Si-Rui Lu

Case Report: Concurrent Fabry disease, IgA nephropathy and undifferentiated connective tissue disease in a female with normal enzyme activity

Rationale The diagnosis of Fabry disease (FD) in heterozygous females remains clinically challenging, as random X-chromosome inactivation frequently leads to preserved α-galactosidase A (α-Gal A) activity and absence of classic clinical stigmata. While concurrent FD and IgA nephropathy (IgAN) is a rare comorbidity pred...