Peutz-Jeghers综合征58例临床分析

目的分析Peutz-Jeghers综合征的临床特点,探讨合理的临床治疗策略。方法收集空军总医院2003~2010年5月收治的58例Peutz-Jeghers综合征住院患者的临床资料,对临床表现、合并疾病及治疗方法等进行回顾性分析。结果 58例患者绝大多数在20岁前发病（87.93%）,58例患者在口唇、颊黏膜或四肢末端均表现为皮肤黏膜色素沉着,腹痛为主要表现42例,重者可致肠套叠。58例患者自胃到大肠均有息肉发生,但常见于小肠,空肠最常见。54例患者内镜下切除息肉1 497枚,术后消化道出血5例,穿孔4例。病理结果：错构瘤性息肉52例,腺瘤4例,十二指肠黏液腺癌2例。结论 Peutz-Jeghers综合征患者息肉大小、数目及增长速度随年龄增长而呈下降趋势,内镜下积极处理息肉及肿瘤筛查是提高Peutz-Jeghers综合征远期疗效的主要方法。     

Peutz-Jeghers综合症7例诊治分析

目的分析Peutz-Jeghers综合征的临床特点,探讨其诊断及治疗方法。方法收集Peutz-Jeghers综合征的临床资料7例,对临床表现、内镜治疗等进行回顾性分析。结果 7例患者中,表现为不同程度的皮肤或黏膜黑斑,伴有胃和/或肠息肉,分别行内镜下息肉切除,病理结果为错构瘤性息肉,PJS以青少年多见,首次发病年龄为14～22岁。结论 Peutz-Jeghers综合征患者的息肉多发且形态多样,其中结肠息肉以直肠及乙状结肠为著,需积极的内镜下处理,并且需密切随访和筛查全身肿瘤的发生。     

Peutz-Jeghers综合征合并肿瘤分析26例

目的: 分析Peutz.Jegllers综合征及合并癌变的临床特征.总结其治疗和随访方案.方法: 回顾性分析荆楚理工学院附属第一、二临床医院1986.09/2006.08间收治的26例Peutz.Jeherts综合征患者的临床资料.结果: 10例患者(38.46%)家族史明确,临床以皮肤黏膜色素沉着、腹痛及便血为主要表现.并发肠梗阻14例(53.85%),消化道出血1O例(38.46%);发生恶变6例(23.08%),其中结肠癌3例,胃癌3例,平均确诊年龄31岁,恶变者的病理组织学分型均为低分化黏液腺癌.内镜下高频电凝息肉切除术、开腹肠道息肉切除及肠部分切除术为主要治疗手段.结论: Peutz.Jeghers综合征患者是恶性肿瘤的高发人群,肿瘤患者发病年龄轻,分化较差.定期复查内镜,以内镜高频电凝积极处理肠息肉,以及筛查肿瘤是提高Peutz-Jegllers综合征远期疗效的有效方法.     

Peutz-Jeghers综合征1例

Peutz-Jeghers综合征(PJS),又名黑色素斑-胃肠多发息肉综合征,以皮肤黏膜色素沉着,全胃肠道多发性息肉为特征,临床上较为少见,发病率约为1/2百万[1].我院收治了1例PJS成人患者.     

Peutz-Jeghers综合征的诊治进展和预防性治疗

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...     

双胞胎同患Peutz-Jeghers综合征

例1 患者男,13岁。阵发性腹痛15 d来诊。该患者自幼即被发现口唇、指趾端散在黑斑,经多家皮肤病医院治疗,无好转。2周前出现阵发性左上腹绞痛,每天发作1-2次,每次持续数分钟,自行缓解。血常规示:红细胞2.6×1012／L,血红蛋白65g／L,血白细胞总数及分类计数正常。     

Peutz-Jeghers综合征小肠息肉的诊治技术现状和药物治疗进展

Peutz-Jeghers综合征具有特征性的皮肤、黏膜黑斑和胃肠道多发息肉,本征的息肉最常出现在小肠,可导致消化道出血、肠梗阻、肠套叠、癌变等并发症,常需手术治疗。对小肠息肉的及时检出和治疗,不仅有利于减少各种并发症,而且可以减少手术干预。本文将对Peutz-Jeghers综合征小肠息肉的各种检测和治疗方法的优劣性及最新的药物治疗进行阐述。     

Peutz-Jeghers综合征18例报告

Peutz-Jeghers syndrome(PJS)又称皮肤粘幞翼色素斑-胃肠道多发性息肉综合征。具有三大特征：①多发性胃肠道息肉；②特定部位的皮肤及粘膜的黑色素斑点；③遗传性。南方医院自1977-1997年共收治18例，现报告如下：     

Peutz-Jeghers综合征临床诊断治疗的现状和问题

Peutz-Jeghets综合征(Peutz-Jeghers syndrome,PJS)是一种常染色体显性遗传性疾病,主要突变基因是LKB1/STK11,胃肠道错构瘤,皮肤黏膜色素斑和家族遗传性为其主要特点,主要并发症是肠梗阻和肠道及胃肠道外恶性肿瘤.本病好发于青少年,除有恶变倾向外,由肠道息肉导致的并发症,反复住院,多次手术,高昂的医疗费用,对国内只有一个独生子女的小家庭,危害极大.本文着重论述PJS临床诊断和治疗中的一些问题,如双气囊电子小肠镜的临床应用,内镜配合手术治疗的经验,介绍抑制环氧化酶2(COX-2)抑制剂和雷帕霉素预防PJS的新动向.     

Peutz-Jeghers综合征伴癌变、直肠脱垂1例

<正>Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)是一种罕见的常染色体显性遗传疾病,以皮肤黏膜色素沉着、多发性消化道错构瘤性息肉为主要特征,同时增加了恶性肿瘤发生风险[1]。与PJS相关的恶性肿瘤可分为胃肠道型和非胃肠道型,其中,结直肠癌是PJS患者中最常见的胃肠道恶性肿瘤,有研究报道[2],PJS患者结直肠癌患病风险高达39%,并且随着年龄的增加而增加。直肠脱垂是指肛管、直肠、     

Peutz-Jeghers综合征预防性治疗的研究

Peutz-Jeghers综合征(PJS)又称黑斑息肉病,以皮肤黏膜色素斑、消化道错构瘤息肉和遗传性为临床特征。PJS消化道息肉可产生梗阻、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,都是局部、被动的治疗手段,而无法达到预防息肉发生发展的作用。随着针对PJS的转化医学的进步,针对细胞信号通路及其关键酶的分子靶向药物使PJS消化道息肉的预防性治疗成为可能,其代表是环氧合酶-2的选择性抑制剂和哺乳动物雷帕霉素靶蛋白抑制剂。而以"济生乌梅丸"为代表的中药也为PJS息肉的预防性治疗提供另一个选择。本文总结近年来国内外学者在PJS研究中所取得的共识与进展的基础上,结合自身临床诊治经验,提出了中西医结合预防性治疗PJS胃肠道息肉的思路和方法。以提高临床医生对PJS胃肠道息肉的诊治能力,从而使PJS患者能得到最大的临床获益。     

Clinical features,diagnosis, and treatment of Peutz-Jeghers syndrome: Experience with 566 Chinese cases

BACKGROUND Peutz-Jeghers syndrome(PJS) is a clinically rare disease with pigmented spots on the lips and mucous membranes and extremities, scattered gastrointestinal polyps, and susceptibility to tumors as clinical manifestations. Effective preventive and curative methods are still lacking. Here we summarize our experience with 566 Chinese patients with PJS from a Chinese medical center with regard to the clinical features, diagnosis, and treatment.AIM To explore the clinical features, diagnosis...     

Rectal carcinoid tumor associated with the Peutz-Jeghers syndrome

A 16-year-old man who had been diagnosed with the Peutz-Jeghers syndrome at the age of 8 years presented with crampy abdominal pain. Thorough examinations revealed a large jejunal polyp causing intussusception, as well as multiple polyps in the small and large intestines. Preoperative proctoscopy demonstrated the coexistence of a submucosal tumor in the rectum. Proctoscopic mucosal resection was performed and histological and immunohistochemical examinations led to a diagnosis of carcinoid tumor. Additional transanal resection of the rectal wall showed no residual tumor and the patient has been well for 2 years to date. Although malignant tumors are increasingly reported in association with the Peutz-Jeghers syndrome, to our knowledge, there have been no previous reports of such an association in the English-language and Japanese literature. Received Jan. 21, 1998; accepted Mar. 27, 1998     

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.     

Carcinoma and polyps of the gallbladder associated with Peutz-Jeghers syndrome

Summary Peutz-Jeghers syndrome is a genetic condition characterized by mucocutaneous pigmentation and gastrointestinal polyposis. A variety of neoplasms have been found in the alimentary tract or else-where in patients with this entity. A 39-year-old female patient who had carcinoma and two polyps in the gallbladder in association with Peutz-Jeghers syndrome is described. Since the polyps consisted of the normal lining epithelium of the gallbladder and pseudopyloric gland-type metaplastic cells and obviously lacked cellular atypism, the authors would consider them hamartomatous. The carcinoma partly showing submucosal invasion existed in an area other than the polyps. This is the first documented case of the syndrome having gallbladder carcinoma.     

Mirizzi综合征诊治14例

目的:探讨Mirizzi综合征的诊断和治疗特点,提高其诊治水平,避免胆道损伤.方法:回顾性分析我院2004-11/2007-08收治的14例Mirizzi综合征的临床资料.结果:术前诊断4例,其余均为术中诊断,根据Nagakawa分型标准,本组病例分为Ⅰ型10例,Ⅱ型2例,Ⅲ型2例,全部病例治愈出院,术后随访均未发生胆管狭窄及其他并发症.结论:Mirizzi综合征术前诊断困难,术中需仔细探查,必要时行术中胆道造影以明确诊断,并根据不同类型选择适当的手术方式,以避免医源性胆管损伤.     

Peutz-Jeghers syndrome： Diagnostic and therapeutic approach

Peutz-Jeghers syndrome (PJS) is an inherited, autosomal dominant disorder distinguished by hamartomatous polyps in the gastrointestinal tract and pigmented mucocutaneous lesions.Prevalence of PJS is estimated from 1 in 8300 to 1 in 280 000 individuals.PJS predisposes sufferers to various malignancies (gastrointestinal, pancreatic, lung, breast, uterine, ovarian and testicular tumors).Bleeding, obstruction and intussusception are common complications in patients with PJS.Double balloon enteroscopy (DBE) allows examination and treatment of the small bowel.Polypectomy using DBE may obviate the need for repeated urgent operations and small bowel resection that leads to short bowel syndrome.Prophylaxis and polypectomy of the entire small bowel is the gold standard in PJS patients.Intraoperative enteroscopy (IOE) was the only possibility for endoscopic treatment of patients with PJS before the DBE era.Both DBE and IOE facilitate exploration and treatment of the small intestine.DBE is less invasive and more convenient for the patient.Both procedures are generally safe and useful.An overall recommendation for PJS patients includes not only gastrointestinal multiple polyp resolution, but also regular lifelong cancer screening (colonoscopy, upper endoscopy, computed tomography, magnetic resonance imaging or ultrasound of the pancreas, chest X-ray, mammography and pelvic examination with ultrasound in women, and testicular examination in men).Although the incidence of PJS is low, it is important for clinicians to recognize these disorders to prevent morbidity and mortality in these patients, and to perform presymptomatic testing in the first-degree relatives of PJS patients.     

Novel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome

Peutz-Jeghers syndrome (PJS), a rare autosomal dominant inherited disorder, is characterized by hamartomatous gastrointestinal polyps and mucocutaneous pigmentation. Patients with this syndrome have a predisposition to a variety of cancers in multiple organs. Mutations in the serine/threonine kinase 11 (STK11) gene have been identified as a major cause of PJS. Here we present the clinical and molecular findings of two unrelated Thai individuals with PJS. Mutation analysis by Polymerase Chain Reaction-sequencing of the entire coding region of STK11 revealed two potentially pathogenic mutations. One harbored a single nucleotide deletion (c.182delG) in exon 1 resulting in a frameshift leading to premature termination at codon 63 (p.Gly61AlafsX63). The other carried an in-frame 9-base-pair (bp) deletion in exon 7, c.907_915del9 (p.Ile303_Gln305del). Both deletions were de novo and have never been previously described. This study has expanded the genotypic spectrum of the STK11 gene.