Jerkic Silvija, Rosewich Hendrik, Scharf Jens-Gerd, Perske Christina, Füzesi Laszlo, Wilichowski Ekkehard, Gärtner Jutta
Department of Paediatrics and Paediatric Neurology, Georg August University, Faculty of Medicine, Robert-Koch-Strasse 40, 37075 Göttingen, Germany.
Eur J Pediatr. 2005 May;164(5):306-10. doi: 10.1007/s00431-004-1602-y. Epub 2005 Feb 22.
Familial adenomatous polyposis (FAP) is an autosomal dominant disorder that characteristically presents with colon cancer in early adult life. We describe a Pakistani FAP family in which two sons had an unusually early manifestation of colorectal cancer. The index patient presented at 11 years of age with abdominal pain, rectal bleeding and iron deficiency anaemia. Colonoscopy showed that the colon was carpeted with a myriad of polyps. Oesophago-gastric and duodenal endoscopy revealed that polyps had also developed in the duodenum. Multiple biopsies indicated neoplastic lesions. The patient underwent a proctocolectomy and endoscopic duodenal mucosectomy. The diagnosis of an adenocarcinoma of the colon and further adenomatous polyps with low-grade and high-grade dysplasia was confirmed by histology. Family screening including a blood test for anaemia and bowel examination revealed that his 12-year-old brother was also affected.
Children with familial adenomatous polyposis are at risk for colon cancer and emphasise the need for early tumour recognition. Gastrointestinal symptoms in children should be thoroughly evaluated and standard screening for colonic polyposis should be performed in all individuals with a positive family history and/or known mutations in cancer-associated genes, particularly in children who are under 10 years of age.
家族性腺瘤性息肉病（FAP）是一种常染色体显性疾病，其特征是在成年早期出现结肠癌。我们描述了一个巴基斯坦FAP家族，其中两个儿子出现了异常早发的结直肠癌。索引患者11岁时出现腹痛、直肠出血和缺铁性贫血。结肠镜检查显示结肠布满了无数息肉。食管胃十二指肠内镜检查显示十二指肠也出现了息肉。多次活检显示为肿瘤性病变。该患者接受了直肠结肠切除术和内镜下十二指肠黏膜切除术。组织学证实为结肠癌以及进一步的腺瘤性息肉伴低级别和高级别发育异常。家族筛查包括贫血血液检查和肠道检查，结果显示他12岁的弟弟也受到了影响。
家族性腺瘤性息肉病患儿有患结肠癌的风险，这强调了早期肿瘤识别的必要性。对于儿童的胃肠道症状应进行全面评估，对于所有有家族史阳性和/或癌症相关基因已知突变的个体，尤其是10岁以下儿童，应进行结肠息肉病的标准筛查。
