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 (RIPK1) 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:
婴儿炎症性肠病(IBD)是一种非常罕见的IBD亚组,在2岁以下有遗传易感性的儿童中发展。尤其是那些单基因缺陷。这种类型,与年龄较大的儿童的IBD相比,对常规药物治疗更具抵抗力,并且存在更多的并发症,需要更多的手术干预。我们的病人是男性,有一级血亲。他16个月大的时候出现了多个肛周瘘,裂缝,脓肿,腹泻,发烧,未能茁壮成长。他接受了保护性双筒回肠造口术和肛周疾病的手术修复。经内镜和活检证实克罗恩病。进行了遗传检查,发现受体相互作用蛋白激酶1(RIPK1)突变。手术后开始常规儿科IBD治疗,包括肿瘤坏死因子拮抗剂阿达木单抗40mg,每周皮下注射5个月。尽管治疗,他出现了排尿困难和膀胱瘘。患者接受了二次手术修复。