Nameirakpam Johnson, Rikhi Rashmi, Rawat Sanjay Singh, Sharma Jyoti, Suri Deepti
Pediatric Allergy and Immunology Unit, Department of Pediatrics, Advanced Pediatrics Centre, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Genes Dis. 2019 Oct 15;7(1):93-106. doi: 10.1016/j.gendis.2019.10.003. eCollection 2020 Mar.
Inflammatory bowel disease (IBD) is more common in adults than in children. Onset of IBD before 17 years of age is referred as pediatric onset IBD and is further categorized as very early onset IBD (VEO-IBD) for children who are diagnosed before 6 years of age, infantile IBD who had the disease before 2 years of age and neonatal onset IBD for children less than 28 days of life. Children presenting with early onset disease may have a monogenic basis. Knowledge and awareness of the clinical manifestations facilitates early evaluation and diagnosis. Next generation sequencing is helpful in making the genetic diagnosis. Treatment of childhood IBD is difficult; targeted therapies and hematopoietic stem cell transplantation form the mainstay. In this review we aim to summarize the genetic defects associated with IBD phenotype. We describe genetic location and functions of various genetic defect associated with VEO-IBD with their key clinical manifestations. We also provide clinical clues to suspect these conditions and approaches to the diagnosis of these disorders and suitable treatment options.
炎症性肠病（IBD）在成人中比在儿童中更常见。17岁之前发病的IBD被称为儿童期发病的IBD，对于6岁之前被诊断出的儿童，进一步分类为极早发型IBD（VEO-IBD）；对于2岁之前患病的儿童为婴儿型IBD；对于出生不到28天的儿童为新生儿期发病的IBD。表现为早发型疾病的儿童可能有单基因基础。对临床表现的了解和认识有助于早期评估和诊断。下一代测序有助于进行基因诊断。儿童IBD的治疗很困难；靶向治疗和造血干细胞移植是主要治疗方法。在本综述中，我们旨在总结与IBD表型相关的基因缺陷。我们描述了与VEO-IBD相关的各种基因缺陷的基因定位和功能及其关键临床表现。我们还提供了怀疑这些疾病的临床线索、这些疾病的诊断方法以及合适的治疗选择。
