Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis
König, Jens Christian (Department of General Pediatrics, University Children's Hospital Münster)
Karsay, Rebeka (Department of General Pediatrics, University Children's Hospital Münster)
Gerß, Joachim (Institute of Biostatistics and Clinical Research, University of Münster)
Schlingmann, Karl-Peter (Department of General Pediatrics, University Children's Hospital Münster)
Dahmer-Heath, Mareike (Department of General Pediatrics, University Children's Hospital Münster)
Telgmann, Anna-Katharina (Department of General Pediatrics, University Children's Hospital Münster)
Kollmann, Sabine (Department of General Pediatrics, University Children's Hospital Münster)
Ariceta Iraola, Gema (Hospital Universitari Vall d'Hebron)
Gillion, Valentine (Division of Nephrology, Saint-Luc Academic Hospital, Université Catholique Louvain)
Bockenhauer, Detlef (Great Ormond Street Hospital for Children (Londres))
Bertholet-Thomas, Aurélia (Centre de Référence des Maladies Rénales Rares-Néphrogones-Hôpital Femme Mère Enfant, Hospices Civils de Lyon-Filière ORKiD)
Mastrangelo, Antonio (Fondazione Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ca' Granda Ospedale Maggiore Policlinico)
Boyer, Olivia (Hôpital Necker-Enfants Malades, Université de Paris)
Lilien, Marc (Department of Pediatric Nephrology, University Medical Center Utrecht)
Decramer, Stéphane (Université Toulouse III Paul-Sabatier)
Schanstra, Joost. P. (Université Toulouse III Paul-Sabatier)
Pohl, Martin (Department of Pediatrics, University Hospital Freiburg)
Schild, Raphael (University Medical Center Hamburg-Eppendorf)
Weber, Stefanie (University Children's Hospital)
Hoefele, Julia (Institut für Humangenetik)
Drube, Jens (Departement of Pediatric Nephrology, Medical School Hannover)
Cetiner, Metin (Department of Pediatric Nephrology, University of Duisburg-Essen)
Hansen, Matthias (Clementine Kinderhospital)
Thumfart, Julia (Charité - Universitätsmedizin Berlin)
Tönshoff, Burkhard (Department of Pediatrics I, University Children's Hospital Heidelberg)
Habbig, Sandra (Department of Pediatric, University of Cologne)
Liebau, Max Christoph (University Hospital Cologne and Medical)
Bald, Martin (Children's Hospital (Alemanya))
Bergmann, Carsten (Medizinische Genetik Mainz (Alemanya))
Pennekamp, Petra (Department of General Pediatrics, University Children's Hospital Münster)
Konrad, Martin (Department of General Pediatrics, University Children's Hospital Münster)
Universitat Autònoma de Barcelona

Data:	2022
Resum:	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. 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). 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. The presented data will enable clinicians to better estimate kidney prognosis of distinct patients with NPH and thereby allow personalized counseling.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, i la comunicació pública de l'obra, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. No es permet la creació d'obres derivades.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	End-stage kidney disease ; Genetic variant severity ; Genotype-phenotype correlations ; Kidney survival ; Nephronophthisis ; Prognostic factors
Publicat a:	Kidney International Reports, Vol. 7 (june 2022) , p. 2016-2028, ISSN 2468-0249

DOI: 10.1016/j.ekir.2022.05.035
PMID: 36090483

13 p, 1.6 MB

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