Nephrogenic syndrome of inappropriate antidiuresis
Nephrogenic syndrome of inappropriate antidiuresis
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DOI：
10.1056/nejmoa042743
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发表时间：
2005-05-05
影响因子：
158.5
通讯作者：
Gitelman, SE
中科院分区：
文献类型：
--
作者：
Feldman, BJ;Rosenthal, SM;Gitelman, SE
抗利尿激素分泌不当综合征（SIADH）是低钠血症的常见原因。我们描述了两个婴儿的临床和实验室评估是一致的SIADH的存在下，但谁检测不到精氨酸加压素（AVP）水平。我们假设他们在V2加压素受体（V2R）中存在功能获得性突变。对每个患者的V2R基因（AVPR2）进行DNA测序，发现两者都存在错义突变，导致密码子137从精氨酸变为半胱氨酸或亮氨酸。这些新的突变导致受体的组成性激活，并且可能是患者SIADH样临床表现的原因，我们称之为“抗利尿剂不当的肾源性综合征”。''
The syndrome of inappropriate antidiuretic hormone secretion (SIADH) is a common 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-function mutations in the V2 vasopressin receptor (V2R). DNA sequencing of each patient's V2R gene (AVPR2) identified missense mutations in both, with resultant changes in codon 137 from arginine to cysteine or leucine. These novel mutations cause constitutive activation of the receptor and are the likely cause of the patients' SIADH-like clinical picture, which we have termed ``nephrogenic syndrome of inappropriate antidiuresis.''