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Renal Outcomes of Children with Nephrogenic Diabetes Insipidus

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This chart review describes the clinical presentation, genetic etiology, treatment, and renal outcomes of children with congenital or primary nephrogenic diabetes insipidus (NDI). NDI is a rare genetic disorder that impairs renal concentrating ability.

In this multi-center retrospective chart review, 66 patients with a median age at diagnosis of 4.2 months (IQR 1.1, 9.8) were included. At a median age of 4.8 months (IQR 2.8, 7.6), a desmopressin acetate loading test was administered to 46% of patients, and approximately 15% had a water restriction test.

In 70% of patients there was a known family history or genetic testing available.

Genetic testing found that 89% of patients had mutations in AVPR2 and 11% had mutations in AQP2.

Patients were most commonly treated with thiazide diuretics (74%), potassium-sparing diuretics (67%) and non-steroidal anti-inflammatory drugs (42%). Prior to treatment, 70 and 71% of children were below -2 standard deviations (SD) for weight and height, respectively. At the final follow-up, the median age was 72.3 months (IQR 40.9, 137.2) and the percentage below -2 SD improved to 29% and 38% for weight and height, respectively.

Adverse outcomes included inpatient hospitalizations (61%), urologic complications (37%), and chronic kidney disease stage 2 or higher (23%).


D’Alessandri-Silva C, Carpenter M, Ayoob R, et al. Diagnosis, treatment, and outcomes in children with congenital nephrogenic diabetes insipidus: A pediatric nephrology research consortium study. Front Pediatr. 2020;ecollections 2019. DOI: 10.3389/fped.2019.00550.

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