Xu L J, Luo Y Y, Yu J D, Lou J G, Fang Y H, Chen J
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang 310003, China.
Zhonghua Er Ke Za Zhi. 2018 Jan 2;56(1):43-47. doi: 10.3760/cma.j.issn.0578-1310.2018.01.011.
To analyze the clinical characteristics of X-linked inhibitor of apoptosis (XIAP) deficient patients with clinical manifestation of Crohn's disease. Clinical manifestations, laboratory investigations, genetic testing and therapeutic interventions of one case of XIAP deficiency who was admitted to Department of Gastroenterology in Children's Hospital, Zhejiang University School of Medicine in May 2016 were summarized. PubMed and Chinese database for articles published from January 2016 to June 2017 were searched using the key words of'Crohn's disease'and'XIAP', and the relevant literature was reviewed. The case we reported was a 6-year-1-month-old boy with recurrent bloody stool for 2 months, and abdominal pain with fever for 2 weeks. The patient had a past history of hemophagocytic lymphohistiocytosis (HLH) and epilepsy in the past one year. Complete blood cell count showed mild anemia (Hb108 g/L). The patient had an elevated high-sensitivity C reactive protein (86 mg/L) and erythrocyte sedimentation rate (46 mm/1h) . White blood cells, pus cells and red blood cells were found on routine stool examination. Biochemical panel showed hypoalbuminemia (25.2 g/L) , elevated transaminase (alanine aminotransferase 175 U/L, aspartate transaminase 229 U/L) , hypertriglyceridemia (4.41 mmol/L) , and hyperferritinemia (>1 650.0 μg/L) . Magnetic resonance enterography revealed the intestinal wall thickening and increased enhancement in parts of illeum and colon. Capsule endoscopy revealed multiple ulcers in jejunum. Colonoscopy showed multiple ulcers in colon and the pathological examination revealed chronic inflammation in mucosa of terminal ileum and colon, which was combined with partial necrosis and ulceration. Some phagocytes were seen in bone marrow smears. The patient was given multiple diagnoses, including hemophagocytic lymphohistiocytosis, Crohn's disease, sepsis, epilepsy, severe malnutrition, and hypoproteinemia. The pediatric Crohn's disease activity index (PCDAI) was 37.5. Genetic testing identified a hemizygotic mutation of c.910G>T chrX:123022501 p.G304X in XIAP. The parents had no such mutation. The patient showed response to infliximab with oral intake of mercaptopurine and corticosteroids, and had remission with PCDAI of 0. There were 9 relevant articles (Chinese 0 English 9), which showed 33.3% XIAP deficient patients manifested with inflammatory bowel disease(IBD), who might have other manifestations such as hemophagocytic lymphohistiocytosis or splenomegaly simultaneously or sequentially. Those patients showed poor response to monotherapy. XIAP deficient patients have various clinical manifestations. Genetic testing is important to those male pediatric IBD patients who have the complicated symptoms or little response to standard therapy.
分析具有克罗恩病临床表现的X连锁凋亡抑制蛋白（XIAP）缺陷患者的临床特征。总结2016年5月浙江大学医学院附属儿童医院收治的1例XIAP缺陷患者的临床表现、实验室检查、基因检测及治疗干预情况。以“克罗恩病”和“XIAP”为关键词，检索2016年1月至2017年6月发表的PubMed及中文数据库文章，并复习相关文献。报道的病例为一名6岁1个月男孩，反复便血2个月，腹痛伴发热2周。患者过去一年有噬血细胞性淋巴组织细胞增生症（HLH）和癫痫病史。全血细胞计数显示轻度贫血（血红蛋白108 g/L）。患者高敏C反应蛋白（86 mg/L）和红细胞沉降率（46 mm/1h）升高。粪便常规检查发现白细胞、脓细胞和红细胞。生化检查显示低白蛋白血症（25.2 g/L）、转氨酶升高（谷丙转氨酶175 U/L，谷草转氨酶229 U/L）、高甘油三酯血症（4.41 mmol/L）和高铁蛋白血症（>1650.0 μg/L）。磁共振肠造影显示部分回肠和结肠肠壁增厚及强化增加。胶囊内镜显示空肠多发溃疡。结肠镜检查显示结肠多发溃疡，病理检查显示回肠末端和结肠黏膜慢性炎症，伴有部分坏死和溃疡。骨髓涂片可见一些吞噬细胞。该患者有多项诊断，包括噬血细胞性淋巴组织细胞增生症、克罗恩病、败血症、癫痫、重度营养不良和低蛋白血症。儿童克罗恩病活动指数（PCDAI）为37.
