Fang Youhong, Gu Weizhong, Luo Youyou, Chen Jie
Department of Gastroenterology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Bin Sheng RoadZhejiang Province, Hangzhou, 310052, China.
Department of Pathology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
BMC Pediatr. 2020 Sep 17;20(1):438. doi: 10.1186/s12887-020-02333-0.
SLCO2A1 was recently reported to cause nonspecific ulcers at small bowel, it was named as chronic enteropathy associated with SLCO2A1 (CEAS). It was rarely reported beyond the Japanese population.
A 4-year-5-month old girl presented with intractable anemia since 1-year-3-month. Her stool occult blood test was positive and the result of esophagogastroduodenoscopy and colonoscopy were normal. She was considered as obscure gastrointestinal bleeding. The magnetic resonance enterography and ultrasound of small intestinal revealed segmental thickening of small bowel. The capsule endoscopy detected ulcers, erosion and slightly stenosis near the site of junction of jejunum and ileum. She was considered chronic non-specific multiple ulcers of the small intestine and was advised to have whole exon sequencing. She was treated with exclusive enteral nutrition and iron supplement for two months. However, she was not responsive to this treatment, then she had three doses of infliximab. At the same time, the next-generation sequencing of this patient revealed two novel compound heterozygous mutations in SLCO2A1. She was diagnosed with CEAS and was treated with oral mercaptopurine. Her hemoglobin level was stable and the serum albumin level was slightly decreased during the follow up.
CEAS may present as nonspecific small bowel ulcers, and misinterpret as small bowel Crohn's disease. Genetic tests may help with the precise diagnosis of small bowel ulcers.
最近有报道称，溶质载体有机阴离子转运体家族成员2A1（SLCO2A1）可导致小肠出现非特异性溃疡，该病被命名为与SLCO2A1相关的慢性肠病（CEAS）。除日本人群外，相关报道很少。
一名4岁5个月大的女孩自1岁3个月起出现难治性贫血。她的粪便潜血试验呈阳性，而食管胃十二指肠镜检查和结肠镜检查结果正常。她被诊断为不明原因的胃肠道出血。小肠磁共振肠造影和超声检查显示小肠节段性增厚。胶囊内镜检查发现空肠和回肠交界处附近有溃疡、糜烂和轻度狭窄。她被诊断为慢性非特异性小肠多发溃疡，并建议进行全外显子测序。她接受了两个月的全肠内营养和铁补充剂治疗。然而，她对这种治疗没有反应，随后接受了三剂英夫利昔单抗治疗。与此同时，对该患者的下一代测序显示SLCO2A1中有两个新的复合杂合突变。她被诊断为CEAS，并接受了口服巯嘌呤治疗。在随访期间，她的血红蛋白水平稳定，血清白蛋白水平略有下降。
CEAS可能表现为非特异性小肠溃疡，易被误诊为小肠克罗恩病。基因检测可能有助于小肠溃疡的精确诊断。
