Article
[Diagnosis and follow-up of 2 cases of pediatric nephrogenic syndrome of inappropriate antidiuresis resulting from activating mutation in AVPR2 and literature review].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Feb 2021
Chen J J, Gong C X, Wei L Y, Cao B Y, Wu D, Liu Y, Li W J
Abstract excerpt
Objective: To analyze the clinical and genetic features, as well as the treatment outcomes of two boys with nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by gain-of-function mutations in the V2 vasopressin receptor gene (AVPR2). Methods: The clinical manifestations, genetic testing, therapeutic interventions and the outcomes of two boys with NSIAD hospitalized in the Department of...
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