16 KB146 KB15 KB199220252005Desnick, Robert J.Kotnik, FrancKotnik, Jožicaštevilka:1letnik:14str. 15-19ISSN:1318-4458COBISSID:19248601URN:URN:NBN:SI:doc-390N2985enSlovene Welding SocietyActa dermatovenerologica Alpina, Pannonica et AdriaticaAlfa-galaktozidazaAlpha-GalactosidaseAngiokeratomAngiokeratomaangiokeratomiDeficiencydermatologijaDiagnosisFabry'S DiseaseFatal Outcomekožne bolezniMiddle AgeSmrtni izidSrednja letaTherapyzdravljenjeFabry disease| a case report|Fabry disease is an under-recognized X-linked recessive lysosomal storage disorder resulting from the deficient activity of the enzyme a-galactosidase A(a-Gal A). The first case of Fabry disease in Slovenia was diagnosed in 1991.This 46 year-old male was referred for dermatologic evaluation of a purpura on his abdomen. He was being treated for proteinuria and cardiac symptoms. The diagnosis of angiokeratoma corporis diffusm (Fabry disease) was made clinically and confirmed by demonstration of deficient leukocyte a-Gal A activity. The patient subsequently developed cerebrovascular symptoms, coronary disease, and renal failure, and died from a recurrent myocardial infarction. Family studies identified several other affected males and carrierfemale relatives with this X-linked recessive disorder. This case illustrates the typical multi-manifestations of this inherited disease which now can be safely and effectively treated by enzyme replacement therapy. Earlydiagnosis is important for the most effective treatment of this diseaseTEXTznanstveno časopisjejournalsSlovenian National E-content AggregatorNational and University Library of SloveniaZdruženje slovenskih dermatovenerologov