AJKD atlas of renal pathology: Fabry nephropathy

B Najafian, AB Fogo, MA Lusco, CE Alpers - American Journal of Kidney …, 2015 - ajkd.org
Clinical manifestations are heterogeneous. Classic cases present with peripheral
neuropathy, skin vascular dilatations (angiokeratoma corporis diffusum), corneal opacities,
abdominal pain and diarrhea, arrhythmias, ventricular hypertrophy, strokes, and kidney
failure. The initial clinical manifestations of kidney involvement are microalbuminuria and
proteinuria, which may start in the teenage years. This is followed by progressive glomerular
filtration rate decline. Untreated patients (especially men) develop end-stage renal disease …