Yonsei Med J.  2006 Feb;47(1):126-130. 10.3349/ymj.2006.47.1.126.

Congenital Nephrogenic Diabetes Insipidus Presented with Bilateral Hydronephrosis: Genetic Analysis of V2R Gene Mutations

• Yoo TH
• Ryu DR
• Song YS
• Lee SC
• Kim HJ
• Kim JS
• Choi HY
• Kang SW

• KMID: 1715882
• DOI: http://doi.org/10.3349/ymj.2006.47.1.126

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.

Keyword

Bilateral hydronephrosis; congenital nephrogenic diabetes insipidus; V2R gene mutation

MeSH Terms

Receptors, Vasopressin/*genetics
Polyuria/complications/diagnosis/genetics
Mutation, Missense
Male
Hydronephrosis/complications/*diagnosis/genetics
Humans
Diabetes Insipidus, Nephrogenic/complications/*diagnosis/genetics
DNA Mutational Analysis
Adult

Figure

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  Fig. 1 X-ray findings of the two patients. Intravenous pyelogram (A) and abdomino-pelvic CT (B) of case 1 showing the marked bilateral dilatation of the ureter and calyceopelvic system. Abdominal CT scan (C) of case 2 revealing bilateral hydronephrosis. The bladder is markedly enlarged with severe trabeculation.

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  Fig. 2 Missense mutation identified by direct sequencing analysis in both case 1 and 2. The DNA chromatograms are shown. (A, Case 1) C to T transition at nucleoside position 1,105 results in a stop codon, leading to a premature termination at the 225 aminoacid residues (Gln 225 Term). (B, Case 2) One base substitution of C for T caused a substitution of Ser for Phe at the 126 amino acid position (S126F).

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