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早发型肉芽肿性结肠炎伴 NCF4 基因突变经造血干细胞移植治疗缓解。

Early Onset Granulomatous Colitis Associated with a Mutation in NCF4 Resolved with Hematopoietic Stem Cell Transplantation.

机构信息

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA.

Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Emory University School of Medicine, Atlanta, GA; Pediatric Institute, Children's Healthcare of Atlanta, Atlanta, GA.

出版信息

J Pediatr. 2019 Jul;210:220-225. doi: 10.1016/j.jpeds.2019.03.042. Epub 2019 Apr 23.

DOI:10.1016/j.jpeds.2019.03.042
PMID:31027832
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8415091/
Abstract

A 4-year-old boy presented with perianal abscess and granulomatous colitis, which led the diagnosis of Crohn's disease. He became refractory to all available therapies and required colectomy. Targeted sequencing revealed a deleterious variant in NCF4, causing severe neutrophil dysfunction. He underwent hematopoietic stem cell transplantation (HSCT) with an excellent outcome.

摘要

一位 4 岁男孩因肛周脓肿和肉芽肿性结肠炎就诊，随后被诊断为克罗恩病。他对所有可用的治疗均无反应，需要进行结肠切除术。靶向测序显示 NCF4 中的一个有害变异，导致严重的中性粒细胞功能障碍。他接受了造血干细胞移植（HSCT），效果极佳。

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