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  • Fabryjeva bolezen - pomanjkanje [alfa]-galaktozidaze A - problem različnih vej medicine = Fabry's disease: [alpha]-galactosidase A deficiency - multidisciplinary disorder
    Verovnik, Franc
    Background. More than 100 years have elapsed since the first descriptions of Fabry's disease. It is an X-chromosome linked inborn error of glycosphingolipid metabolism resulting from the deficient ... activity of the lysosomal enzyme hydrolase alpha galactosidase A in tissues and fluids of affected hemizygous males. This defect leads to the systemic accumulation of glycosphingolipids in body fluids and in the lysosomes of endothelial and smooth-muscle cells of blood vessels, in ganglion cells, and in many cell types in the heart, kidneys, eyes, and most other tissues. Clinical manifestations begin in adolescence with angiokeratomas and acroparesthesias. By the fourth decade, renal involvement occurs along with ocular abnormalities, cardiac and cerebrovascular manifestations, which may all causedeath by the fifth decade. Usually diagnosis is made when the signs and symptoms of the disease are fully developed resulting from the affection of different organ systems. The confirmation of clinical diagnosis and the treatment of the disease are possible only on the basis of the interdisciplinary collaboration. Methods. The purpose of this article is to present six patients with Fabry's disease belonging to two generations of the same family. The disease was diagnosed in one member by accident because of his unusual cutaneous lesions. The clinical courses of all patients are described, diagnostic aspects and treatment are also dealt with. Conclusions. Fabry's disease is a rare disorder which can be diagnosed genetically, histologically and biochemically. Though nowadays treatment is mostly symptomatic, in the future enzyme substitution and gene therapy may be a therapeutic option. Therefore the early recognition of the disease is very important.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Letn. 69, št. 5, maj 2000, str. 339-344)
    Vrsta gradiva - članek, sestavni del
    Leto - 2000
    Jezik - slovenski
    COBISS.SI-ID - 11630297

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