| Abstract | 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. |
| Authors | Zelal Bircan, Nihal Karacayir, Hae Ii Cheong
(Affiliation: Department of Pediatric Nephrology, Kocaeli University Hospital, Umuttepe Kocaeli, Turkey. zbircan at superonline.com)
|
| Journal | Pediatric nephrology (Berlin, Germany)
(Pediatr Nephrol)
Vol. 23
Issue 4
Pg. 663-5
(Apr 2008)
ISSN: 0931-041X Germany |
| PMID | 18040725
(Publication Type: Case Reports, Journal Article)
|
| Chemical References |
- Aquaporin 2
- Deamino Arginine Vasopressin
|
| Topics |
- Aquaporin 2
(genetics)
- Chromosome Disorders
- DNA Mutational Analysis
- Deamino Arginine Vasopressin
(diagnostic use)
- Diabetes Insipidus, Nephrogenic
(diagnosis, genetics, metabolism)
- Humans
- Infant
- Male
- Point Mutation
|
