Update on Fabry disease: kidney involvement, renal progression and enzyme replacement therapy.

摘要: Fabry disease is an X-linked lysosomal storage disorder which caused by a deficiency of the enzyme alpha-galactosidase A. The lack causes progressive intracellular accumulation glycosphingolipids, mainly globotriaosylceramide (GL3). Affected organs are, among others, vascular endothelium, heart, brain and kidneys, as well central peripheral nervous system. With approval replacement therapy (ERT) in 2001, specific treatment approach was opened for first time. Randomized placebo-controlled trials have shown safety efficacy ERT with improvement clinical symptoms microvascular endothelial cell clearance. Long-term outcomes patients severe organ manifestations, particular proteinuria renal function impairment, are still critical warrant further investigation. Besides being optimized adjunctive therapy, timely initiation important to assure optimal medical care. Subsequent follow-up assessments should be carried out all on regular basis evaluate outcomes.