Nephrogenic diabetes insipidus: A case report
DOI:
https://doi.org/10.58597/rpe.v5i2.151Keywords:
Congenital nephrogenic diabetes insipidus, AVPR2, Hypernatremia, Neonate, AdolescentAbstract
Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder characterized by renal resistance to the action of arginine vasopressin, which leads to polyuria, polydipsia, and hypernatremia. We describe the case of a 12-year-old boy who began experiencing symptoms at 15 days of life with persistent fever, irritability, polyuria, and constipation, initially diagnosed as a urinary tract infection. Due to persistent hypernatremia and lack of response to desmopressin treatment, a diagnosis of NDI was considered. Genetic testing identified a pathogenic variant in the AVPR2 gene, responsible for an X-linked inheritance pattern. The patient received treatment with hydrochlorothiazide, amiloride, and indomethacin, achieving adequate clinical control and favorable evolution in growth and development; however, he experienced an episode of severe hypokalemia during follow-up. This case highlights the importance of early recognition, genetic confirmation, diagnosis, and follow-up of this pathology in order to prevent future complications and improve long-term prognosis.
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