Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8952332 | American Journal of Kidney Diseases | 2018 | 8 Pages |
Abstract
The main genetic cause of ADTKD in our Spanish cohort is the MUC1 pathogenic mutation c.(428)dupC. Renal survival may be worse in individuals with the MUC1 mutation than in those with UMOD mutations. Clinical presentation does not permit distinguishing between these variants. However, hyperuricemia and gout are more frequent in individuals with ADTKD-UMOD.
Keywords
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Authors
Nadia Ayasreh, Gemma Bullich, Rosa Miquel, Mónica Furlano, Patricia Ruiz, Laura Lorente, Oliver Valero, Miguel Angel GarcÃa-González, Nisrine Arhda, Intza Garin, VÃctor MartÃnez, Vanessa Pérez-Gómez, Xavier Fulladosa, David Arroyo,