Congenital nephrogenic diabetes insipidus presented with bilateral hydronephrosis: genetic analysis of V2R gene mutations.
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.
Yoo
Tae-Hyun
TH
Department of Internal Medicine, Yonsei University College of Medicine, Seodaemun-gu, Seoul 120-752, Korea.
Ryu
Dong-Ryeol
DR
Song
Young Soo
YS
Lee
Sang Chul
SC
Kim
Hyung Jong
HJ
Kim
Joo Seong
JS
Choi
Hoon Young
HY
Kang
Shin-Wook
SW
D000328:Adult; D004252:DNA Mutational Analysis; D018500:Diabetes Insipidus, Nephrogenic / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006869:Hydronephrosis / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D020125:Mutation, Missense; D011141:Polyuria / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D017483:Receptors, Vasopressin / Q000235:genetics*
D017483:Receptors, Vasopressin