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81.
家族性腺瘤性息肉病伴发硬纤维瘤的诊断和治疗   总被引:2,自引:0,他引:2  
目的探讨家族性腺瘤性息肉病伴发硬纤维瘤的诊断和治疗.方法回顾性分析1995年1月至2005年1月收治的6例家族性腺瘤性息肉病并发硬纤维瘤患者的手术史、临床表现、治疗方法和随访结果,分析总结诊疗经验.结果5例患者发生硬纤维瘤前有大肠手术史,1例无腹部手术史.腹部无痛性肿块是最常见的临床表现,6例均通过影像学检查确诊.手术治疗4例,术后2例继续服用药物治疗,期待治疗1例.术后复发2例,1例出现短肠综合征.6例患者均存活.结论FAP患者伴发硬纤维瘤并不罕见,应提高警惕,及时发现并治疗.需根据患者全身情况和肿瘤部位,选择合理的治疗方式.  相似文献   
82.
目的:考察遗传性非息肉病性结直肠癌(HNPCC)家系hMLH1/hMSH2生殖系突变的情况.方法:选择13个符合Amsterdam标准的HNPCC家系中的先证者,利用DNA 测序检测hMLH1/hMSH2基因突变情况.对其中不携带hMLH1/hMSH2生殖系突变的HNPCC 家系,利用免疫组化检测hMLH1/hMSH2基因表达、PCR-SSCP检测先证者肿瘤组织的微卫星不稳定性(MSI).结果:13个HNPCC家系的先证者中有3例检测不到hMLH1/hMSH2的生殖系突变.3例无hMLH1/hMSH2突变的先证者中,肿瘤组织的微卫星不稳定检测均为MSI-H,免疫组化检测hMLH1/hMSH2基因表达正常.结论:3个严格符合Amsterdam标准的HNPCC家系中未发现hMLH1/hMSH2基因系突变,提示可能存在其他基因突变导致该3个家系HNPCC肿瘤发生.  相似文献   
83.
赵元恂  周家镇  任明扬  张军 《西部医学》2009,21(9):1572-1573
目的探讨家族性结肠息肉病(FPC)保留全直肠肌鞘的意义与旋转剥离直肠粘膜的技巧。方法分析23例家族性结肠息肉病患者采用离断肠系膜上动、静脉,全直肠肌鞘内回肠襞一肛管吻合术治疗的效果,并探讨旋转剥离直肠粘膜的技巧。结果23例FPC患者均完整剥离直肠粘膜,直肠肌鞘内不遗留残膜,无手术失败病例,无近期感染病例,无息肉复发,近期与远期疗效均满意。结论对FPC患者手术中实施旋转剥离直肠粘膜方法,可完整剥离直肠粘膜,保留全直肠肌鞘,从而就保存了储便排便的肌性器官及附着的骶神经丛,使患者术后大便正常,小便及性功能亦未受损伤,具有临床推广应用价值。  相似文献   
84.
Rectal bleeding combined with the presence of a rectal mass has been traditionally associated with the presence of malignant disease.Cap polyposis is a relatively young and still undefined rare entity which mainly involves the rectosigmoid.It is characterized by the presence of inflammatory polyps.In this case report,we present a patient who was diagnosed with a solitary cap polyp of the rectum during the investigation of a bleeding rectal mass.The patient’s age and the absence of family history were not in favor of malignancy,despite the strong initial clinical impression.After confirmation of the diagnosis,the patient underwent a snare excision and remains asymptomatic.Cap polyposis,although rare,should be suspected and,when diagnosed,should be treated according to location,number of polyps and severity of symptoms.  相似文献   
85.
The short bowel syndrome (SBS) can result from a variety of conditions, including postoperative complications and malignancy. Continence-preserving operations are generally performed for either ulcerative colitis (UC) or familial polyposis (FAP). These procedures can be associated with high morbidity and the potential for future malignancy. Our aim was to determine the causes and consequences of SBS in patients undergoing these procedures. Twenty-four patients (12 men and 12 women) 18 to 64 years of age were identified with SBS after continence-preserving procedures. Eighteen had pelvic procedures, and six had continent ileostomies. All SBS patients had a proximal ostomy. Remnant length measured <60 cm in five patients, 60–120 cm in ten patients, and >120 cm in nine patients. Overall 13 patients required long-term PN. Four FAP patients with desmoid tumors died. One patient with UC underwent intestinal transplant and expired. Follow-up ranges from 6 to 192 months. Overall 14 patients had UC, nine had FAP, and one had functional disease. Eight patients with an initial diagnosis of UC had subsequent Crohn’s disease necessitating further resection and pouch excision. Eight patients (five with UC, two FAP, and one with functional disease) had postoperative complications, including obstruction or mesenteric ischemia requiring resections. One UC patient developed adenocarcinoma in a continent ileostomy. Seven of the nine FAP patients required resection for desmoid tumors. Six of these underwent resection alone. Three died at 10, 11, and 13 months after SBS from liver failure and sepsis while awaiting transplant. One patient has recurrent desmoid at 30 months, another is alive and well at 48 months, and the other patient, who was not a transplant candidate, died from an unrelated cardiac operation at 23 months. A single patient underwent resection with simultaneous multivisceral transplantation. SBS can develop after continence-preserving procedures. This occurs with inflammatory bowel disease when unsuspected Crohn’s disease is present or complications occur. SBS related to desmoid tumors has a poor prognosis in patients undergoing resection alone. A more aggressive approach to intestinal transplantation in these patients may be warranted.  相似文献   
86.
目的探讨全大肠切除回肠贮袋肛管吻合术在治疗家族性腺瘤性息肉病(familial adenomatous polyposis,FAP)中的价值。方法回顾性分析1995—2005年45例FAP患者行全大肠切除回肠贮袋肛管吻合术的手术方式、并发症以及结肠镜、肛肠测压等随访资料。结果45例中发生吻合口漏1例;术后平均排便频率:3个月内每日9次,6个月后每日5次,12个月后每日4次;术后平均肛管慢波静息压为5 cm H_2O,频率为13次/min,肛管收缩压平均180 cm H_2O。37例术后结肠镜随访发现,14例有贮袋息肉(14/37,38%);4例术后发生小肠系膜硬纤维瘤。结论全大肠切除回肠贮袋肛管吻合术是FAP理想的外科手术方式,回肠"J"型贮袋患者控便功能良好,术后应密切随访,预防发生大肠外肿瘤。  相似文献   
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89.
Approximately 5% of colorectal cancers arise within an inherited colorectal cancer syndrome, with known underlying genetic etiologies. These syndromes increase the risk of colorectal and extracolonic cancers. Identification of a specific genetic pathogenic variant defines the syndrome, and quantifies the elevated risks compared to the general population. Thus, knowing and understanding the risks associated with each pathogenic variant allows for risk-stratification and a more individualized management strategy. These factors influence both the timing of surgery and the extent of colorectal surgery for patients with these syndromes. Familial Adenomatous Polyposis (FAP) is a dominantly inherited polyposis syndrome caused by pathogenic variant in the APC gene and results in a near 100% chance of developing colorectal cancer if not treated. There is a genotype-phenotype correlation in which the affected gene locus is associated with severity of polyposis and the risk of desmoid disease. Prophylactic surgery ranging from total abdominal colectomy or total proctocolectomy is recommended before cancer develops. Lynch syndrome is a non-polyposis inherited syndrome caused by a pathogenic variant in MLH1, MSH2, MSH6, or PMS2. Although prophylactic colectomy in Lynch syndrome is uncommon, total abdominal colectomy as prophylaxis in the setting of colon cancer is recommended due to the likelihood of metachronous colorectal cancer. This article reviews the role of genetics surgical decision making with respect to the timing and extent of surgery within the hereditary colorectal cancer syndromes.  相似文献   
90.
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