The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, ye...The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, yet who had undetectable arginine vasopressin (AVP) levels. We hypothesized that they had gain-of-func tion mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each pati ent’s V2R gene (AVPR2) identified missense mutations in both, with resultant ch anges in codon 137 from arginine to cysteine or leucine. These novel mutations c ause constitutive activation of the receptor and are the likely cause of the pat ients’SIADH-like clinical picture, which we have termed “nephrogenic syndrome of inappropriate antidiuresis.”展开更多
文摘The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a comm on cause of hyponatremia. We describe two infants whose clinical and laboratory evaluations were consistent with the presence of SIADH, yet who had undetectable arginine vasopressin (AVP) levels. We hypothesized that they had gain-of-func tion mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each pati ent’s V2R gene (AVPR2) identified missense mutations in both, with resultant ch anges in codon 137 from arginine to cysteine or leucine. These novel mutations c ause constitutive activation of the receptor and are the likely cause of the pat ients’SIADH-like clinical picture, which we have termed “nephrogenic syndrome of inappropriate antidiuresis.”
