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家族性腺瘤性息肉病(FAP)是一种常染色体显性遗传性疾病,以结肠和直肠存在多量腺瘤性息肉为特征,其数目可达100~5000枚之多。临床虽不多见,但因它最终会发展为腺癌而引起人们的关注。本文报告1974年~1994年间手术治疗的FAP9例,约占同期住院病人的1/23000。男性7例,女性2例,年龄自18岁~38岁,病史自半年至3年,3例有家族病史,多数病人有便血,腹泻,乏力,体重下降等症状,Hb最低的仅40g/L,有1例背部发生表皮样囊肿,1例下颔骨有骨瘤。全组病人均经内镜检查做出诊断。FAP均应手术治疗,本组有7例行结肠全切除、回直肠吻合术,术后恢复良好;1例行结肠全切除、直肠粘膜剥除、回肠肛管吻合术,术后排便仍频,2年后行缩肛术好转;另1例行结肠直肠全切除、回肠永久性造口术,术后恢复不好,生活质量差。本文还对FAP的发病情况、病因和病理学作了讨论。
Familial adenomatous polyposis coli (FAP) is an autosomal dominant genetic disease characterized by the presence of a large number of adenomatous polyps in the colon and rectum, which can amount to as many as 100 to 5000 pieces. Although rare clinical, but because it will eventually develop into adenocarcinoma and cause for concern. This article reports the surgical treatment of FAP9 cases from 1974 to 1994, accounting for about 1 in 23,000 inpatients in the same period. There were 7 males and 2 females, aged from 18 to 38 years old. Their history ranged from half a year to 3 years. Three patients had a family history. Most patients had symptoms such as hematochezia, diarrhea, fatigue and weight loss. The lowest Hg was 40 g / L , 1 case of epidermoid cyst back, 1 case of tarsal osteoma. All patients were diagnosed by endoscopy. FAP should be surgically treated, the group of 7 patients underwent total colon resection, rectal anastomosis, postoperative recovery was good; 1 case of total colon resection, rectal mucosal stripping, ileum anal anastomosis, postoperative defecation frequency, 2 years after the line of shrinking anal surgery improved; the other cases of colorectal resection, permanent ileostomy, postoperative recovery is not good, poor quality of life. This article also discusses the incidence of FAP, etiology and pathology.