ORIGINAL RESEARCH article
Front. Pediatr.
Sec. Pediatric Endocrinology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1623342
Novel AVPR2 Mutations in Congenital Nephrogenic Diabetes Insipidus: Clinical Chara cteristics and Genetic Analysis
Provisionally accepted
- 1West China Second University Hospital, Sichuan University, Chengdu, China
- 2Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China, Chengdu, China
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Congenital nephrogenic diabetes insipidus (NDI) is a rare hereditary disorder caused by m utations in two critical genes: the arginine vasopressin receptor 2 (AVPR2) and the aquapo rin 2 genes. Mutations in the AVPR2 gene, which are predominantly X-linked, account for a significant proportion of cases, particularly in males. Nevertheless, research on this con dition in the West Chinese population remains limited. METHODS Eleven subjects from nine families with NDI were screened for AVPR2 mutations. Clinical features were documented, and genotype-phenotype associations were investigated.This study comprised eleven pediatric patients with congenital NDI, including ten males a nd one female. They were diagnosed between the ages of 1 month and 7 years. The clini cal presentations included growth retardation, polydipsia, and polyuria in all patients (11/1 1), hypernatremia in ten cases (10/11), renal pelvis dilation in four cases (4/11), posterior pituitary high signal disappearance on pituitary magnetic resonance imaging in three cases (3/11), unexplained fever in two cases (2/11), and recurrent vomiting and mental retardatio n each in one patient (1/11). Genetic analysis revealed eight AVPR2 mutations among the eleven patients with congenital NDI, three of which were novel: p. Ile46Serfs*145、p.Ile17 7del and p. Ser327Ilefs*30.In the largest case series of congenital NDI caused by an AVPR2 mutation in the West C hinese population, eight AVPR2 mutations were identified, including three novel mutations. This study contributes to the existing literature by elucidating the clinical manifestations of congenital NDI by analyzing eleven cases and identifying three novel mutation sites, th ereby augmenting the genetic understanding of this condition.
Keywords: Congenital nephrogenic diabetes insipidus, AVPR2, AQP2, Novel mutation, Treatment
Received: 05 May 2025; Accepted: 15 Jul 2025.
Copyright: © 2025 Xue, Wu, Lyu, Sun, Liu and Yuan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Kunjiao Xue, West China Second University Hospital, Sichuan University, Chengdu, China
Chuanjie Yuan, Department of Pediatrics, West China Second Hospital, Sichuan University, Chengdu, China, Chengdu, China
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