[Intestinal and extraintestinal manifestations in familial adenomatous polyposis].
نویسندگان
چکیده
Familijarna adenomatozna polipoza (FAP) je autozomno dominantni polipozni sindrom, odgovoran za pojavu oko 1% svih kolorektalnih karcinoma (CRC) . Ovaj sindrom se ispoljava kod 1/5 000 do 1/17 000 živorođene dece 2, 3 sa stopom penetracije od preko 90% . Zahvata podjednako oba pola i sve geografske lokalitete . Obolele osobe razvijaju 100−5 000 adenoma (prosečan broj adenoma > 1 000) tubularne strukture, uglavnom prečnika manjeg od 1 cm, sa lokalizacijom u svim segmentima debelog creva . Jedan ili više adenoma neizostavno progrediraju do CRC ukoliko se bolesnici ne podvrgnu profilaktičkoj kolektomiji. Većina bolesnika sa FAP razvija stotine adenoma do 16. godine života . Kod nelečenih bolesnika razvija se CRC prosečno u 39. godini sa smrtnim ishodom do 42. godine . Do 40. godine života otkrije se preko 90% CRC kod bolesnika sa FAP-om . Poznate su tri varijante FAP: Gardnerov sindrom, Turcotov sindrom i sindrom umanjene FAP . Familijarna adenomatozna polipoza je uzrokovana klicinom (germline) mutacijom adenomatosis polyposis coli (APC) gena koji je mapiran na dugom kraku hromozoma 5 u poziciji 5q21 11, . Gen APC je tumor-supresorni gen ili gen „vratar“ (gatekeeper) sa 15 eksona. Lokalizovan je prvi put 1987. godine, a kloniran 1991. godine. Gen APC je multifaktorski protein uključen u složene procese transdukcije, apoptoze, regulacije ćelijskog ciklusa i adhezije ćelija . U literaturi je prikazano više od 300 mutacija APC gena, koje su odgovorne za različito fenotipsko ispoljavanje bolesti, odnosno za pojavu ekstraintestinalnih manifestacija bolesti 14, . Kod bolesnika sa FAP mogu se otkriti benigni i maligni tumori želuca i duodenuma, dezmoidni tumori, osteomi, fibromi, epidermoidne ciste, kongenitalna hipertrofija pigmentnog epitela retine (CHPER), adenomi nadbubrega, holangiokarcinom, hepatoblastom, karcinom tiroidne žlezde, tumori centralnog nervnog sistema . U našem radu opisani su tumori želuca, tankog creva, dezmoidni tumori i CHPER, sa svojim specifičnostima.
منابع مشابه
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ورودعنوان ژورنال:
- Vojnosanitetski pregled
دوره 64 7 شماره
صفحات -
تاریخ انتشار 2007