婴儿自身免疫性肠病的顽固性腹泻：病例报告

JPGN Reports Pub Date : 2023-12-27 DOI:10.1002/jpr3.12038

Shivangi Tetarbe, Kasvi Shah, Ira Shah

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引用次数: 0

摘要

自身免疫性肠病是导致慢性顽固性腹泻的罕见病因，婴儿发病率不到十万分之一。我们报告了一例 9 个月大的男婴，他出现了难治性腹泻和呕吐。基因组检测显示，STAT3 第 6 外显子存在杂合突变，这表明该病为婴儿型多系统自身免疫病-1。患者最初接受了类固醇和柳氮磺胺吡啶治疗。然而，在减少类固醇用量后，他再次出现腹泻，随后又服用了巴利替尼，并对该药产生了反应。

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Intractable diarrhea in an infant—autoimmune enteropathy: A case report

Autoimmune enteropathy is a rare cause of chronic intractable diarrhea and is present in <1 in 100,000 infants. We report the case of a 9‐month‐old boy who presented with intractable diarrhea and vomiting. Genetic panel testing revealed a STAT3 heterozygous mutation in exon 6, suggesting infantile‐onset multisystem autoimmune disease‐1. The patient was initially treated with steroids and sulfasalazine. However, on tapering steroids, he had another episode of diarrhea and was subsequently put on baricitinib to which he responded.

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JPGN Reports

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