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Anderson-Fabry Disease: Developments in Diagnosis and Treatment

Vanja Bašić Kes
Marijan Cesarik
Iris Zavoreo
Zrinko Madžar
Vida Demarin

Sažetak

Fabry disease (Anderson-Fabry disease) is an X-linked recessive lysosomal storage disorder resulting from deficient activity of lysosomal hydrolase, α-galactosidase A (α-Gal A), which leads to progressive accumulation of globotriaosylceramide (Gb3) in various cells, predominantly endothelial and vascular smooth muscle cells, with clinical manifestations affecting major organs including the central nervous system. The incidence has been estimated to 1 per 40,000-60,000 males and 1 per 117,000 in the general population. Symptoms usually occur during childhood or adolescence, occasionally in middle age (according to the level of the enzyme activity). Life-threatening complications often develop in untreated patients. In classic Fabry disease, they include cutaneous, renal, cardiac and cerebrovascular manifestations that lead to premature death. Early recognition of symptoms, enzyme activity levels, concentration of Gb3 levels in the blood, urine and skin biopsies, as well as genetic testing (GLA gene) enable establishment of early diagnosis and therapeutic intervention with enzyme replacement therapy. Early therapy initiation prior to significant disease manifestations or complications may improve patient outcome.

Ključne riječi

Anderson-Fabry disease; diagnosis; therapy

Hrčak ID:

107088

URI

https://hrcak.srce.hr/107088

Datum izdavanja:

1.10.2012.

Podaci na drugim jezicima: hrvatski

Posjeta: 2.101 *