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 ALPHA-GALACTOSIDASE HETEROZYGOTE DETECTION ADULT MIDDLE AGE