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要旨 家族性大腸腺腫症(FAP)は,①常染色体性の優性遺伝を示す,①大腸にびまん性の腺腫(通常,数百~数千個)が発生する,①放置すれば大腸癌を合併する,といった特徴像を示す.また,①その原因遺伝子が5番目の染色体の長腕(5q21~22)にあることが判明し,1991年に単離され,APC遺伝子と名付けられた.本稿では,まず,この疾患における研究の歴史,特に,わが国でなしえた上部消化管や顎骨病の病変,FAPとGardner症候群との異同に関する研究成果を述べた.次いで臨床研究から明らかにしえた本症の病態と本質について,最近の知見を報告した.更に,今後,急速な進歩が期待される本症の遺伝子学的研究の課題について,臨床の立場から述べた.
Familial adenomatous polyposis (FAP) is characterized as follows; 1) it is inherited in an autosomal dominance, 2) usually several hundreds or more than thousands adenomatous polyps carpet the colon and rectum, 3) almost all patients with FAP develop carcinoma of the colon if the colon has not been removed, 4) the causative gene being located on the long arm of the fifth chromosome (5p21-22) was isolated in 1991 and was named the APC gene. We describe the history of its research, especially focus on the Japanese studies on the lesions in the upper gastrointestinal tract and mandible, and the difference between FAP and Gardner's syndrome. Then, recent advances in clinical study which have disclosed the nature and pathophysiology of this disease are reported. Furthemore, from the clinical points of view, we mention the subject of its genetic study which is expected to make rapid progress in the future.
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