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Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC1

E. Olinger, P. Hofmann, K. Kidd, I. Dufour, H. Belge, C. Schaeffer, A. Kipp, O. Bonny, C. Deltas, N. Demoulin, T. Fehr, DG. Fuster, DP. Gale, E. Goffin, K. Hodaňová, U. Huynh-Do, A. Kistler, J. Morelle, G. Papagregoriou, Y. Pirson, R. Sandford,...

. 2020 ; 98 (3) : 717-731. [pub] 20200522

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21020203

Grantová podpora
R21 DK106584 NIDDK NIH HHS - United States
NV17-29786A MZ0 CEP - Centrální evidence projektů

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. We analyzed two registries from Europe and the United States to define genetic and clinical characteristics of ADTKD-UMOD and ADTKD-MUC1 and develop a practical score to guide genetic testing. Our study encompassed 726 patients from 585 families with a presumptive diagnosis of ADTKD along with clinical, biochemical, genetic and radiologic data. Collectively, 106 different UMOD mutations were detected in 216/562 (38.4%) of families with ADTKD (303 patients), and 4 different MUC1 mutations in 72/205 (35.1%) of the families that are UMOD-negative (83 patients). The median kidney survival was significantly shorter in patients with ADTKD-MUC1 compared to ADTKD-UMOD (46 vs. 54 years, respectively), whereas the median gout-free survival was dramatically reduced in patients with ADTKD-UMOD compared to ADTKD-MUC1 (30 vs. 67 years, respectively). In contrast to patients with ADTKD-UMOD, patients with ADTKD-MUC1 had normal urinary excretion of uromodulin and distribution of uromodulin in tubular cells. A diagnostic algorithm based on a simple score coupled with urinary uromodulin measurements separated patients with ADTKD-UMOD from those with ADTKD-MUC1 with a sensitivity of 94.1%, a specificity of 74.3% and a positive predictive value of 84.2% for a UMOD mutation. Thus, ADTKD-UMOD is more frequently diagnosed than ADTKD-MUC1, ADTKD subtypes present with distinct clinical features, and a simple score coupled with urine uromodulin measurements may help prioritizing genetic testing.

Broad Institute of MIT and Harvard Massachusetts Institute of Technology Cambridge Massachusetts USA

Center for Human Genetics Institute of Pathology and Genetics Gosselies Belgium

Department of Internal Medicine Cantonal Hospital Frauenfeld Frauenfeld Switzerland

Department of Internal Medicine Cantonal Hospital Graubuenden Chur Switzerland

Department of Internal Medicine Hospital Uster Uster Switzerland

Department of Medical Genetics Cambridge Biomedical Campus Cambridge UK

Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston Massachusetts USA

Department of Nephrology and Hypertension Inselspital Bern University Hospital Bern Switzerland

Department of Nephrology University College of London London UK

Division of Genetics and Cell Biology San Raffaele Scientific Institute Milan Italy

Division of Nephrology Cliniques Universitaires Saint Luc Brussels Belgium

Division of Nephrology Department of Internal Medicine Cantonal Hospital Graubuenden Chur Switzerland

Division of Nephrology Department of Internal Medicine Hospital Davos Davos Switzerland

Inherited Renal Disorders Nephrology Department Fundació Puigvert Spanish Renal Research Network Instituto de Investigaciones Biomédicas Sant Pau Universitat Autònoma de Barcelona Barcelona Spain

Institut de Recherche Expérimentale et Clinique Université catholique de Louvain Brussels Belgium

Institute of Physiology University of Zurich Zurich Switzerland

Molecular Medicine Research Center Department of Biological Sciences University of Cyprus Nicosia Cyprus

Renal Services Newcastle upon Tyne Hospitals National Health Service Trust Newcastle upon Tyne UK

Research Unit for Rare Diseases Department of Pediatrics and Adolescent Medicine 1st Faculty of Medicine Charles University Prague Czech Republic

Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA

Service of Nephrology Lausanne University Hospital Lausanne Switzerland

Translational and Clinical Research Institute Faculty of Medical Sciences Newcastle University Newcastle upon Tyne UK

Citace poskytuje Crossref.org

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