《中国小肠镜诊治 Peutz‑Jeghers 综合征的 专家共识意见(2022 年)》的出台背景 黑斑 - 息肉综合征(Peutz ‑ Jeghers syndrome, PJS)是一种罕见的常染色体显性遗传性肿瘤综合 征,其主要特征为皮肤黏膜色素沉着,胃肠道多发 错构瘤性息肉和肿瘤易感性.尽管 PJS 是一种罕 见疾病,但我国是人口大国,发病人数仍然...
[13] Dos Santos VM, Dos Santos LAM, Modesto LC. Peutz-Jeghers syndrome: revisited. Autops Case Rep. 2022,12: e2021384. [14] Gordhandas SB, Kahn R, Sassine D, et al, Gastric-type adenocarcinoma of the cervix in patients with Peutz-Jeghers...
Peutz-Jeghers综合征(Peutz-Jegherssyndrome，简称为PJS)又称家族性黏膜皮肤色素沉着胃肠道息肉病，简称黑斑息肉综合征，是一种常染色体显性遗传疾病，发病率约为1/50000-1/200000，其临床表现以皮肤粘膜色素沉着、多发性胃肠息肉以及肿瘤易患性增加为特征。本病可发生于任何年龄,多见于儿童和青少年，男女发病率大致...
波伊茨-耶格 综合征 波伊茨-耶格综合征(Peutz-Jeghers syndrome,PJS),也被称为黑斑息肉综合征,是常染色体显性遗传的综合征,是一类伴有黏膜、皮肤色素沉着的全胃肠道多发性息肉病。2018年5月该疾病被列入国家卫生健康委员会等5部门联合制定的《第一批罕见病目录...
The guidelines have been designed to promote seamless implementation of accurate diagnosis and appropriate management of pediatric, adolescent and adult patients with the disease. 展开 关键词: Peutz-Jeghers syndrome child adult STK11 hamartomatous polyps ...
Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)以皮肤黏膜色素斑、胃肠道错构瘤息肉和遗传性为临床特征. PJS胃肠道息肉可产生梗阻、出血、套叠、恶变等严重并发症, 目前其临床治疗以手术和内镜治疗为主, 其中双气囊电子小肠镜对于PJS胃肠道息肉的诊断和治疗具有重要的临床意义. 随着转化医学的进步, 分子靶向治疗为...
Peutz-Jeghers Syndrome - Etiology, pathophysiology, symptoms, signs, diagnosis & prognosis from the Merck Manuals - Medical Professional Version.
Peutz-Jeghers syndrome (PJS) is an autosomal dominant polyposis syndrome with high penetrance. It is associated with a germline mutation in the STK11 / LKB1 gene (19p13.3) in 80–94 % of patients [1] and has an incidence of about 1 in 8,500 to 1 in 200,000 live births [2–5]. ...
Peutz-Jeghers综合征(peutz-jeghers syndrome,PJS)是一类少见的以胃肠道多发性息肉和黏膜黑斑为临床表现的综合征。病因尚不完全清晰,临床表现主要以消化道症状和皮肤黏膜色素沉着为主。诊断主要依靠患者临床表现及辅助检查。内镜检查常可发现胃肠道多发性息肉,基因检测常可发现丝氨酸/苏氨酸激酶11(serine/threonine kinase...
The meaning of PEUTZ-JEGHERS SYNDROME is a familial polyposis inherited as an autosomal dominant trait and characterized by numerous polyps in the stomach, small intestine, and colon and by melanin-containing spots on the skin and mucous membranes especi