Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Introduction: Nephronophthisis (NPH) comprises a group of rare disorders accounting for up to 10% of end-stage kidney disease (ESKD) in children. Prediction of kidney prognosis poses a major challenge. We assessed differences in kidney survival, impact of variant type, and the association of clinical characteristics with declining kidney function.

Methods: Data was obtained from 3 independent sources, namely the network for early onset cystic kidney diseases clinical registry ( 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases ( 60), and a literature search ( 218).

Results: A total of 383 individuals were available for analysis: 116 , 101 , 81 and 85 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: 4.0 years (interquartile range 0.3-12.0); , 13.5 years (interquartile range 10.5-16.5); 16.0 years (interquartile range 11.0-25.0); and 19.0 years (interquartile range 8.7-28.0). Kidney survival was significantly associated with the underlying variant type for , , and . Multivariate analysis for the cohort revealed growth retardation (hazard ratio 3.5) and angiotensin-converting enzyme inhibitor (ACEI) treatment (hazard ratio 2.8) as 2 independent factors associated with an earlier onset of ESKD, whereas arterial hypertension was linked to an accelerated glomerular filtration rate (GFR) decline.

Conclusion: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling.