黑斑息肉综合征的家系调查研究

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、官颈腺癌、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.

A family survey of Peutz-Jeghers syndrome

Objective To assess the clinical features 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 ultrasonography 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 carry out family survey to screen potential malignancy.