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Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease

Vanja Basić Kes, Marijan Cesarik, Iris Zavoreo, Silva Soldo-Butković, Petar Kes, Nikolina Basić-Jukić, Sanjin Racki, Marko Jakić, Diana Delić-Brkljacić, Zlatica Jukić, Zlatko Trkanjec, Vesna Serić (+8 others)
2013 Acta Clinica Croatica  

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Fabry disease (Anderson-Fabry disease) is one of the most common lysosomal storage diseases (after Gaucher disease) caused by deficient activity of the alpha-galactosidase A (alpha-Gal A) enzyme, which leads to progressive accumulation of globotriaosylceramide in various cells, predominantly in endothelium and vascular smooth muscles, with multisystem clinical manifestations. Estimates of the incidence range from one per 40,000 to 60,000 in males, and 1:117,000 in the general population. Pain
more » ... usually the first symptom and is present in 60%-80% of affected children, as well as gastrointestinal disturbances, ophthalmologic abnormalities and hearing loss. Renal failure, hypertrophic cardiomyopathy, or stroke as the presenting symptom may also be found even as isolated symptoms of the disease. Life expectancy is reduced by approximately 20 years in males and 10-15 years in females, therefore enzyme replacement therapy should be introduced in patients of any age and either sex, who meet treatment criteria for Anderson-Fabry disease.
pmid:24558776 fatcat:v4tvehoo6vbajhci6eeqbukbu4
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Vanja Basić Kes, Marijan Cesarik, Iris Zavoreo, Silva Soldo-Butković, Petar Kes, Nikolina Basić-Jukić, Sanjin Racki, Marko Jakić, Diana Delić-Brkljacić, Zlatica Jukić, Zlatko Trkanjec, Vesna Serić, Vesna Vargek Solter, Ivan Bielen, Silvio Basić, Vida Demarin, Croatian Society for Neurovascular Disorders of Croatian Medical Association, Croatian Society of Neuroimmunology and Neurogenetics, Croatian Society of Neurology of Croatian Medical Association, Croatian Society of Nephrology, Dialysis and Transplantation of Croatian Medical Association. "Guidelines for diagnosis, therapy and follow up of Anderson-Fabry disease." Acta Clinica Croatica 52.3 (2013) 395-405