Department of Rheumatology, Children's Hospital of Fudan University, National Paediatric Medical Center of China, Shanghai, China.
Department of Nephrology, Children's Hospital of Fudan University, National Paediatric Medical Center of China, Shanghai, China.
Clin Exp Rheumatol. 2024 Oct;42(10):2076-2085. doi: 10.55563/clinexprheumatol/g6729b. Epub 2024 Oct 2.
This retrospective study aimed to investigate the clinical characteristics and genetic findings in paediatric patients with gastrointestinal involvement in Behçet's disease (BD), elucidating the spectrum of autoinflammatory syndromes mimicking BD in this young population.
Fifty paediatric patients diagnosed with BD between January 2016 and December 2022, including 24 (48%) with gastrointestinal involvement, underwent comprehensive analysis. Clinical presentations, laboratory examinations, gastrointestinal endoscopy, and genetic tests were conducted, with patients stratified based on genetic results for rigorous comparative clinical analysis.
The cohort, with a median age of disease onset at 4.0 years, predominantly manifested with recurrent oral ulcers (100%). Gastrointestinal symptoms were prevalent in 83.3%, with abdominal pain (70%) and haematochezia (16.7%) being notable. Endoscopic evaluations unveiled lesions primarily in the terminal ileum and ileocecal region, with diverse ulcers across various anatomical sites. While 70.8% initially met ICBD criteria, only 41.6% fulfilled new paediatric classification criteria. Genetic analysis in 18 patients unveiled pathogenic variants in 7, with the genetic-positive group exhibiting earlier onset and more atypical symptoms. Noteworthy cases included X-linked deficiency in ELF4, A20 haploinsufficiency, and Majeed syndrome, with two cases revealing chromosomal abnormalities such as trisomy 8 syndrome. Comparative analysis underscored earlier disease onset, heightened inflammatory markers, and distinctive gastrointestinal lesions in the genetic-positive cohort.
Identification of monogenic diseases and chromosomal abnormalities resembling BD underscores the imperative of precise diagnosis for tailored treatment and genetic counselling. Expanding genetic screening initiatives holds promise for enhancing our comprehension of the genetic landscape associated with BD.
本回顾性研究旨在探讨贝切特病（BD）患儿胃肠道受累的临床特征和遗传学发现，阐明该年轻人群中类似 BD 的自身炎症综合征谱。
对 2016 年 1 月至 2022 年 12 月期间诊断为 BD 的 50 例儿科患者（包括 24 例（48%）胃肠道受累）进行综合分析。进行了临床特征、实验室检查、胃肠道内镜检查和基因检测，根据基因检测结果对患者进行分层，以进行严格的临床比较分析。
该队列的疾病中位发病年龄为 4.0 岁，主要表现为复发性口腔溃疡（100%）。胃肠道症状常见（83.3%），腹痛（70%）和血便（16.7%）较为突出。内镜检查发现病变主要位于末端回肠和回盲部，不同解剖部位有多种溃疡。虽然 70.8%的患者最初符合 ICBD 标准，但只有 41.6%符合新的儿科分类标准。对 18 例患者的基因分析发现了 7 例致病性变异，基因阳性组的发病年龄更早，症状更不典型。值得注意的病例包括 X 连锁 ELF4 缺乏、A20 杂合不足和 Majeed 综合征，有两例病例显示出三体 8 综合征等染色体异常。对比分析显示，基因阳性组疾病发病更早，炎症标志物水平更高，胃肠道病变更为独特。
发现类似 BD 的单基因疾病和染色体异常突显了精确诊断对于个体化治疗和遗传咨询的重要性。扩大基因筛查计划有望提高我们对与 BD 相关的遗传景观的理解。
