GOŠEOVA BOLEST TIP 1 I KARCINOM ŽELUCA: PRIKAZ SLUČAJA
Sažetak
Gošeova (Gaucher) bolest (GB) jeste lipozomalna bolest nakupljanja koja se nasleđuje autozomno-recesivno. U osnovi bolesti nalazi se mutacija gena koji kodira enzim glukocerebrozidazu. Klinička podela GB-a na tip 1, 2 i 3 zasniva se na odsustvu (tip 1) ili prisustvu (tip 2 i tip 3) manifestacija od strane centralnog nervnog sistema. Sa ciljem postavljanja definitivne dijagnoze određuju se nivo β-glukozocerebrozidaze u leukocitima i vrednost hitotriozidaze u serumu. Analiza genotipa od pomoći je u proceni tipa i težine bolesti. Od 1991. godine Gošeova bolest leči se enzimskom supstitucionom terapijom (EST). U ovom radu prikazuju se kliničke karakteristike bolesnice sa tipom 1 Gošeove bolesti kojoj je bolest dijagnostikovana novembra 2004. godine na Insititutu za hematologiju Univerzitetskog kliničkog centra Srbije. Bolesnica je bila heterozigotni nosilac mutacije N307S. Februara 2006. godine započeto je lečenje imiglucerazom (CerezymeR), sa dozom od 30 U po kilogramu telesne težine i. v. na svake dve nedelje. Iako je posle 24 meseca terapije zabeleženo značajno poboljšanje stanja bolesnice, ona se žalila na mučninu, nagon na povraćanje i bolove u epigastrijumu. Urađeni su multidetektorska kompjuterizovana tomografija (engl. multislice computed tomography – MSCT) gornjeg abdomena i ezofagogastroduodenoskopija sa biopsijom promene u želucu. Patohistološki (PH) nalaz promene u želucu ukazao je na postojanje adenokarcinoma želuca. Urađena je totalna gastrektomija sa splenektomijom i holecistektomijom. PH nalaz je pokazao da je posredi adenocarcinoma ventriculi intramucosum (early cancer). Bolesnica je posle hirurške intervencije nastavila enzimsku supstitucionu terapiju imiglucerazom. Kod obolelih od GB-a povećan je rizik od nastanka malignih bolesti, najčešće limfoproliferativnih, mada je opisana i pojava solidnih tumora (npr. hepatocelularni karcinom). Prema našim saznanjima, Gošeova bolest udružena sa karcinomom želuca retko se pominje u literaturi.
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