Koenig, Jens Christian, Karsay, Rebeka, Gerss, Joachim, Schlingmann, Karl-Peter, Dahmer-Heath, Mareike, Telgmann, Anna-Katharina, Kollmann, Sabine, Ariceta, Gema, Gillion, Valentine, Bockenhauer, Detlef, Bertholet-Thomas, Aurelia, Mastrangelo, Antonio, Boyer, Olivia, Lilien, Marc, Decramer, Stephane, Schanstra, Joost P., Pohl, Martin, Schild, Raphael, Weber, Stefanie, Hoefele, Julia, Drube, Jens, Cetiner, Metin, Hansen, Matthias, Thumfart, Julia, Toenshoff, Burkhard, Habbig, Sandra, Liebau, Max Christoph ORCID: 0000-0003-0494-9080, Bald, Martin, Bergmann, Carsten, Pennekamp, Petra and Konrad, Martin (2022). Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis. Kidney Int. Rep., 7 (9). S. 2016 - 2029. NEW YORK: ELSEVIER SCIENCE INC. ISSN 2468-0249

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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 character-istics 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 pa-tients with NPH and thereby allow personalized counseling.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Koenig, Jens ChristianUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Karsay, RebekaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gerss, JoachimUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schlingmann, Karl-PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dahmer-Heath, MareikeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Telgmann, Anna-KatharinaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kollmann, SabineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ariceta, GemaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Gillion, ValentineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bockenhauer, DetlefUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bertholet-Thomas, AureliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mastrangelo, AntonioUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boyer, OliviaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lilien, MarcUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Decramer, StephaneUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schanstra, Joost P.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pohl, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Schild, RaphaelUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Weber, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hoefele, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Drube, JensUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Cetiner, MetinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hansen, MatthiasUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Thumfart, JuliaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Toenshoff, BurkhardUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Habbig, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Liebau, Max ChristophUNSPECIFIEDorcid.org/0000-0003-0494-9080UNSPECIFIED
Bald, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Bergmann, CarstenUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Pennekamp, PetraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Konrad, MartinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
URN: urn:nbn:de:hbz:38-698321
DOI: 10.1016/j.ekir.2022.05.035
Journal or Publication Title: Kidney Int. Rep.
Volume: 7
Number: 9
Page Range: S. 2016 - 2029
Date: 2022
Publisher: ELSEVIER SCIENCE INC
Place of Publication: NEW YORK
ISSN: 2468-0249
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
ANGIOTENSIN-ALDOSTERONE SYSTEM; ADOLESCENT NEPHRONOPHTHISIS; JUVENILE NEPHRONOPHTHISIS; INTERSTITIAL NEPHRITIS; TMEM67 MUTATIONS; DISEASE; IDENTIFICATION; PROGRESSION; NPHP3; BENAZEPRILMultiple languages
Urology & NephrologyMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/69832

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