作者
Eric Olinger, Patrick Hofmann, Kendrah Kidd, Inès Dufour, Hendrica Belge, Céline Schaeffer, Anne Kipp, Olivier Bonny, Constantinos Deltas, Nathalie Demoulin, Thomas Fehr, Daniel G Fuster, Daniel P Gale, Eric Goffin, Kateřina Hodaňová, Uyen Huynh-Do, Andreas Kistler, Johann Morelle, Gregory Papagregoriou, Yves Pirson, Richard Sandford, John A Sayer, Roser Torra, Christina Venzin, Reto Venzin, Bruno Vogt, Martina Živná, Anna Greka, Karin Dahan, Luca Rampoldi, Stanislav Kmoch, Anthony J Bleyer Sr, Olivier Devuyst
发表日期
2020/9/1
期刊
Kidney international
卷号
98
期号
3
页码范围
717-731
出版商
Elsevier
简介
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is an increasingly recognized cause of end-stage kidney disease, primarily due to mutations in UMOD and MUC1. The lack of clinical recognition and the small size of cohorts have slowed the understanding of disease ontology and development of diagnostic algorithms. We analyzed two registries from Europe and the United States to define genetic and clinical characteristics of ADTKD-UMOD and ADTKD-MUC1 and develop a practical score to guide genetic testing. Our study encompassed 726 patients from 585 families with a presumptive diagnosis of ADTKD along with clinical, biochemical, genetic and radiologic data. Collectively, 106 different UMOD mutations were detected in 216/562 (38.4%) of families with ADTKD (303 patients), and 4 different MUC1 mutations in 72/205 (35.1%) of the families that are UMOD-negative (83 patients). The median …
学术搜索中的文章
E Olinger, P Hofmann, K Kidd, I Dufour, H Belge… - Kidney international, 2020