[Fabry's disease--late diagnosis in men with chronic nephropathy and skin changes].
We report a case of Fabry's disease, diagnosed in a 39-year-old patient treated for 4 years because of glomerulonephritis. The disease manifested itself by the presence of typical petechiae-like skin lesions in the bathing trunk area (angiokeratoma), eye changes, paresthesia, and--in additional investigations--mild proteinuria, lowered creatinine clearance, along with changes in the central nervous system. A biopsy of the kidney revealed the presence of foamy cells in all glomeruli, and in electron microscopy multilamellar bodies (zebra bodies). The diagnose of the disease was confirmed by a marked decrease in leucocyte alpha-galactosidase activity. An early diagnosis of non-inflammatory character of Fabry's disease allows to avoid an unnecessary immunosuppressive treatment.
Wegrzyn
W
W
II Katedra Chorób Wewnetrznych Collegium Medicum UJ w Krakowie.
Undas
A
A
Motyl
R
R
Urbanik
A
A
Dropiński
J
J
Ryś
D
D
Musiał
J
J
D000328:Adult; D000794:Angiokeratoma / Q000209:etiology; D001706:Biopsy; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis*; D005487:Foam Cells / Q000648:ultrastructure; D005921:Glomerulonephritis / Q000209:etiology; D006801:Humans; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D010292:Paresthesia / Q000209:etiology