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伴有RIPK1突变的极早发性瘘管性炎症性肠病:一例报告

Very Early Onset of Fistulizing Inflammatory Bowel Disease With RIPK1 Mutation: A Case Report.

作者信息

Bsharat Rola K, AbuBshara Mahmoud E, Karajeh Islam H, Bast Amal F, Aljabari Taima M, Qumsieh Osama Q, Abumohsen Haytham M

机构信息

Health Sciences, Palestine Polytechnic University, West Bank, PSE.

Health Sciences, An-Najah National University, Nablus, PSE.

出版信息

Cureus. 2024 Mar 7;16(3):e55708. doi: 10.7759/cureus.55708. eCollection 2024 Mar.

Abstract

Infantile inflammatory bowel disease (IBD) is a very rare subgroup of IBD that develops in children younger than two years with genetic susceptibility, especially in those with monogenic defects. This type, when compared with IBD in older children, is more resistant to conventional medical treatment and presents with more complications that require more surgical interventions. Our patient is a male with first-degree consanguineous parents. He was 16 months old when he presented with multiple perianal fistulas, fissures, abscesses, diarrhea, fever, and failure to thrive. He underwent a protective double-barrel ileostomy and surgical repair of the perianal disease. Crohn's disease was confirmed after endoscopy and biopsy. A genetic workup was done and revealed receptor-interacting protein kinase 1 () mutations. Conventional pediatric IBD treatment was initiated after surgery, including tumor necrosis factor antagonist adalimumab 40 mg subcutaneously weekly for five months. Despite treatment, he presented with dysuria and a colovesical fistula. The patient underwent secondary surgical repair.

摘要

小儿炎症性肠病(IBD)是IBD中非常罕见的一个亚组,发生于两岁以下具有遗传易感性的儿童,尤其是那些有单基因缺陷的儿童。与大龄儿童的IBD相比,这种类型对传统药物治疗更具抗性,且出现更多需要更多手术干预的并发症。我们的患者是一名父母为一级近亲的男性。他16个月大时出现多处肛周瘘管、肛裂、脓肿、腹泻、发热及生长发育迟缓。他接受了保护性双腔回肠造口术及肛周疾病的手术修复。经内镜检查和活检确诊为克罗恩病。进行了基因检测,结果显示存在受体相互作用蛋白激酶1( )突变。术后开始采用传统的小儿IBD治疗方法,包括皮下注射肿瘤坏死因子拮抗剂阿达木单抗40毫克,每周一次,共五个月。尽管进行了治疗,他仍出现排尿困难和结肠膀胱瘘。患者接受了二次手术修复。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/77da/10998285/e94b7758d5ae/cureus-0016-00000055708-i01.jpg

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