Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations.
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Kidd Kendrah, Vylet'al Petr, Schaeffer Céline, Olinger Eric, Živná Martina, Hodaňová Kateřina, Robins Victoria, Johnson Emily, Taylor Abbigail, Martin Lauren, Izzi Claudia, Jorge Sofia C, Calado Joaquim, Torres Rosa J, Lhotta Karl, Steubl Dominik, Gale Daniel P, Gast Christine, Gombos Eva, Ainsworth Hannah C, Chen Ying Maggie, Almeida Jorge Reis, de Souza Cintia Fernandes, Silveira Catarina, Raposeiro Rita, Weller Nelson, Conlon Peter J, Murray Susan L, Benson Katherine A, Cavalleri Gianpiero L, Votruba Miroslav, Vrbacká Alena, Amoroso Antonio, Gianchino Daniela, Caridi Gianluca, Ghiggeri Gian Marco, Divers Jasmin, Scolari Francesco, Devuyst Olivier, Rampoldi Luca, Kmoch Stanislav, Bleyer Anthony J
Аннотация
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.