Barton Jeffrey S, Karmur Amit B, Preston Jennifer F, Sheppard Brett C
Oregon Health and Science University, Department of Surgery.
Western University of Health Sciences, College of Osteopathic Medicine of the Pacific, United States.
Int J Surg Case Rep. 2014;5(12):1038-40. doi: 10.1016/j.ijscr.2014.10.084. Epub 2014 Nov 1.
Jejuno-ileal diverticulitis (JID) is a rare entity, presenting with symptoms of failure to thrive, abdominal pain, obstruction, bleeding, and acute or chronic perforation with associated pneumoperitoneum. Currently no specific genetic abnormality has been identified that leads to JID. Treatment is based on control of symptoms associated with the disease.
We describe a familial cohort of patients with JID, with associated symptoms of chronic pneumoperitoneum, including a proposed genetic inheritance pattern and pedigree. In addition, we will describe the operative treatment of one family member's JID and chronic pneumoperitoneum.
While JID is rare, this familial cohort demonstrates a pattern of inheritance most consistent with autosomal dominance. The pathology demonstrates true diverticula, unlike most previous descriptions of JID. The index patient was successfully treated by minimally invasive surgery.
Familial JID is a rare entity, without an identified genetic abnormality. Treatment of chronic symptoms currently focuses on non-operative management. While most case reports involve individual patients, this cohort may possess a genetic mutation with an autosomal dominant pattern of inheritance. Further study into patients with JID may reveal an underlying genetic abnormality associated with development of the disease.
空回肠憩室炎（JID）是一种罕见疾病，表现为发育不良、腹痛、梗阻、出血以及伴有气腹的急性或慢性穿孔症状。目前尚未发现导致JID的特定基因异常。治疗基于对该疾病相关症状的控制。
我们描述了一组患有JID的家族性患者队列，伴有慢性气腹相关症状，包括一种推测的遗传遗传模式和家系图。此外，我们将描述一名家庭成员的JID和慢性气腹的手术治疗情况。
虽然JID罕见，但这个家族性队列显示出最符合常染色体显性遗传的遗传模式。病理显示为真性憩室，与之前大多数JID描述不同。索引患者通过微创手术成功治疗。
家族性JID是一种罕见疾病，尚未发现基因异常。目前慢性症状的治疗侧重于非手术管理。虽然大多数病例报告涉及个体患者，但这个队列可能存在常染色体显性遗传模式的基因突变。对JID患者的进一步研究可能揭示与该疾病发展相关的潜在基因异常。
