Grotsky H W, Rickert R R, Smith W D, Newsome J F
Gastroenterology. 1982 Mar;82(3):494-501.
A kindred with familial juvenile polyposis coli is described. Of 92 family members, 26 have had symptoms consistent with polyposis, and a definite diagnosis of polyposis has been made in 19. Two family members have developed colorectal carcinoma before age 40 yr. The lesion of juvenile polyposis is a characteristic nonneoplastic polyp that is distinct from the neoplastic lesion of adenomatous polyposis. Patients with this disorder develop symptoms at an earlier age than those with adenomatous polyposis. Both variants of polyposis appear to have a dominant pattern of inheritance. Patients with juvenile polyposis who present in infancy are likely to have severe symptoms and complications. Although the premalignant potential of the juvenile polyp remains in doubt, there may be an increase risk of gastrointestinal cancer in these patients and their families.
本文描述了一个患有家族性幼年性息肉病的家族。在92名家族成员中，26人有与息肉病相符的症状，其中19人被明确诊断为息肉病。两名家族成员在40岁之前就患上了结肠直肠癌。幼年性息肉病的病变是一种特征性的非肿瘤性息肉，与腺瘤性息肉病的肿瘤性病变不同。患有这种疾病的患者比患有腺瘤性息肉病的患者出现症状的年龄更早。两种息肉病变体似乎都具有显性遗传模式。婴儿期出现的幼年性息肉病患者可能有严重的症状和并发症。尽管幼年性息肉的癌前潜能仍存在疑问，但这些患者及其家族患胃肠道癌症的风险可能会增加。
