Author/Editor     Čeh, M; Perković, T; Hvala, A; Jaki, P; Luzar, B; Ferluga, D
Title     Fabryjeva bolezen - prikaz dveh primerov
Type     članek
Source     In: Lindič J, Kaplan-Pavlovčič S, editors. Zbornik prispevkov 1. slovenski nefrološki kongres z mednarodno udeležbo; 1996 okt 23-26; Portorož. Ljubljana: Klinični center, Nefrološka klinika,
Publication year     2000
Volume     str. 48-51
Language     slo
Abstract     Fabry's disease is a sex-linked recessive disorder resulting from the deficient activity of the lysosomal hydrolase alpha-galactosidase A. The enzymatic defect results in progressive accumulation of neutral glycosphingolipids in the lysosomes of vascular endotelial and other cells throughout the body. Clinically the disease is characterized by cutaneous anagiokeratoma's and severe pain in the limbs from the second decade, followed by progressive renal insufficiency and cardiovascular and cerebrovascular damage in the third of fourth decade. Female carries for the disease have most frequently only ocular signs. Two patients are presented. In both of them clinical examination, laboratory tests, skin biopsy, ophtalmic examination and the determination of alpha-galactosidase A level were performed for the confirmation the diagnosis of Fabry's disease. Ophthalmologic examination and alpha-galactosidase A level determination were used for the recognition of carriers of the disease. Fabry's disease is not curable now but the early diagnosis is important for a vocational counseling, the identification of carriers and genetic counseling.
Descriptors     FABRY'S DISEASE