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Titel:

Renal and Skeletal Anomalies in a Cohort of Individuals With Clinically Presumed Hereditary Nephropathy Analyzed by Molecular Genetic Testing.

Dokumenttyp:
Journal Article
Autor(en):
Stippel, Michaela; Riedhammer, Korbinian M; Lange-Sperandio, Bärbel; Geßner, Michaela; Braunisch, Matthias C; Günthner, Roman; Bald, Martin; Schmidts, Miriam; Strotmann, Peter; Tasic, Velibor; Schmaderer, Christoph; Renders, Lutz; Heemann, Uwe; Hoefele, Julia
Abstract:
Background: Chronic kidney disease (CKD) in childhood and adolescence occurs with a median incidence of 9 per million of the age-related population. Over 70% of CKD cases under the age of 25 years can be attributed to a hereditary kidney disease. Among these are hereditary podocytopathies, ciliopathies and (monogenic) congenital anomalies of the kidney and urinary tract (CAKUT). These disease entities can present with a vast variety of extrarenal manifestations. So far, skeletal anomalies (SA) h...     »
Zeitschriftentitel:
Front Genet
Jahr:
2021
Band / Volume:
12
Volltext / DOI:
doi:10.3389/fgene.2021.642849
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/34122504
Print-ISSN:
1664-8021
TUM Einrichtung:
611; Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik; Klinik und Poliklinik für Kinder- und Jugendmedizin
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