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首页> 外文期刊>International Journal of Pediatrics >Nephrogenic Syndrome of Inappropriate Antidiuresis
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Nephrogenic Syndrome of Inappropriate Antidiuresis

机译：抗利尿不当的肾病综合症

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Mutations in the vasopressin V2 receptor gene are responsible for two human tubular disorders: X-linked congenital nephrogenic diabetes insipidus, due to a loss of function of the mutant V2 receptor, and the nephrogenic syndrome of inappropriate antidiuresis, due to a constitutive activation of the mutant V2 receptor. This latter recently described disease may be diagnosed from infancy to adulthood, as some carriers remain asymptomatic for many years. Symptomatic children, however, typically present with clinical and biological features suggesting inappropriate antidiuretic hormone secretion with severe hyponatremia and high urine osmolality, but a low plasma arginine vasopressin level. To date, only two missense mutations in the vasopressin V2 receptor gene have been found in the reported patients. The pathophysiology of the disease requires fuller elucidation as the phenotypic variability observed in patients bearing the same mutations remains unexplained. The treatment is mainly preventive with fluid restriction, but urea may also be proposed.
机译：血管加压素V2受体基因的突变是造成两种人类肾小管疾病的原因：由于X型连锁的先天性肾原性尿崩症（由于突变型V2受体的功能丧失）和不适当的抗利尿作用的肾病综合症（由于肾小球的组成性激活）突变型V2受体。由于一些携带者多年来无症状，因此从婴儿期到成年期都可以诊断为后者。然而，有症状的儿童通常表现出临床和生物学特征，提示抗利尿激素分泌不当，伴有严重的低钠血症和高尿渗透压，但血浆精氨酸加压素水平较低。迄今为止，在所报道的患者中仅发现了加压素V2受体基因的两个错义突变。该疾病的病理生理学需要更充分的阐明，因为在携带相同突变的患者中观察到的表型变异性尚无法解释。该治疗主要是预防和限制体液，但也可以建议使用尿素。

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