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婴儿自身免疫性肠病中的难治性腹泻:一例报告。

Intractable diarrhea in an infant-autoimmune enteropathy: A case report.

作者信息

Tetarbe Shivangi, Shah Kasvi, Shah Ira

机构信息

Department of Pediatric Gastroenterology and Hepatology B J Wadia Hospital for Children Mumbai India.

Seth G S Medical College Mumbai India.

出版信息

JPGN Rep. 2023 Dec 27;5(1):70-73. doi: 10.1002/jpr3.12038. eCollection 2024 Feb.

Abstract

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.

摘要

自身免疫性肠病是慢性顽固性腹泻的罕见病因,在每10万名婴儿中发病率不到1例。我们报告了一名9个月大男婴的病例,该患儿出现顽固性腹泻和呕吐。基因检测显示第6外显子存在STAT3杂合突变,提示为婴儿期起病的多系统自身免疫性疾病-1。该患者最初接受类固醇和柳氮磺胺吡啶治疗。然而,在逐渐减少类固醇用量时,他再次出现腹泻,随后开始使用巴瑞替尼治疗,治疗后有反应。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5641/10964334/b3e0d4988c1c/JPR3-5-70-g002.jpg

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