Author/Editor		Verovnik, Franc
Title		Fabryjeva bolezen - pomankanje alfa-galaktozidaze A - problem različnih vej medicine
Translated title		Fabry's disease: alpha-galactosidase A deficiency - multidisciplinary disorder
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 69, št. 5
Publication year		2000
Volume		str. 339-44
Language		slo
Abstract		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 cause death 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.
Summary		Izhodišča. Fabryjeva bolezen je bila prvič opisana pred več kot sto leti. Gre za dedno motnjo presnove glikosfingolipidov, dedovanje je vezano na kromosom X, posledica pa je okvarjena aktivnost lizosomskega encima hidrolaze alfa galaktozidaze A v tkivih in telesnih tekočinah pri obolelih hemizigotnih moških. Zaradi okvare se glikosfingolipidi kopičijo v telesnih tekočinah in lizosomih endotelijskih in gladkomišičnih celic krvnih žil, v ganglijskih celicah ter v različnih celicah v srcu, ledvicah, očeh in mnogih drugih tkivih. Klinični pojavi se pokažejo že v mladosti v obliki angiokeratomov in akroparestezij. Pri štiridesetih se pojavijo okvare ledvic, spremembe na očeh ter pojavi na srcu in možganih, kar je lahko vzrok za smrt pri petdesetih. Bolezen prepoznamo običajno šele, ko so že razviti vsi znaki in simptomi, ki so posledica okvare različnih organov. Potrditev klinične diagnoze in zdravljenje bolezni je možno le s sodelovanjem več vej medicine. Metode. V članku je opisanih šest bolnikov s Fabryjevo boleznijo iz dveh generacij iste rodbine. Bolezen je bila slučajno odkrita pri enem od njih, ker je imel nenavadne spremembe na koži. Prikazani so potek bolezni pri vseh bolnikih ter načini prepoznavanja in zdravljenja te bolezni. Zaključki. Fabryjeva bolezen je redka in jo lahko prepoznamo z genetskimi, histološkimi in biokemičnimi preiskavami. Sedanje zdravljenje je še pretežno simptomatsko, vendar se v prihodnosti obetajo novi načini zdravljenja, kot sta nadomeščanje encimov in gensko zdravljenje. Zato je zelo pomembno zgodnje odkrivanje Fabryjeve bolezni.
Descriptors		FABRY'S DISEASE ALPHA-GALACTOSIDASE PEDIGREE