Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them confined to individual pedigrees. Two different phenotypes have been recognised. The most frequent or "classical" form involves mainly the vascular endothelium and different tissues, particularly kidney, heart and central nervous system, whilst the second or "atypical" form is primarily limited to the myocardium. Classic symptoms, such as neuropathic pain, febrile episodes, angiokeratoma and ocular abnormalities usually start in the first or second decade of life. the progressive renal, cardiac and cerebrovascular involvement leads to early death. The disease predominantly affects males, but many female carriers also present variable clinical manifestations due to random X inactivation. Diagnosis is usually made in adulthood and hitherto treatment has been mainly symptomatic. Recently recombinant enzyme replacement therapy has become available. Paediatricians' knowledge of the principal clinical symptomatology of this rare disorder is necessary to make an early diagnosis and to start treatment as soon as possible, thus avoiding irreversible organ damage. The complexity of this disease needs a multidisciplinary approach and close monitoring of the clinical efficacy of the treatment.
|Translated title of the contribution||Anderson-Fabry's disease in paediatric age|
|Number of pages||5|
|Journal||Medico e Bambino|
|Publication status||Published - May 31 2003|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health