Fabry Disease
Lysosomal storage disorder with multi-organ kidney involvement.
What it is
An X-linked deficiency of alpha-galactosidase A leading to Gb3 accumulation and progressive organ damage.
Prevalence
Rare and frequently underdiagnosed; pediatric prevalence not well defined.
Symptoms to watch
Angiokeratomas, decreased sweating, neuropathic pain, GI issues, cloudy vision, hearing loss or tinnitus.
Treatment options
Enzyme replacement therapy (Fabrazyme®, Elfabrio®), oral chaperone therapy (migalastat) for specific mutations, diet support, and symptom-based management.
