[Current management of Fabry disease].
Fabry disease is a rare X-linked lysosomal storage disease leading to systemic involvement, mainly through GL-3 endothelial deposition. Initial symptoms may occur during childhood (acroparesthesia, angiokeratoma), prior to adulthood complications, i.e. renal, ocular, cerebral, neurological and cardiovascular involvement. An early diagnosis of the disease may be challenging because of a frequent atypical clinical presentation. Indeed, independent of conservative treatment (pain, proteinuria, chronic renal failure, arterial hypertension, heart failure, etc), enzyme therapy using recombinant alpha-galactosidase (agalsidase) has provided a safe pathophysiological approach, leading to significant organ functional improvement (mainly kidney and heart) and improved quality of life, which parallels tissue GL-3 clearance. Such a treatment is safe and efficient but its biweekly intravenous administration is still uncomfortable, so that further alternative therapeutic approaches may be encouraged.
Cochat
Pierre
P
Centre de référence des maladies rénales héréditaires, hôpital Edouard-Herriot, Lyon, France. pierre.cochat@chu-lyon.fr
Liutkus
Aurélia
A
Dubourg
Laurence
L
Levade
Thierry
T
D004791:Enzyme Inhibitors / Q000627:therapeutic use; D000795:Fabry Disease / Q000235:genetics / Q000628:therapy*; D015316:Genetic Therapy; D005962:Glucosylceramidase / Q000037:antagonists & inhibitors; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology / Q000235:genetics / Q000628:therapy; D011994:Recombinant Proteins / Q000627:therapeutic use; D000519:alpha-Galactosidase / Q000627:therapeutic use*
D004791:Enzyme Inhibitors; D011994:Recombinant Proteins; D000519:alpha-Galactosidase; D005962:Glucosylceramidase