Author/Editor		Verovnik, Franc
Title		Klinični potek in zdravljenje Fabryjeve bolezni pri treh bolnikih pred uvedbo nadomestnega encimskega zdravljenja
Translated title		Clinical course and management of Fabry disease in three patients before the introduction of enzyme replacement therapy
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 75, št. 12
Publication year		2006
Volume		str. 777-81
Language		slo
Abstract		Background Fabry disease (FD) is an X-linked inherited disorder of glycosphingolipids metabolism. Clinical manifestations, the course and the cause of death are markedly different among the patients. Before the use of enzyme replacement therapy patients with FD died early in their life. Methods Following the medical recordings, in this paper the clinical courses and causes of death are described for three patients with FD who died before the introduction of the enzyme replctcement therapy. Results Although three patients were brothers and had the same gene mutation, the clinical manifestations of FD were completly different in each of patient. The first had early neurogical symptoms, the second problems with heart and the third had early deterioration of renal function. They died early despite all possible therapeutic measurements. Conclusions Early recognition of FD is extremely important. Nowadays it is possible to prevent the fatal complications and early death by means of modern effective enzyme replacement therapy.
Summary		Fabryjeva bolezen (FB) je dedna, na spolni kromosom X vezana motnja presnove glikosfingolipidov. Klinični pojavi, razvoj bolezni in vzroki smrti se razlikujejo od bolnika do bolnika. Pred uvedbo nadomestnega encimskega zdravljenja so bolniki zaradi FB zelo zgodaj umirali. Metode Na podlagi podatkov iz medicinske dokumentacije so v članku opisane značilnosti bolezni in zdravljenje treh bolnikov s FB, ki so umrli pred uvedbo nadomestnega encimskega zdravljenja. Rezultati Čeprav so bili bolniki bratje in so imeli enako gensko mutacijo, se je bolezen zelo različno pokazala pri vsakem od njih. Pri enem so prevladovali zgodnji nevrološki simptomi, pri drugem težave s srcem, pri tretjem pa predvsem ledvična odpoved. Kljub vsem možnim načinom zdravljenja so vsi trije sorazmerno zgodaj umrli, neposredni vzroki smrti pa so bili pri vseh treh drugačni. Zaključki Pravočasno prepoznavanje FB je izjemno pomembno. Danes lahko namreč s sodobnim nadomestnim encimskim zdravljenjem učinkovito preprečimo usodne zaplete in prezgodnjo smrt pri tej bolezni.
Descriptors		FABRY'S DISEASE MIDDLE AGE