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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...

Topics

Child
Child, Preschool
China
Follow-Up Studies
Genetic Diseases, X-Linked
Humans
Hyponatremia
Inappropriate ADH Syndrome
Infant
Male
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Receptors, Vasopressin

Source

Identifiers

PMID: 33548959
DOI: 10.3760/cma.j.cn112140-20200623-00660

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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