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Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
K. Kidd, P. Vylet'al, C. Schaeffer, E. Olinger, M. Živná, K. Hodaňová, V. Robins, E. Johnson, A. Taylor, L. Martin, C. Izzi, SC. Jorge, J. Calado, RJ. Torres, K. Lhotta, D. Steubl, DP. Gale, C. Gast, E. Gombos, HC. Ainsworth, YM. Chen, JR....
Jazyk angličtina Země Spojené státy americké
Typ dokumentu časopisecké články
Grantová podpora
K08 DK089015
NIDDK NIH HHS - United States
R01 DK105056
NIDDK NIH HHS - United States
R03 DK106451
NIDDK NIH HHS - United States
R21 DK106584
NIDDK NIH HHS - United States
NV17-29786A
MZ0
CEP - Centrální evidence projektů
Digitální knihovna NLK
Plný text - Článek
NLK
Directory of Open Access Journals
od 2016
PubMed Central
od 2016
Europe PubMed Central
od 2016
ROAD: Directory of Open Access Scholarly Resources
od 2016
- Publikační typ
- časopisecké články MeSH
Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD-UMOD and to perform a Mendelian randomization study to determine if the minor allele of rs4293393 was associated with better kidney survival. Methods: An international group of collaborators collected clinical and genetic data on 722 affected individuals from 249 families with 125 mutations, including 28 new mutations. The median age of ESKD was 47 years. Men were at a much higher risk of progression to ESKD (hazard ratio 1.78, P < 0.001). Results: The allele frequency of the minor rs4293393 allele was only 11.6% versus the 19% expected (P < 0.01), resulting in Hardy-Weinberg disequilibrium and precluding a Mendelian randomization experiment. An in vitro score reflecting the severity of the trafficking defect of uromodulin mutants was found to be a promising predictor of the age of ESKD. Conclusion: We report the clinical characteristics associated with 125 UMOD mutations. Male gender and a new in vitro score predict age of ESKD.
Department of Clinical and Biological Sciences University of Turin Turin Italy
Department of Internal Medicine Academic Teaching Hospital Feldkirch Feldkirch Austria
Department of Nephrology and Gastroenterology Heim Pál Hospital for Children Budapest Hungary
Department of Nephrology Klinikum rechts der Isar Technical University of Munich Munich Germany
Department of Renal Medicine University College London London UK
Division of Nephrology Washington University in St Louis School of Medicine St Louis Missouri USA
Foundation for Biomedical Research of La Paz University Hospital Madrid Spain
Medical Genetics Department of Medical Sciences University of Turin Turin Italy
Section on Nephrology Wake Forest School of Medicine Winston Salem North Carolina USA
University of Zurich Institute of Mechanisms of Inherited Kidney Disorders Zurich Switzerland
Citace poskytuje Crossref.org
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- $a Kidd, Kendrah $u Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, North Carolina, USA. Research Unit of Rare Diseases, Department of Pediatric and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
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- $a Introduction: Autosomal dominant tubulo-interstitial kidney disease due to UMOD mutations (ADTKD-UMOD) is a rare condition associated with high variability in the age of end-stage kidney disease (ESKD). The minor allele of rs4293393, located in the promoter of the UMOD gene, is present in 19% of the population and downregulates uromodulin production by approximately 50% and might affect the age of ESKD. The goal of this study was to better understand the genetic and clinical characteristics of ADTKD-UMOD and to perform a Mendelian randomization study to determine if the minor allele of rs4293393 was associated with better kidney survival. Methods: An international group of collaborators collected clinical and genetic data on 722 affected individuals from 249 families with 125 mutations, including 28 new mutations. The median age of ESKD was 47 years. Men were at a much higher risk of progression to ESKD (hazard ratio 1.78, P < 0.001). Results: The allele frequency of the minor rs4293393 allele was only 11.6% versus the 19% expected (P < 0.01), resulting in Hardy-Weinberg disequilibrium and precluding a Mendelian randomization experiment. An in vitro score reflecting the severity of the trafficking defect of uromodulin mutants was found to be a promising predictor of the age of ESKD. Conclusion: We report the clinical characteristics associated with 125 UMOD mutations. Male gender and a new in vitro score predict age of ESKD.
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