, 77,8 por ciento de los participantes habían comunicado a su pediatra su situación de salud y 22,2 por ciento, no lo notificaron. Conclusiones: Es importante diagnosticar a tiempo la enuresis, educar a las familias en los conocimientos de este problema y ayudar a dar soluciones y un tratamiento adecuado e individualizado. Un alto porcentaje no despreciable, no informa a su pediatra, actitud que puede retrasar su tratamiento. El diagnóstico precoz y atención de este problema de salud, pueden ayudar a los niños a mejorar su calidad de vida(AU)

Introduction: Enuresis is defined as the nighttime, involuntary and functionally normal removal of urine that occurs at an age at which voluntary urination control can be expected in the child. It is a common cause of consultation in pediatrics, possibly rarely diagnosed and treated, which can become a major health problem in children and adolescents. Objective: Examine epidemiological data on enuresis in a sample of children population and the importance of its early diagnosis. Methods: Cross-sectional study, descriptive through surveys filled in over a period of 6 months, by pediatric patients aged 5-15 years, in external consultations of Lluís Alcanyís de Xativa Hospital (Valencia) Results: 321 patients included in the study, 50.5 percent female ones. The age range of those included was of 5 to 15 years, with an average of 11 years. There was 2.8 percent of daytime incontinence, 8.4 percent of nocturnal enuresis, of which 77.8 percent were primary monosymptomatic enuresis; 77.8 percent of participants had reported their health status to their pediatrician and 22.2 percent did not report it. Conclusions: It is important to diagnose enuresis early, educate families in their knowledge of this problem, and help providing adequate and individualized solutions and treatment. A high and not negligible percentage of families does not inform their pediatrician, and this attitude can delay the treatment. Early diagnosis and care of this health problem can help children improve their quality of life(AU)

Salud bucodental en los niños: ¿debemos mejorar su educación? / Oral health in children. Should we improve their education?

La caries dental es una enfermedad infecciosa caracterizada por la destrucción de los tejidos duros dentarios. Es la enfermedad infantil crónica más común, pero es prevenible y curable. La salud bucodental se define como la ausencia de dolor orofacial, llagas bucales, infecciones, caries y enfermedades periodontales. Disponer de una buena salud bucodental es fundamental para gozar de una buena salud y buena calidad de vida. Se realiza un estudio descriptivo de la higiene y salud bucodental de una población pediátrica

Dental caries is an infectious disease characterized by the destruction of hard dental tissues. It is the most common chronic disease in children, yet it is preventable and curable. Oral health is defined as the absence of orofacial pain, mouth sores, infections, caries and periodontal disease. A good oral health is essential to enjoy a good overall health and quality of life. We performed a descriptive study of the oral health and hygiene in a paediatric population

Hematuria macroscópica: ¿qué puede esconder? / Macroscopic hematuria, what can it hide?

El síndrome del cascanueces se caracteriza por la compresión extrínseca de la vena renal izquierda, lo que impide su drenaje sanguíneo normal en la vena cava inferior. En la mayoría de los casos, la compresión de la vena renal izquierda se produce entre la aorta y la arteria mesentérica superior, denominándose síndrome del cascanueces anterior. Con menor frecuencia, la vena renal izquierda se encuentra en posición retroaórtica por lo que ocurre la compresión entre la aorta y el cuerpo vertebral, denominándose entonces síndrome del cascanueces posterior. La clínica característica es de hematuria microscópica o más frecuentemente macroscópica, sobre todo después de estar en bipedestación o tras realizar ejercicio físico. La proteinuria ortostática o la combinación de hematuria y proteinuria, dolor abdominal y varicocele izquierdo pueden ser otras manifestaciones del síndrome

The nutcracker syndrome is caused characterized by extrinsic compression of the left renal vein, which prevents its normal blood drainage in the inferior vein cava. In the majority of cases, compression of the left renal vein occurs between the aorta and the superior mesenteric artery, being called the anterior nutcracker syndrome. Less frequently, the left renal vein is in a retroaortic position, resulting in compression between the aorta and the vertebral body, which is called posterior nutcracker syndrome. The characteristic feature is microscopic hematuria or more often macroscopic, especially after being in a standing position or after physical exercise. Orthostatic proteinuria or the combination of hematuria and proteinuria, abdominal pain and left varicocele may be other manifestations of the syndrome

Respiratory morbidity, atopy and asthma at school age in preterm infants aged 32-35 weeks.

Little is known about respiratory morbidity and asthma risk in preterm infants (PTIs) with a gestational age (GA) over 32 weeks. This was a prospective study carried out from birth to 7-8 years, comparing two groups: (a) PTIs (GAs 32 weeks + 1 day to 35 weeks + 0 days, without comorbidities) and (b) full-term infants (FTIs; GA ≥ 37 weeks). Risk and protective factors for bronchiolitis and asthma were identified. A total of 232 children (116/group) were included. Sixty-six (56.9%) PTIs and 43 (37.1%) FTIs presented bronchiolitis (p = 0.002). Recurrent wheezing was 52 (44.8%) on PTIs versus 36 (31.0%) on FTIs (p = 0.03). Asthma at school aged was 27 (23.3%) on PTIs and 8 (6.9%) on FTIs (p = 0.020). Asthma risk factors were only detected in group A.Conclusion: PTIs had a higher prevalence of bronchiolitis, recurrent wheezing and asthma; risk factors for asthma are the following: older siblings, allergic father, atopic dermatitis and antibiotic treatment in the first 3 years of life and prematurity itself, which also acted as protective factor for atopic dermatitis. What is known: • In recent decades, there has been a significant increase in the birth of premature babies and consequently, also in the pathologies secondary to the prematurity: a greater number of complications and disorders related to the development and maturation of many organs and systems, especially the respiratory system. Several studies, especially in full-term infants and very preterm infants, have tried to elucidate the risk factors that may influence the development of persistent or chronic respiratory problems such asasthma, but little is known about the aetiology of these disorders in the late or moderate preterm infants. Inthis group of children, the role played by certain factors (early use of antibiotics, chorioamnionitis, smokeexposure, paternal asthma, etc.) on late respiratory morbidity, or asthma, is inconclusive. • Moderate-to-late preterm infants are more predisposed to developing recurrent wheezing/asthma and should adopt control measures. What is new: • Our work provides data related to little-understood aspects of respiratory diseases in this group of late or moderate preterm infants (gestational age between 32 weeks plus 1 day and 35 weeks plus 0 days), by monitoring their evolution from birth to 7-8 years of age, compared with another group of full-term newborns. We aimed to establish the prevalence of bronchiolitis and recurrent wheezing in these children during their first years of life. • The prevalence of school-aged asthma and the risk factors for contracting it were also investigated.

Anemia hemolítica, causa no habitual pero tampoco rara / Haemolytic anemia, unusual cause but not rare

La anemia es la disminución de la masa eritrocitaria, del hematocrito o de la concentración de hemoglobina en sangre por debajo de dos desviaciones estándar para la edad, sexo y raza. La etiología de la anemia varía según la edad. Las causas de anemia pueden ser clasificadas en tres grandes grupos: por pérdidas sanguíneas, por destrucción de hematíes (anemia hemolítica) y por falta de producción. La causa más frecuente de hemólisis por problema estructural de membrana es la esferocitosis y la causa más frecuente por déficit enzimático es el déficit de glucosa-6-fosfato-deshidrogenasa, seguido del de piruvato quinasa

Anemia is the decrease in erythrocyte mass, hematocrit, or blood hemoglobin concentration below two standard deviations for age, sex and race. The etiology of anemia varies according to age and can be classified into three groups: blood loss, destruction of red blood cells (hemolytic anemia) and failure to produce. The most frequent cause of hemolysis due to a structural membrane problem is spherocytosis and the most frequent cause of enzyme deficiency is glucose-6 phosphate dehydrogenase deficiency followed by the pyruvate kinase deficiency

¿Qué puede ocultar una mancha café con leche? / What can hide a café-au-lait skin pigmentation?

El síndrome McCune-Albright es una enfermedad rara de carácter esporádico, descrita por McCune y Albright en 1937. Está causada por la mutación del gen GNAS1, que estimula el crecimiento y la función de las glándulas endocrinas, los melanocitos y los osteoclastos. Tríada característica de displasia fibrosa poliostótica, alteraciones endocrinas múltiples y mancha café con leche

McCune-Albright syndrome is a rare sporadic disease, described by McCune and Albright in 1937. It is caused by the mutation of the GNAS1 gene, which stimulates the growth and function of the endocrine glands, melanocytes and osteoclasts. Triad characteristic: polyostotic fibrous dysplasia, multiple endocrine alterations and café-au-lait skin pigmentation

Tuberculosis por Mycobacterium africanum multirresistente: Caso clinico pediatrico / Tuberculosis by multiresistant Mycobacterium africanum: Pediatric clinical case

La tuberculosis, considerada desde 2003 por la Organización Mundial de la Salud una emergencia global de salud, provoca una mortalidad anual de alrededor de 2 millones de personas, fundamentalmente, en países en vías de desarrollo. En la población pediátrica española, la incidencia es de 5 casos/100 000 niños de entre 5 y 14 años y 13 casos/100 000 niños de entre 0 y 4 años. La infección se transmite por vía respiratoria por enfermos bacilíferos. Los niños eliminan escasos bacilos en secreciones respiratorias y no suelen transmitir la infección. En España, el porcentaje de resistencias a isoniazida en la población general es de 5% y es superior en la población inmigrante, lo cual es importante tener en cuenta para el tratamiento de los casos. Se presenta un caso de tuberculosis por Mycobacterium africanum multirresistente al tratamiento, con evolución satisfactoria posterior a la terapia múltiple.

Tuberculosis, considered since 2003 by the World Health Organization a global health emergency, causes annual mortality of approximately 2 million people, mainly in developing countries. In the Spanish pediatric population, the incidence is 5 cases/100 000 children between 5 and 14 years and 13 cases/100 000 children between 0 and 4 years. The infection is transmitted through the respiratory tract by baciliferous patients. Children eliminate few bacilli in respiratory secretions and do not usually transmit the infection. In Spain, the resistance to isoniazid in the general population is 5%, being higher in the immigrant population, which is important to take into account for the treatment of cases. A case of tuberculosis due to Mycobacterium africanum multiresistant to treatment is presented, with satisfactory evolution after multiple therapy.

[Tuberculosis by multiresistant Mycobacterium africanum. Pediatric clinical case]. / Tuberculosis por Mycobacterium africanum multirresistente. Caso clínico pediátrico.

Tuberculosis, considered since 2003 by the World Health Organization a global health emergency, causes annual mortality of approximately 2 million people, mainly in developing countries. In the Spanish pediatric population, the incidence is 5 cases/100 000 children between 5 and 14 years and 13 cases/100 000 children between 0 and 4 years. The infection is transmitted through the respiratory tract by baciliferous patients. Children eliminate few bacilli in respiratory secretions and do not usually transmit the infection. In Spain, the resistance to isoniazid in the general population is 5%, being higher in the immigrant population, which is important to take into account for the treatment of cases. A case of tuberculosis due to Mycobacterium africanum multiresistant to treatment is presented, with satisfactory evolution after multiple therapy.

La tuberculosis, considerada desde 2003 por la Organización Mundial de la Salud una emergencia global de salud, provoca una mortalidad anual de alrededor de 2 millones de personas, fundamentalmente, en países en vías de desarrollo. En la población pediátrica española, la incidencia es de 5 casos/100 000 niños de entre 5 y 14 años y 13 casos/100 000 niños de entre 0 y 4 años. La infección se transmite por vía respiratoria por enfermos bacilíferos. Los niños eliminan escasos bacilos en secreciones respiratorias y no suelen transmitir la infección. En España, el porcentaje de resistencias a isoniazida en la población general es de 5% y es superior en la población inmigrante, lo cual es importante tener en cuenta para el tratamiento de los casos. Se presenta un caso de tuberculosis por Mycobacterium africanum multirresistente al tratamiento, con evolución satisfactoria posterior a la terapia múltiple.

Vómitos y dolor abdominal: a veces nos pueden sorprender / Vomiting and abdominal pain: sometimes we may be surprised

La incidencia de litiasis renal se ha multiplicado por cinco en las últimas décadas, siendo la modificación de los patrones alimenticios una de las principales causas. La recurrencia de la enfermedad es muy frecuente si no se diagnostican las causas y se tratan precozmente. La hipercalciuria es la causa más frecuente de litiasis en la infancia, pero existen otras alteraciones metabólicas implicadas que deben descartarse (AU)

Renal lithiasis incidence has increased in recent decades, being one of the main causes the changes of eating paterns. Recurrence of the disease is very frequent if the causes are not diagnosed and treated early. Hypercalciuria is the most frequent cause of childhood lithiasis, but there are other metabolic alterations involved that should be ruled out (AU)