ArticleYonsei medical journal2006
Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
Article in Yonsei medical journal, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 22 citations in OpenAlex.
- The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.CEN case reports · 2025Article
- A Novel Missense Mutation of Arginine Vasopressin Receptor 2 in a Chinese Family with Congenital Nephrogenic Diabetes Insipidus: X-Chromosome Inactivation in Female CNDI Patients with Heterozygote 814A>G Mutation.BioMed research international · 2022Article
- Upper urinary dilatation and treatment of 26 patients with diabetes insipidus: A single-center retrospective study.Frontiers in endocrinology · 2022Article
- Novel AVPR2 mutations and clinical characteristics in 28 Chinese families with congenital nephrogenic diabetes insipidus.Journal of endocrinological investigation · 2021Article
- NovelFrontiers in endocrinology · 2021Article
- Molecular Characterization of an Aquaporin-2 Mutation Causing Nephrogenic Diabetes Insipidus.Frontiers in endocrinology · 2021Article
- Nephrogenic diabetes insipidus induced by ureter obstruction due to benign prostatic hyperplasia: A case report.Medicine · 2020Article
- Congenital Nephrogenic Diabetes Insipidus Presented With Bilateral Hydronephrosis and Urinary Infection: A Case Report.Medicine · 2016Article
- Pathophysiology, diagnosis and management of nephrogenic diabetes insipidus.Nature reviews. Nephrology · 2015Review
- Urological complications of congenital nephrogenic diabetes insipidus--long-term follow-up of one patient.International urology and nephrology · 2006Article
- Congenital nephrogenic diabetes insipidus presenting with bilateral hydronephrosis and dilatation of the ureter and bladder.Acute medicine & surgeryArticle
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Most cases of hydronephrosis are caused by urinary tract obstruction. However, excessive polyuric syndrome rarely gives rise to non-obstructive hydronephrosis, megaureter, and a distended bladder. The authors report here on two cases of congenital nephrogenic diabetes insipidus (NDI) with severe bilateral hydronephrosis and megaureter. It is Interesting that the patients were symptomless except for their polyuria, and they both presented with bilateral hydronephrosis. Fluid deprivation testing revealed the presence of AVP resistant NDI. Gene analysis for these patients showed the AVP receptor 2 (V2R) missense mutations (Q225X and S126F), which have previously been reported on in other studies. We made the diagnosis of NDI by using a physiologic test, and we confirmed it by mutation analysis of the V2R gene.
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