RESUMO
Chronic hyponatremia, unless associated with extracellular fluid volume expansion, is an infrequent electrolyte imbalance in pediatrics. We report an infant with chronic hyponatremia suggestive of a syndrome of inappropriate secretion of antidiuretic hormone (SIADH), in the absence of ADH secretion. A mutation was found in the same codon of the gene that results in a loss-of- function of arginine vasopressin receptor 2 (AVPR2) observed in congenital nephrogenic diabetes insipidus. In this case, a gain-of- function of AVPR 2 was found to be responsible for a SIADH-like state.
Assuntos
Hiponatremia/genética , Mutação , Receptores de Vasopressinas/genética , Doença Crônica , Diagnóstico Diferencial , Líquido Extracelular/metabolismo , Humanos , Hiponatremia/diagnóstico , Hiponatremia/metabolismo , Hiponatremia/terapia , Síndrome de Secreção Inadequada de HAD/diagnóstico , Lactente , Masculino , Sódio/metabolismoRESUMO
Se presenta una paciente con diagnóstico de HCAA tratada con corticoides que sufrió osteoporosis marcada de su columna vertebral. Se le administró calcio y vitamina D, con buena evolución clínico humoral raidológica densitométrica. Se plantea como otra alternativa terapéutica para contrarrestar la osteoporosis inducida por corticoides, la utilización de calcitonina intranasal y vitamina D.
