十二指腸多発腺腫を契機に発見された家族性大腸腺腫症の1例

Familial Adenomatosis Coli Initially Detected by Multiple Duodenal Adenomas, Report of a Case

要旨　患者は20歳，女性．左季肋部痛を訴え来院．上部消化管X線検査で，十二指腸球後部を中心に多数の小隆起を認め，内視鏡下生検で管状腺腫と診断した．そこで，家族性大腸腺腫症（FAC）を疑い全身の検索を行った．その結果，潜在性骨腫を伴うFACと診断され，22歳時に結腸全摘術を施行した．現在まで約13年の経過観察中，22歳時に十二指腸乳頭部粘膜から腺腫，23歳時に胃前庭部の2個のびらん様陥凹から腺腫の組織像が確認された．FACにおける上部消化管病変の頻度は高率であり，本症の重要な診断指標となりうる．最近，本症における上部消化管癌の発生が問題とされており，文献的考察のうえ報告する．

　A 20-year-old woman was admitted to our hospital because routine x-ray films disclosed multiple small polypoid lesions in the upper duodenum, which were confirmed as tubular adenomas through endoscopic biopsy specimens. Further examinations revealed adenomatosis of the colon, occult bone tumors, a fibroadenoma of the breast, ampullary adenoma (almost normal looking papilla on ndoscopy), and gastric adenomas (tiny erosions on endoscopy). She was diagnosed as having familial adenomatosis coli, and underwent total colectomy at the age of 22 years. No cancerous focus was recognized in the resected specimen. During the follow-up period of 13 years, gastrointestinal lesions showed no remarkable change.