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.
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Bircan, Z., Karacayir, N. & II Cheong, H. A case of aquaporin 2 R85X mutation in a boy with congenital nephrogenic diabetes insipidus. Pediatr Nephrol 23, 663–665 (2008). https://doi.org/10.1007/s00467-007-0682-0
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DOI: https://doi.org/10.1007/s00467-007-0682-0