All issues > Volume 45(7); 2002

Case Report

J Korean Pediatr Soc. 2002;45(7):902-905. Published online July 15, 2002.

A Case of Congenital Partial Nephrogenic Diabetes Insipidus

Eun Ha EH Mo¹, In Hye IH Nam¹, Min Ja MJ Chung¹, Jae Hong JH Yu¹

¹Department of Pediatrics, College of Medicine, Chungnam National University, Daejon, Korea

Correspondence Jae Hong JH Yu ,Email: jhongyu@cuvic.cnu.ac.kr

Abstract

The most common form of genetic nephrogenic diabetes insipidus(NDI), a rare inherited disorder, is congenital and is transmitted in an X-linked recessive mode. It is refractory to the antidiuretic effect of normal to moderately increased levels of plasma arginine vasopressin(AVP) but, in some cases, may respond to high levels of the hormone or its analogue, deamino-D-arginine vasopressin(DDAVP). X-linked congenital NDI has now been linked to over 128 different mutations in diverse coding regions of the AVP receptor 2(AVPR2) gene. The functional effects of these mutations vary from complete loss of responsiveness to a simple shift to the right in the dose response curve. We report a case of congenital partial NDI, with transversion of A to G at codon 280 of the AVPR2 gene, resulting in a subsequent change of amino acid from tyrosine to cysteine, and that has been effective with hydrochlorothiazide and high dose of DDAVP.

Keywords :Arginine vasopressin receptor 2 gene, Mutation, Congenital partial nephrogenic diabetes insipidus