Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

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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 ( n = 105), an online survey sent out to the European Reference Network for Rare Kidney Diseases ( n = 60), and a literature search ( n = 218).

RESULTS: A total of 383 individuals were available for analysis: 116 NPHP1, 101 NPHP3, 81 NPHP4 and 85 NPHP11/TMEM67 patients. Kidney survival differed between the 4 cohorts with a highly variable median age at onset of ESKD as follows: NPHP3, 4.0 years (interquartile range 0.3-12.0); NPHP1, 13.5 years (interquartile range 10.5-16.5); NPHP4, 16.0 years (interquartile range 11.0-25.0); and NPHP11/TMEM67, 19.0 years (interquartile range 8.7-28.0). Kidney survival was significantly associated with the underlying variant type for NPHP1, NPHP3, and NPHP4. Multivariate analysis for the NPHP1 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.

Original languageEnglish
Pages (from-to)2016-2028
Number of pages13
JournalKidney International Reports
Issue number9
Publication statusPublished - Sept 2022


  • end-stage kidney disease
  • genetic variant severity
  • genotype-phenotype correlations
  • kidney survival
  • nephronophthisis
  • prognostic factors


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