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伴有严重尿布疹溃疡和婴儿炎症性肠病的白细胞介素-10受体突变

Interleukin-10 receptor mutation presenting with severe nappy ulceration and infantile inflammatory bowel disease.

作者信息

McDonald B S, Narayanan S, Elawad M, Kiparissi F, Cullup T, Batta K

机构信息

Department of Dermatology, Watford General Hospital, Watford, Hertfordshire, UK.

Department of Paediatrics, Watford General Hospital, Watford, Hertfordshire, UK.

出版信息

Clin Exp Dermatol. 2017 Oct;42(7):771-773. doi: 10.1111/ced.13157. Epub 2017 Jun 9.

DOI:10.1111/ced.13157
PMID:28597964
Abstract

Inflammatory bowel disease (IBD) can be divided into Crohn disease, ulcerative colitis and inflammatory bowel disease unclassified (IBDU). In most patients, these disorders present in adolescence or early adulthood. Patients with infantile IBD can have an associated underlying immunodeficiency disorder caused by a mutation in interleukin (IL)-10 or its receptor. We describe a child presenting with intractable bloody diarrhoea since 2 weeks of age and with severe nappy ulceration, who was ultimately diagnosed as having inflammatory bowel disease (IBD) due to an immunodeficiency in the IL-10 receptor. This report highlights the importance of considering this rare immunodeficiency in patients with infantile IBD presenting with severe perianal disease to a dermatologist.

摘要

炎症性肠病(IBD)可分为克罗恩病、溃疡性结肠炎和未分类的炎症性肠病(IBDU)。大多数患者在青春期或成年早期发病。患有婴儿型IBD的患者可能存在由白细胞介素(IL)-10或其受体突变引起的潜在免疫缺陷疾病。我们描述了一名自2周龄起就出现顽固性血性腹泻并伴有严重尿布疹溃疡的儿童,该儿童最终因IL-10受体免疫缺陷而被诊断为患有炎症性肠病(IBD)。本报告强调了对于患有严重肛周疾病的婴儿型IBD患者,皮肤科医生应考虑这种罕见免疫缺陷的重要性。

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