Back to Search
Start Over
Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis.
- Source :
-
Kidney international reports [Kidney Int Rep] 2022 Jun 16; Vol. 7 (9), pp. 2016-2028. Date of Electronic Publication: 2022 Jun 16 (Print Publication: 2022). - Publication Year :
- 2022
-
Abstract
- 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.<br />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).<br />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.<br />Conclusion: The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling.<br /> (© 2022 International Society of Nephrology. Published by Elsevier Inc.)
Details
- Language :
- English
- ISSN :
- 2468-0249
- Volume :
- 7
- Issue :
- 9
- Database :
- MEDLINE
- Journal :
- Kidney international reports
- Publication Type :
- Academic Journal
- Accession number :
- 36090483
- Full Text :
- https://doi.org/10.1016/j.ekir.2022.05.035