Department of Ophthalmology, Necker-Enfants Malades Hospital, Hôpitaux de Paris, University René Descartes-Paris V, France.
Am J Ophthalmol. 2010 Jul;150(1):116-121.e1. doi: 10.1016/j.ajo.2010.01.034. Epub 2010 May 5.
To study the value of conjunctival biopsy in congenital tufting enteropathy diagnosis.
Case-comparative study.
Between January 2000 and June 2007, all children seeking treatment with an early onset of intractable diarrhea were examined in the ophthalmology department of Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, France. Children underwent complete ophthalmologic examination with concurrent conjunctival and intestinal biopsies. Main outcome measures were age at diagnosis, associated disorders, parenteral nutrition, and ophthalmologic symptoms. Conjunctival biopsies support diagnosis in the presence of specific alteration.
Twenty patients were included. The mean age of the population was 30.2 months. Congenital tufting enteropathy was diagnosed in 15 cases. In the congenital tufting enteropathy group, 10 children exhibited ophthalmic functional disorders since the first months of life, with superficial punctate keratitis and conjunctivitis and in addition alacrima and cataract in 1 case, respectively, whereas 5 children had asymptomatic conjunctival hyperemia at presentation. Conjunctival biopsies showed epithelial parakeratosis, hyperplasia, basal cells hyperplasia, and tufts. In some cases, the lamina propria contained inflammatory cells or fibrosis, and the density of goblet cells then was abnormal. In the comparison group of 5 children with early-onset intractable diarrhea but without congenital tufting enteropathy diagnosis, no tuft occurrence was observed.
In cases of intractable diarrhea in infancy, even without ocular symptoms, a systematic ophthalmologic examination should be performed. It also should be associated with the pathologic examination of both the conjunctival and the intestine mucosae, which helps to diagnose congenital tufting enteropathy (adhesion molecules disease). Specific conjunctival findings allow affirmation of congenital tufting enteropathy before the genetic confirmation of an EpCAM gene mutation.
研究结膜活检在先天性簇状肠病诊断中的价值。
病例对照研究。
2000 年 1 月至 2007 年 6 月期间，所有因早期难治性腹泻就诊于法国巴黎公共救助医院 Necker-Enfants Malades 医院眼科的患儿均接受了检查。患儿接受了全面的眼科检查，同时进行结膜和肠道活检。主要观察指标为诊断时的年龄、伴发疾病、肠外营养和眼部症状。在存在特定改变的情况下，结膜活检有助于诊断。
20 例患儿入选。人群的平均年龄为 30.2 个月。15 例诊断为先天性簇状肠病。在先天性簇状肠病组中，10 例患儿在生命最初几个月就出现眼部功能障碍，表现为浅层点状角膜炎和结膜炎，1 例患儿还分别出现溢泪和白内障，5 例患儿在就诊时表现为无症状性结膜充血。结膜活检显示上皮角化不良、增生、基底细胞增生和簇状。在一些病例中，固有层含有炎症细胞或纤维化，杯状细胞密度异常。在另一组 5 例早期难治性腹泻但无先天性簇状肠病诊断的患儿中，未观察到簇状发生。
在婴儿期难治性腹泻的情况下，即使没有眼部症状，也应进行系统的眼科检查。还应结合结膜和肠道黏膜的病理检查，这有助于诊断先天性簇状肠病（黏附分子病）。特定的结膜发现可在 EpCAM 基因突变的遗传确认之前，确认先天性簇状肠病。
