SúhrnWilsonova choroba (WCH) patrí medzi autozomálne recesívne dedičné metabolické ochorenia s mutáciou génu ATP7B na 13. chromozóme. Dôležitú úlohu pri WCH zohráva enzým ATPáza, ktorej hlavnou funkciou je vylučovanie medi do žlče. Tento gén sprostredkováva ATPázu modifikujúcu apoceruloplazmín. Pri tomto ochorení dochádza k nedostatočnému vylučovaniu medi z organizmu, a teda k jej hromadeniu v ľudskom organizme. Meď sa akumuluje predominantne v orgánoch ako je pečeň a mozog, čo môže zapríčiniť poruchu funkcie daného orgánu. Podľa toho, ktoré príznaky prevládajú, rozdeľujeme WCH chorobu na formu neurologickú, často spätú s formou psychiatrickou, hepatálnu a inú. Najčastejšie sa symptómy WCH prejavia v období 15.-25. roku života, v závislosti na klinickej forme. Hepatálna sa často objaví skôr, naopak neurologická forma sa môže prejaviť neskôr. V našom článku prezentujeme kazuistiku 45-ročnej pacientky s atypickým priebehom WCH, ktorej diagnostika bola zdĺhavá a mala interdisciplinárny charakter. Kľúčové slová: diagnostika -genetika -meď -mozog -panda -pečeň -Wilsonova choroba Unusual history of Wilson disease: a case report and review of the literature SummaryWilson disease (WD) belongs to autosomal recessive genetic metabolic disorders with gene mutation ATP7B located on 13 th chromosome. The enzyme ATPase plays an important role in WD. It facilitates excretion of copper into bile. This gene is responsible for modification of apoceruloplasmin. In this disease, it leads to insufficient release of copper from organism and accumulation of copper in organs such as liver, brain which can cause dysfunction of a certain organ. According to specific symptoms, we can divide WD into psychiatric, neurologic or hepatic form. The WD usually manifests between 15 and 25 years of age. Hepatic form often occurs sooner, on the contrary, the neurological variant usually occur during the later stages. We present a case report of 45-years-old woman with atypical medical history of WD, in which the diagnostic process was very long and had interdisciplinary character.
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