关键词: Anemia Child Duodenal ulcer Prostaglandin E urinary metabolites

Mesh : Child Humans Ulcer Helicobacter Infections Helicobacter pylori / metabolism Duodenum Inflammatory Bowel Diseases Organic Anion Transporters / genetics metabolism

来  源:   DOI:10.1007/s12328-023-01912-9

Abstract:
We report the case of twins diagnosed with chronic enteropathy associated with the SLCO2A1 gene (CEAS) based on characteristic ulcer findings, which required 8 years to diagnose. Both twins had similar symptoms, including anemia and growth failure but the gastrointestinal tract was not evaluated initially because of mild symptoms that were considered consistent with psychological etiology. The endoscopic findings of the firstborn child showed spiral ulcer scars and pseudodiverticulum formation without Helicobacter pylori infection or eosinophilic infiltration in the duodenum. Since the twins presented with ulcers of an unknown cause simultaneously and the first-born child had a spiral ulcer, CEAS was suspected. Genetic analysis and high levels of prostaglandin E major urinary metabolites in the urine led to a definitive diagnosis of CEAS.
摘要:
我们报告了根据特征性溃疡发现诊断为与SLCO2A1基因(CEAS)相关的慢性肠病的双胞胎病例。这需要8年的时间来诊断。两个双胞胎都有相似的症状,包括贫血和生长障碍,但由于轻度症状被认为与心理病因一致,最初未对胃肠道进行评估。长子的内窥镜检查结果显示,螺旋溃疡疤痕和假憩室形成,十二指肠中没有幽门螺杆菌感染或嗜酸性粒细胞浸润。由于这对双胞胎同时出现不明原因的溃疡,并且第一个出生的孩子患有螺旋状溃疡,CEAS被怀疑。遗传分析和尿液中高水平的前列腺素E主要尿代谢产物导致CEAS的明确诊断。
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