A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus

Autosomal recessive nephrogenic diabetes insipidus (ARNDI) is a rare disease usually seen in patients with consanguineous parents. We report on a case of ARNDI in a patient with non-consanguineous parents who presented with recurrent febrile attacks. The differential diagnosis of ARNDI was made by d...

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Bibliographic Details
Published in:Pediatric nephrology (Berlin, West) West), 2008-04, Vol.23 (4), p.663-665
Main Authors: Bircan, Zelal, Karacayir, Nihal, II Cheong, Hae
Format: Article
Language:English
Subjects:
Aquaporin 2 - genetics
Brief Report
Chromosome Disorders
Deamino Arginine Vasopressin
Diabetes Insipidus, Nephrogenic - diagnosis
Diabetes Insipidus, Nephrogenic - genetics
Diabetes Insipidus, Nephrogenic - metabolism
DNA Mutational Analysis
Humans
Infant
Male
Medicine & Public Health
Nephrology
Pediatrics
Point Mutation
Urology
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Summary:Autosomal recessive nephrogenic diabetes insipidus (ARNDI) is a rare disease usually seen in patients with consanguineous parents. We report on a case of ARNDI in a patient with non-consanguineous parents who presented with recurrent febrile attacks. The differential diagnosis of ARNDI was made by desmopressin infusion test. A homozygous mutation, R85X, was detected in the aquaporin 2 gene ( AQP2 ) of our patient, which has been described only once previously. This case is presented to stress that even male patients with non-consanguineous parents could have ARNDI with a AQP2 gene defect, and the desmopressin infusion test is useful for differential diagnosis.
ISSN:0931-041X
1432-198X
DOI:10.1007/s00467-007-0682-0