Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis.
Anderson-Fabry disease is a rare inborn X-linked glycosphingolipid storage disorder in which the deficient activity of the enzyme alfa-galactosidase A (alfa-gal A) leads to the progressive tissular accumulation of lipidic molecules which, in turn, cause a protean pattern of multi-organ disfunction. Enzyme replacement therapy has recently become available and has proved to be effective in controlling the disorder. We present and discuss the case of a family with this disease, with special attention to the variability of clinical features and the difficulty of a correct diagnosis.
Amico
Luisa
L
Operative Unit of Nephrology and Dialysis, V. Cervello Hospital, Palermo - Italy.
Visconti
Giuseppe
G
Amato
Antonio
A
Azzolina
Vitalba
V
Sessa
Adalberto
A
Li Vecchi
Maurizio
M
D000293:Adolescent; D001706:Biopsy; D003937:Diagnosis, Differential; D004452:Echocardiography; D004562:Electrocardiography; D000795:Fabry Disease / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics; D006801:Humans; D007527:Isoenzymes / Q000627:therapeutic use; D008297:Male; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D000519:alpha-Galactosidase / Q000627:therapeutic use
D007527:Isoenzymes; D000519:alpha-Galactosidase; C459420:agalsidase beta