Polycystic kidney disease complicates renal pathology in a family with Fabry disease

Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation than the cysts associated with Fabry disease. We...

Full description

Bibliographic Details
Main Authors: Leepakshi Johar, Grace Lee, Angela Martin-Rios, Kathy Hall, Cheng Cheng, Dawn Lombardo, Madeleine Pahl, Virginia Kimonis
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426922000945