Tetarbe Shivangi, Shah Kasvi, Shah Ira
Department of Pediatric Gastroenterology and Hepatology B J Wadia Hospital for Children Mumbai India.
Seth G S Medical College Mumbai India.
JPGN Rep. 2023 Dec 27;5(1):70-73. doi: 10.1002/jpr3.12038. eCollection 2024 Feb.
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.
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。