Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: Genetic analysis of V2R gene mutations

Tae Hyun Yoo, Dong Ryeol Ryu, Young Soo Song, Sang Chul Lee, Hyung Jong Kim, Joo Seong Kim, Hoon Young Choi, Shin Wook Kang

Research output: Contribution to journalArticle

11 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)126-130
Number of pages5
JournalYonsei medical journal
Volume47
Issue number1
DOIs
Publication statusPublished - 2006 Feb 6

All Science Journal Classification (ASJC) codes

  • Medicine(all)

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