자연 발생적 가족성 선종성 용종증 1예 = One Case of Sporadic Familial Adenomatous polyposis

다국어 초록 (Multilingual Abstract)

Familial adenomatous polyposis(FAP) is defined as the presence of 100 or more adenomatous polyps in the large intestine. In addition to colon polyp, the upper gastrointestinal polyps and several extracolonic manifestations are often seen. Therefore, it is recognized as adenomatous polyposis syndrome which can involve the entire gastrointestinal tract. It is characterized by autosomal dominant mode of inheritance with high penentration( 〉90%), but sporadic cases without family history have been reported in up to one-thirds of patients.
Since the risk of colorectal cancer in untreated FAP is virtually 100%, early diagnosis of colonic polyps and appropriate surgical intervention is of utmost importance. The choice of surgical procedure is controversial, but the introduction of total proctocolectomy with ileal pouch-anal anastomosis can be considered as a major advance in surgical treatment of FAP during the last decade.
We experienced a sporadic case without familial history of facilial adenomatous polyposis who had multiple adenomatous polyps with several large pedunculated polyps on colorectum. He was early treated before progression into colorectal cancer by total colectomy and J pouch ileoanal anastomosis.