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[患有黏液黏稠病患者的小肠]

[The small intestines in patients with mucoviscidosis].

作者信息

Eggermont E

机构信息

Faculteit Geneeskunde, Departement Ontwikkelingsbiologie, Katholieke Universiteit Leuven.

出版信息

Verh K Acad Geneeskd Belg. 1993;55(2):151-61; discussion 161-2.

PMID:7683164
Abstract

Cystic fibrosis (CF) is a common inherited multisystem disorder characterized by chronic obstruction and infection of airways and by maldigestion secondary to pancreatic insufficiency. The diagnosis is based on the high content of chloride in the sweat (60 mEq/l). CF is inherited as an autosomal recessive trait localized to the long arm of chromosome 7. The CF gene codes for a long 170 kDa protein, the CF transmembrane regulator (CFTR). Up to now, more than 200 mutations have been described. The basis defect is also expressed in the apical membrane of the enterocytes, especially in the secretory cells tentatively localized in the transition zone between villi and crypts. However, the intestinal manifestations of CF are more complex than just the alterations in the CFTR protein responsible for the chloride transport. Therefore, the mechanism of meconium ileus in the fetus and the newborn infant, of the duodenal acidification, of the increased permeability of a number of substances taken up by the paracellular route, of the digestive and absorptive functions of the enterocytes and of the distal intestinal obstruction syndrome is discussed.

摘要

囊性纤维化(CF)是一种常见的遗传性多系统疾病,其特征为气道的慢性阻塞和感染以及继发于胰腺功能不全的消化功能不良。诊断基于汗液中高含量的氯化物(60 mEq/l)。CF以常染色体隐性性状遗传,定位于7号染色体长臂。CF基因编码一种长170 kDa的蛋白质,即CF跨膜调节因子(CFTR)。到目前为止,已描述了200多种突变。基本缺陷也表现在肠上皮细胞的顶端膜中,特别是在暂时定位于绒毛和隐窝之间过渡区的分泌细胞中。然而,CF的肠道表现比仅负责氯化物转运的CFTR蛋白改变更为复杂。因此,本文讨论了胎儿和新生儿胎粪性肠梗阻、十二指肠酸化、多种经细胞旁途径摄取物质的通透性增加、肠上皮细胞的消化和吸收功能以及远端肠梗阻综合征的机制。

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