Kunovsky L, Kala Z, Marek F, Dolina J, Poredska K, Kucerova L, Benesova K, Mitas L
Department of Surgery, University Hospital Brno Bohunice, Faculty of Medicine, Masaryk University, Jihlavska 20, 62500, Brno, Czech Republic.
Department of Gastroenterology, University Hospital Brno Bohunice, Faculty of Medicine, Masaryk University, Brno, Czech Republic.
Int J Colorectal Dis. 2019 Feb;34(2):347-351. doi: 10.1007/s00384-018-3122-7. Epub 2018 Aug 2.
Crohn's disease (CD) belongs to chronic disorders with unpredictable disease course. The aim of this study was to identify how genetic testing (NOD2/CARD15) can be used in patients with CD to predict the need for surgical treatment (to define an aggressive type of disease where the patient can profit from early surgery).
The patients who were tested genetically had undergone a surgery due to CD at the Department of Surgery University Hospital Brno Bohunice between 2010 and 2016. The control group consisted of patients with CD who had been diagnosed with CD at least 5 years prior to the testing and had not required any surgical intervention. The second control group was healthy subjects.
In total, there were 117 operated patients for CD, 77 patients with CD that had not undergone surgery for CD and 30 healthy subjects. For patients with at least one genetic mutation, the risk of the necessity of surgical treatment of CD is 1.96 times higher than for patients with no mutation. Patients with two or more mutations were generally operated on at a younger age, in a shorter time after being diagnosed and each patient had a partial resection of the ileum.
The group of operated patients with CD had a significantly higher distribution of at least one genetic mutation as opposed to the non-operated group. In patients with two or more mutations, the disease course was more aggressive. This group of patients might profit from the conservative top-down or early surgical therapy.
克罗恩病（CD）属于疾病进程不可预测的慢性疾病。本研究的目的是确定基因检测（NOD2/CARD15）如何用于CD患者，以预测手术治疗的必要性（确定一种侵袭性疾病类型，使患者能从早期手术中获益）。
接受基因检测的患者于2010年至2016年期间在布尔诺博胡尼采大学医院外科因CD接受了手术。对照组由在检测前至少5年被诊断为CD且未接受任何手术干预的CD患者组成。第二对照组为健康受试者。
总共有117例接受CD手术的患者、77例未接受CD手术的CD患者和30名健康受试者。对于至少有一个基因突变的患者，CD手术治疗必要性的风险比无突变患者高1.96倍。有两个或更多突变的患者通常在更年轻的时候接受手术，诊断后较短时间内接受手术，且每位患者均进行了回肠部分切除术。
与未手术组相比，接受CD手术的患者组中至少有一个基因突变的分布显著更高。在有两个或更多突变的患者中，疾病进程更具侵袭性。这组患者可能从保守的自上而下或早期手术治疗中获益。
