Fabry Disease: A Disorder of Childhood Onset

摘要: Abstract Background Fabry disease, an X-linked disorder of glycosphingolipids, markedly increases the risk systemic vasculopathy, ischemic stroke, small-fiber peripheral neuropathy, cardiac dysfunction, and chronic kidney disease. Methods We performed extensive PubMed search on topic disease drew from our cumulative 43 years experience. Results Most these complications are nonspecific in nature clinically indistinguishable similar abnormalities that occur context more common disorders general population. This is caused by variants GLA gene, its incidence may have been underestimated. However, one must also guard against overdiagnosis unjustified enzyme replacement therapy, because some gene benign. Specific therapy for has developed last few years, but clinical effect modest. Novel therapeutic agents being developed. Standard "nonspecific" medical surgical necessary effective slowing deterioration or compensating organ failure patients with Conclusions a treatable modifiable genetic factor myriad complications. be frequently overlooked occasion overdiagnosed.