Transient early-childhood hyperkalaemia without salt wasting, pathophysiological approach of three cases.

Two types of early childhood hyperkalemia had been recognized, according to the presence or absence of urinary salt wasting. This condition was attributed to a maturation disorder of aldosterone receptors and is characterized by sustained hyperkalemia, hyperchloremic metabolic acidosis (MA) due to reduced ammonium urinary excretion and bicarbonate loss, and normal creatinine with growth delay. We present 3 patients of the type without salt wasting, which we will call transient early-childhood hyperkalemia (TECHH) without salt wasting, and discuss its physiopathology according to new insights into sodium and potassium handling by the aldosterone in distal nephron. In 3 children from 30 to 120-day-old admitted with bronchiolitis and growth delay hyperkalemia was found in routine laboratory. Further studies revealed a normal creatinine with inappropriately normal or low fractional excretion (FE) of potassium, accompanied by inadequately normal serum aldosterone and plasma renin activity for their higher plasma potassium levels, but without urine salt wasting. They also presented hyperchloremic MA with FE of bicarbonate 0.58%-2.2%, positive urinary anion gap during MA and normal ability to acidify the urine. Based on these findings a diagnosis of TECHH without salt wasting was made and they were treated sodium bicarbonate and hydrochlorothiazide with favorable response. The condition was transient in all cases leading to treatment discontinuation. Given that TECCH without salt wasting is a tubular disorder of transient nature with mild symptoms; it must be keep in mind in the differential diagnosis of hyperkalemia in young children.

Hiperpotasemia transitoria del lactante sin pérdida salina, enfoque fisiopatológico de tres casos / Transient early-childhood hyperkalemia without salt wasting, physiopathological approach of three cases

Se reconocen 2 variedades de hiperpotasemia temprana de la infancia (del inglés Early childhood hyperkalemia) según la presencia o no de pérdida salina urinaria. Se trata de una entidad atribuida a un desorden madurativo en los receptores de aldosterona caracterizada por hiperpotasemia, acidosis metabólica hiperclorémica por diminución de la eliminación de amonio y bicarbonaturia, y creatinina normal con retraso de crecimiento. Presentamos 3 pacientes de la forma con ausencia de pérdida salina, a la que denominaremos hiperpotasemia transitoria del lactante sin pérdida salina, y discutimos su fisiopatología con relación a los nuevos conocimientos en el manejo tubular del sodio y el potasio por la aldosterona. En 3 pacientes de entre 30 y 120 días de edad con bronquiolitis y retraso de crecimiento se encontró hiperpotasemia en laboratorio de rutina. Presentaban creatinina normal, excreción fraccionada de potasio disminuida o inapropiadamente normal junto a niveles de aldosterona y renina plasmática inadecuadamente normales para el estado de hiperpotasemia, pero sin pérdida salina. También cursaban con acidosis metabólica hiperclorémica con bicarbonaturia (excreción fraccionada de bicarbonato 0,58-2,2%), anión restante urinario positivo durante acidosis metabólica y capacidad normal para acidificar la orina. En base a estos hallazgos se diagnosticó hiperpotasemia transitoria del lactante sin pérdida salina y se trataron con bicarbonato de sodio e hidroclorotiazida con buena respuesta. El cuadro fue transitorio permitiendo la suspensión del tratamiento. Dado que la hiperpotasemia transitoria del lactante sin pérdida salina es un desorden tubular transitorio con síntomas leves debe tenerse presente en el diagnóstico diferencial de hiperpotasemia en niños pequeños. (AU)

Two types of early-childhood hyperkalemia had been recognized, according to the presence or absence of urinary salt wasting. This condition was attributed to a maturation disorder of aldosterone receptors and is characterized by sustained hyperkalemia, hyperchloremic metabolic acidosis due to reduced ammonium urinary excretion and bicarbonate loss, and normal creatinine with growth delay. We present three patients of the type without salt wasting, which we will call transient early-childhood hyperkalemia without salt wasting, and discuss its physiopathology according to new insights into sodium and potassium handling by the aldosterone in distal nephron. In three children from 30 to 120-day-old admitted with bronchiolitis and growth delay hyperkalemia was found in routine laboratory. Further studies revealed a normal creatinine with inappropriately normal or low fractional excretion of potassium, accompanied by inadequately normal serum aldosterone and plasma renin activity for their higher plasma potassium levels, but without urine salt wasting. They also presented hyperchloremic metabolic acidosis with fractional excretion of bicarbonate 0.58–2.2%, positive urinary anion gap during metabolic acidosis and normal ability to acidify the urine. Based on these findings a diagnosis of transient early-childhood hyperkalemia without salt wasting was made and they were treated sodium bicarbonate and hydrochlorothiazide with favorable response. The condition was transient in all cases leading to treatment discontinuation. Given that transient early-childhood hyperkalemia without salt wasting is a tubular disorder of transient nature with mild symptoms; it must be keep in mind in the differential diagnosis of hyperkalemia in young children. (AU)

Transient early-childhood hyperkalemia without salt wasting, physiopathological approach of three cases. / Hiperpotasemia transitoria del lactante sin pérdida salina, enfoque fisiopatológico de tres casos.

Two types of early-childhood hyperkalemia had been recognized, according to the presence or absence of urinary salt wasting. This condition was attributed to a maturation disorder of aldosterone receptors and is characterized by sustained hyperkalemia, hyperchloremic metabolic acidosis due to reduced ammonium urinary excretion and bicarbonate loss, and normal creatinine with growth delay. We present three patients of the type without salt wasting, which we will call transient early-childhood hyperkalemia without salt wasting, and discuss its physiopathology according to new insights into sodium and potassium handling by the aldosterone in distal nephron. In three children from 30 to 120-day-old admitted with bronchiolitis and growth delay hyperkalemia was found in routine laboratory. Further studies revealed a normal creatinine with inappropriately normal or low fractional excretion of potassium, accompanied by inadequately normal serum aldosterone and plasma renin activity for their higher plasma potassium levels, but without urine salt wasting. They also presented hyperchloremic metabolic acidosis with fractional excretion of bicarbonate 0.58-2.2%, positive urinary anion gap during metabolic acidosis and normal ability to acidify the urine. Based on these findings a diagnosis of transient early-childhood hyperkalemia without salt wasting was made and they were treated sodium bicarbonate and hydrochlorothiazide with favorable response. The condition was transient in all cases leading to treatment discontinuation. Given that transient early-childhood hyperkalemia without salt wasting is a tubular disorder of transient nature with mild symptoms; it must be keep in mind in the differential diagnosis of hyperkalemia in young children.

[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia]. / Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa.

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy.

Hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa. Presentación de dos casos / Congenital adrenal hyperplasia related to hydroxilase-21 deficiency. A two-case report

Se presentan dos recién nacidos con Hiperplasia Suprarrenal Congénita por déficit de 21-hidroxilasa clásica, diagnosticadas en el Servicio de Endocrinología del Hospital Pediátrico Provincial Docente "Pepe Portilla" de Pinar del Río, Cuba. Se exponen las diferencias clínicas entre los niños afectados en relación con el sexo, evidenciando dificultades diagnósticas en el varón, que lo expone a complicaciones graves por los desequilibrios hidroelectrolíticos que pueden sufrir con elevado riesgo para su vida. Se presenta información sobre la entidad, revisando la genética de la misma y algunos adelantos en su diagnóstico precoz.

Two infants presenting congenital adrenal hyperplasia due to classical 21-hydroxylase deficiency were diagnosed in Endocrinology Service belonging to "Pepe Portilla" Pediatric Teaching Provincial Hospital, Pinar del Río, Cuba. Clinical differences among the infants affected in relation to sex were showed, making evident diagnostic difficulties in male infant, which increase the risk of severe electrolyte imbalance complications for life. Information about the entity was presented, revising its genetics and some advances for its early diagnosis.