PMID: 16502494Feb 28, 2006Paper

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

Yonsei Medical Journal
Tae-Hyun YooShin-Wook Kang

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.

References

May 28, 1992·Nature·M BirnbaumerW Rosenthal
Jan 1, 1990·International Urology and Nephrology·T NakadaJ Shimazaki
Feb 1, 1985·British Journal of Urology·I A Aaronson, J Wiggelinkhuizen
Jan 2, 1996·American Journal of Medical Genetics·J A HoekstraV V Knoers
Sep 7, 1999·Journal of the American Society of Nephrology : JASN·A F van LieburgL A Monnens
Feb 22, 2001·Annual Review of Physiology·J P Morello, D G Bichet
Jan 17, 2002·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·N V Knoers, P M Deen

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Citations

Aug 30, 2008·Journal of Cellular Physiology·Elias SpanakisClaudia Gragnoli
Jun 17, 2015·Nature Reviews. Nephrology·Detlef Bockenhauer, Daniel G Bichet
Sep 14, 2013·Journal of Pediatric Endocrinology & Metabolism : JPEM·Che Ry HongHae Il Cheong

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