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 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.
Department of Pediatric Nephrology, Kocaeli University Hospital, Umuttepe Kocaeli, Turkey. zbircan@superonline.com
Zelal
Z
Bircan
Nihal
N
Karacayir
Hae Ii
HI
Cheong
D051399:Aquaporin 2 / Q000235:genetics*; D025063:Chromosome Disorders; D004252:DNA Mutational Analysis; D003894:Deamino Arginine Vasopressin; D018500:Diabetes Insipidus, Nephrogenic / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation
D051399:Aquaporin 2; D003894:Deamino Arginine Vasopressin