Renal Outcomes of Children with Nephrogenic Diabetes Insipidus

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%).

Reference

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.