Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
105 Citations•2021•
Mónica Furlano, Víctor Martínez, Marc Pybus
ADAS patients have a wide spectrum clinical presentations ranging from asymptomatic to kidney failure, a pattern not clearly related to the causative gene or type of variant.
Abstract
Patients with ADAS have a wide spectrum of clinical presentations, ranging from asymptomatic to kidney failure, a pattern not clearly related to the causative gene or type of variant. The diversity of ADAS phenotypes contributes to its underdiagnosis in clinical practice.