[儿童SLCO2A1基因相关性慢性肠病3例]。

Zhonghua er ke za zhi = Chinese journal of pediatrics Pub Date : 2023-09-02 DOI:10.3760/cma.j.cn112140-20230305-00160

W H Lin, F F Wang, J Xie, L Ren, Y N Han, L N Sun, P Y Chen, S T Gong, Y Fang, L L Geng

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[Three cases of chronic enteropathy associated with SLCO2A1 gene in children].

例1及例2均因“面色苍白伴腹痛”就诊，例3因“腹痛伴粪隐血阳性”就诊。3例患儿均有腹痛、贫血、低蛋白血症，C反应蛋白及红细胞沉降率正常，内镜检查提示小肠多发环形溃疡并狭窄，其中2例手术病理示溃疡仅累及黏膜层及黏膜下层，3例均行全外显子测序示SLCO2A1纯合突变或复合杂合突变，均诊断SLCO2A1基因相关慢性肠病。3例患儿均予补铁治疗。除例1对糖皮质激素治疗依赖、对阿达木单抗治疗部分有效外，其他治疗炎症性肠病的常规药物对3例患儿均无效。例2对洗涤菌群移植治疗有效。.

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Zhonghua er ke za zhi = Chinese journal of pediatrics

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