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葡萄糖半乳糖吸收不良合并佝偻病和肾性尿崩症。

Glucose Galactose Malabsorption complicated with Rickets and Nephrogenic Diabetes Insipidus.

作者信息

Al-Lawati Tawfiq, Vargees Thomas

机构信息

Division of Paediatric Gastroenterology, Department of Child Health, Royal Hospital.

出版信息

Oman Med J. 2008 Jul;23(3):197-8.

PMID:22359715
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3282316/
Abstract

Congenital Glucose Galactose malabsorption (CGGM) is a rare disorder with limited data from the Arab world. We report the first case of CGGM in Oman.B.S.A two years old female who presented with chronic osmotic diarrhea since birth with hypernatraemic dehydration. B.S was found to have Glucose Galactose Malabsorption based on clinical trial of ORS and elemental formula. Symptoms resolved on introduction of Carbohydrate free formula. The patient developed many complications while on TPN including rickets and nephrogenic diabetes insipidus. These complications have not been reported earlier in CGGM.

摘要

先天性葡萄糖半乳糖吸收不良(CGGM)是一种罕见疾病,来自阿拉伯世界的数据有限。我们报告阿曼首例CGGM病例。B.S.是一名两岁女性,自出生起就患有慢性渗透性腹泻并伴有高钠血症性脱水。根据口服补液盐(ORS)和要素配方奶粉的临床试验,发现B.S.患有葡萄糖半乳糖吸收不良。引入无碳水化合物配方奶粉后症状缓解。患者在接受全胃肠外营养(TPN)期间出现了许多并发症,包括佝偻病和肾性尿崩症。这些并发症在CGGM中此前尚未见报道。

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GLUT1 deficiency and other glucose transporter diseases.葡萄糖转运蛋白1缺乏症及其他葡萄糖转运蛋白疾病。
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Nutrition management of congenital glucose-galactose malabsorption: a case study.先天性葡萄糖-半乳糖吸收不良的营养管理:一项病例研究。
J Am Diet Assoc. 1997 Dec;97(12):1417-21. doi: 10.1016/S0002-8223(97)00342-8.
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Congenital glucose-galactose malabsorption in Arab children.阿拉伯儿童的先天性葡萄糖-半乳糖吸收不良
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