Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.

doi:10.1111/nep.70250

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Article

Nephrogenic Syndrome of Inappropriate Antidiuresis: Case Report and Genetic Perspectives.

Nephrology (Carlton, Vic.) - 1 Sept 2026

Chen Xiao-Juan, Kou Min, Feng Mei, Wang Li-Hua, Wei Jing-Jing

Abstract excerpt

AIM: To report a case of nephrogenic syndrome of inappropriate antidiuresis (NSIAD) caused by a de novo hemizygous hotspot variant (c.409C>T p.R137C) in the AVPR2 gene in a young male child, and to discuss the diagnostic approach, therapeutic management, and follow-up of NSIAD. METHODS: A 3-year and 2-month-old male child presenting with intermittent convulsions persisting for over one year and chronic...

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Topics

Humans
Male
Inappropriate ADH Syndrome
Receptors, Vasopressin
Child, Preschool
Hyponatremia
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Genetic Testing

Phenotype

Mutation

Treatment Outcome

DNA Mutational Analysis

Sodium

Genetic Diseases, X-Linked

Source

Open in PubMed Open full text

Identifiers

PMID: 42685775
DOI: 10.1111/nep.70250
PMCID: PMC13537857

Genes

AVPR2

Variants

Provenance

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