Publications
Genetics in medicine : official journal of the American College of Medical GeneticsMar 2021 DOI:
10.1038/s41436-021-01127-8

The underestimated burden of monogenic kidney disease in adults waitlisted for kidney transplantation

Schrezenmeier, Eva; Kremerskothen, Elisa; Halleck, Fabian; Staeck, Oliver; Liefeldt, Lutz; Choi, Mira; Schüler, Markus; Weber, Ulrike; Bachmann, Nadine; Grohmann, Maik; Wagner, Timo; Budde, Klemens; Bergmann, Carsten
Product Used
NGS
Abstract
Chronic kidney disease (CKD) is a major health-care burden. Increasing evidence suggests that a considerable proportion of patients are affected by a monogenic kidney disorder. In this study, the kidney transplantation waiting list at the Charité was screened for patients with undetermined cause of CKD. By next-generation sequencing (NGS) we targeted all 600 genes described and associated with kidney disease or allied disorders. In total, 635 patients were investigated. Of these, 245 individuals had a known cause of CKD (38.5%) of which 119 had a proven genetic disease (e.g., ADPKD, Alport). The other 340 patients (53.5%) were classified as undetermined diagnosis, of whom 87 had kidney failure (KF) onset
Product Used
NGS

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