黑斑息肉综合征的家系调查研究  

A family survey of Peutz-Jeghers syndrome

作　　者：戴益琛[1] 宋于刚[2] 林志翔[1] 姜元琴 陈章兴[1] 谢军培[1] 傅育卡[1] 曾伟[1] 

机构地区：[1]解放军174医院消化科,厦门市361003 [2]南方医科大学南方医院消化科

出　　处：《中华消化内镜杂志》2009年第12期641-643,共3页Chinese Journal of Digestive Endoscopy

基　　金：厦门市科技计划医疗卫生创新项目（3502Z20084031）

摘　　要：目的探讨黑斑息肉综合征（PJS）的临床特点及其家系调查的意义。方法对15例先证者及其高危亲属的一般资料、临床表现，以及消化道外的表现和内镜下表现进行调查观察，如确诊PJS，经内镜或外科治疗后，每年至少复查1次胃镜、结肠镜、全消化道钡餐及腹部B超、X线胸片。结果普查PJS患者亲属共63例，发现PJS患者34例。新发现的患者均有黑斑，其中伴有其他症状者18例，有5例患者合并恶性肿瘤，包括胃腺癌、小肠腺癌、大肠腺癌、宫颈腺癌、左颈部淋巴结腺癌各1例。结论黑斑息肉综合征的部分患者早期临床表现无特异性，部分患者易出现恶变。对PJS患者及其亲属进行定期联系及普查，有利于对恶性肿瘤进行早期诊断和治疗。Objective To assess the clinical featmes of Peutz-Jeghers syndrome （PJS） and the significance of family survey. Methods Data of PJS patients and high risk relatives from 15 pedigrees, including clinical manifestations and endoscopic findings, were retrospectively studied. The diagnosed PJS patients were treated endoscopically or surgically and were followed up annually with gastroscopy, colonoscopy, barium swallow, abdominal uhrasonography and chest X-ray. Results A total of 63 relatives of 15 PJS patients were screened and 34 new patients were confirmed by endoscopy, among whom, 18 patients had symptoms other than scattered pigmentation around lips and finger tips. Adenocarcinoma was accompanied in 5 patients, locating at stomach, small intestine, colon, cervix and lymph node at left neck, respectively. Conclusion PJS patient has no characteristic manifestation at its early stage. It is important to ean＇y out family survey to screen potential malignancy.

关 键 词：Peutz—Jegher综合征 家系调查 早期诊断 

分 类 号：R7[医药卫生—临床医学] R5