ABSTRACT
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.
Subject(s)
Hyponatremia/genetics , Mutation , Receptors, Vasopressin/genetics , Chronic Disease , Diagnosis, Differential , Extracellular Fluid/metabolism , Humans , Hyponatremia/diagnosis , Hyponatremia/metabolism , Hyponatremia/therapy , Inappropriate ADH Syndrome/diagnosis , Infant , Male , Sodium/metabolismABSTRACT
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.
