Desjeux J F, Wright E M
Chaire de Biologie du Conservatoire national des Arts et Métiers, Hôpital Saint-Lazare, Paris.
Ann Gastroenterol Hepatol (Paris). 1993 Oct;29(5):263-6; discussion 266-8.
Intestinal absorption of glucose plays a key role in water economy as attested by the congenital and selective glucose and galactose malabsorption which is expressed as severe watery diarrhea just after birth, leading to life-threatening dehydration. This syndrome, transmitted on an autosomal recessive mode, is the consequence of a functional defect of the glucose-sodium cotransporter at the luminal membrane of the enterocyte of the small intestine. In one family, this defect was associated with a misense mutation at position 92 of the SGLT1 gene coding for the cotransporter. The mutant RNA reproduced the transport defect after injection in xenopus oocytes. These results confirm the genetic origin of the congenital defect; in addition they indicate that the study of the relationship between phenotype and genotype of congenital defects of intestinal transport may help in the understanding of basic intestinal functions in relation with human nutrition.
葡萄糖的肠道吸收在水代谢中起关键作用，先天性和选择性葡萄糖及半乳糖吸收不良就证明了这一点。这种吸收不良在出生后即表现为严重的水样腹泻，可导致危及生命的脱水。该综合征以常染色体隐性模式遗传，是小肠肠上皮细胞腔膜上葡萄糖 - 钠协同转运蛋白功能缺陷的结果。在一个家族中，这种缺陷与编码该协同转运蛋白的SGLT1基因第92位的错义突变有关。将突变RNA注射到非洲爪蟾卵母细胞后再现了转运缺陷。这些结果证实了先天性缺陷的遗传起源；此外，它们还表明，研究肠道转运先天性缺陷的表型与基因型之间的关系可能有助于理解与人类营养相关的基本肠道功能。
