Article
Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study.
BMC nephrology - 18 Dec 2024
Kidd Kendrah O, Williams Adrienne H, Taylor Abbigail, Martin Lauren, Robins Victoria, Sayer John A, Olinger Eric, Mabillard Holly R, Papagregoriou Gregory, Deltas Constantinos, Stavrou Christoforos, Conlon Peter J, Hogan Richard Edmund, Elhassan Elhussein A E, Springer Drahomíra, Zima Tomáš, Izzi Claudia, Vrbacká Alena, Piherová Lenka, Pohludka Michal, Radina Martin, Vylet'al Petr, Hodanova Katerina, Zivna Martina, Kmoch Stanislav, Bleyer Anthony J
Abstract excerpt
BACKGROUND: MUC1 and UMOD pathogenic variants cause autosomal dominant tubulointerstitial kidney disease (ADTKD). MUC1 is expressed in kidney, nasal mucosa and respiratory tract, while UMOD is expressed only in kidney. Due to haplo-insufficiency ADTKD-MUC1 patients produce approximately 50% of normal mucin-1. METHODS: To determine whether decreased mucin-1 production was associated with an increased COVID-19...
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