Progress in Diagnosis and Treatment of Children having Fabry Disease / 罕见病研究

ABSTRACT

Fabry disease (FD) is a rare progressive X-linked genetic lysosomal storage disorder. Mutations of the GLA gene result in deficiency of α-galactosidase (α-Gal A), and the accumulation of glycosphingolipids, particularly globotriaosylceramide (GL-3) and derivatives deacylated derivative globotriaosylsphingosine (Lyso-GL-3) in multiple tissues of the body systems, eventually leading to lesions in multiple organs. The symptoms commonly seen in childhood include neuropathic pain, gastrointestinal dysfunction, angiokeratoma and cornea verticillata, and others. The fact that early symptoms are not specific usually causes the delay in diagnosis of Fabry disease. Making definite diagnosis needs to involve the activity of α-Gal A, GL-3, Lyso-GL-3, biomarkers, pathology and genetic tests. The early start of treatment using enzyme replacement therapy (ERT) is effective in alleviating the signs and symptoms of Fabry disease and in preventing disease progression.