Sanderson I R, Risdon R A, Walker-Smith J A
Academic Department of Paediatric Gastroenterology, Queen Elizabeth Hospital for Children, London.
Arch Dis Child. 1991 Mar;66(3):295-9. doi: 10.1136/adc.66.3.295.
Five children (three boys, two girls) presenting in the first year of life with intractable diarrhoea had a number of features in common. All had ulcerating stomatitis, four had partial villous atrophy on small intestinal biopsy, all had colitis characterised by large ulcers with overhanging edges, and four had severe perianal disease; no stool pathogens were detected. Treatment with steroids, sulphasalazine, and azathioprine was unsuccessful. All five required subtotal colectomy. Four were children of consanguinous marriages, two were siblings of Pakistani origin, two were cousins of Arab origin, and the fifth was Portuguese. Although the diagnoses of Behçet's disease and Crohn's disease were considered, it appears that these children represent a distinct inherited condition affecting the whole gastrointestinal tract, particularly the colon.
五名在出生后第一年出现顽固性腹泻的儿童(三名男孩,两名女孩)有许多共同特征。他们均患有溃疡性口腔炎,四名儿童经小肠活检显示有部分绒毛萎缩,所有人均患有以边缘悬垂的大溃疡为特征的结肠炎,四名儿童有严重的肛周疾病;未检测到粪便病原体。使用类固醇、柳氮磺胺吡啶和硫唑嘌呤治疗均未成功。所有五名儿童均需要进行结肠次全切除术。其中四名儿童的父母为近亲结婚,两名是巴基斯坦裔的兄弟姐妹,两名是阿拉伯裔的表亲,第五名是葡萄牙裔。尽管考虑过白塞病和克罗恩病的诊断,但这些儿童似乎代表了一种影响整个胃肠道尤其是结肠的独特遗传性疾病。