Failure to thrive and intestinal diseases in congenital disorders of glycosylation
Failure to thrive and intestinal diseases in congenital disorders of glycosylation
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DOI：
10.1016/s0929-693x(03)00278-1
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发表时间：
2003-07-01
影响因子：
1.8
通讯作者：
Cézard, JP
中科院分区：
文献类型：
--
作者：
Boyer, MZ;de Lonlay, P;Cézard, JP
先天性糖基化I型疾病（GDG-I）是一类以糖蛋白糖基化缺陷为特征的遗传性多系统疾病。CDG-I中存在的生长障碍和肠道疾病的特征和机制是不确定的。患者和方法。- 本研究的目的是分析7例具有重要消化道症状和发育不良的CDG-I（4例CDG-Ia，2例CDG-Ib和1例CDG-IX），以阐明其可能的机制。- 4例儿童无皮肤异常或畸形（CDG-la 1例、CDG-lb 2例、CDG-lx 1例）。仅在4例CDG-la中存在伴有小脑发育不全的脑病。在所有患者中，6名患者在出生后第一个月出现发育不良和腹泻，1名患者在5岁时出现与轻度或重度肝病相关的CDG-la。1例CDG-la、1例CDG-lb、1例CDG-lx有渗出性肠病。3例患者存在阳性脂肪酶。5例患者小肠活检异常。abstract变量：2例绒毛膜中度炎症，无绒毛萎缩，2例肠细胞内脂肪积聚，无绒毛萎缩，1例部分绒毛萎缩伴淋巴管扩张。2例CDG-la肠活检正常。4例肠内营养有效，2例肠外营养有效，1例渗出性肠病对游离脂肪饮食（CDG-lx）有反应。- 消化道症状与未能茁壮成长是CDG-I的共同特征，可能是第一个症状。肠道症状的发生机制是多种多样的，如炎症、肠上皮细胞脂质转运异常或与肠粘膜糖蛋白异常糖基化相关的肠通透性异常。(C)2003年，Elsevier SAS科学与医学版。图斯所有权保留。
Congenital disorders of glycosylation type I (GDG-I) is a class of genetic multisystem disorders characterised by defective glycosylation of glycoproteins. The characteristics and mechanisms of failure to thrive and intestinal diseases present in CDG-I are anectodal. Patients and methods. - The aim of this study was to analyse 7 CDG-I (4 CDG-Ia, 2 CDG-Ib and I CDG-Ix) with important digestive symptoms and failure to thrive in order to characterise the mechanisms implied.Results. - Four children had no skin abnormality or dysmorphia (1 CDG-la, 2 CDG-Ib, 1 CDG-lx). An encephalopathy with cerebellar hypoplasia was present only in the 4 CDG-la. Failure to thrive and diarrhea were present during the first month of life in 6 and appeared at 5 years in one CDG-la associated to mild or severe hepatopathy in all patients. One CDG-la, 1 CDG-lb, 1 CDG-lx had an exsudative enteropathy. A positive steatorrhea was present in 3 patients. Five patients had an abnormal small bowel biopsy. Abnormalities were variable: moderate inflammation of the chorion without villous atrophy in 2, intra-enterocyte fat accumulation without villous atrophy in 2, and partial villous atrophy with lymphangectasia in 1. In 2 CDG-la the intestinal biopsy was normal. Enteral nutrition in 4 and parenteral nutrition in 2 were effective in 4 patients and 1 patient with an exsudative enteropathy respond to a free fat diet (CDG-lx).Conclusion. - The digestive symptoms with failure to thrive is a common feature of CDG-I and could be the first symptoms. The diagnostic should be suspected if no other cause is found. Mechanisms of the intestinal symptoms appear to be multiple such as inflammation, abnormal enterocyte lipid transport or intestinal permeability related to the abnormal glycosylation of intestinal mucosa glycoproteins. (C) 2003 Editions scientifiques et medicales Elsevier SAS. Tous droits reserves.