Table of Contents

HK J Paediatr (New Series)
Vol 15. No. 4, 2010

HK J Paediatr (New Series) 2010;15:320-323

Case Report

Glucose Galactose Malabsorption: A Case Report
葡葡糖-半乳糖吸收不良:一例報告

M Mutlu, M Cakir, Y Aslan


Abstract

Glucose-galactose malabsorption (GGM) is a rare autosomal recessive disorder of intestinal transport of glucose and galactose, leading to watery diarrhoea, dehydration, failure to thrive, or early death. It is caused by mutations in the gene coding for the intestinal brush border of sodium-glucose co-transporter. Treatment includes the elimination of glucose and galactose from diet. We report a female newborn with suspected GGM. She presented with the classical features of the disease including severe recurrent hypernatremia. Her symptoms rapidly improved with fructose based diet.

葡葡糖-半乳糖吸收不良是一種罕見的常染色體隱性遺傳的疾病,腸道對葡葡糖和半乳糖吸收不良,導致水潟,脫水,生長遲滯或者早期死亡。它是由於腸刷狀緣轉運蛋白的基因密碼突變所導致。治療包括:給予無葡葡糖和半乳糖的飲食。我們報告1例女性新生兒,她患葡葡糖-半乳糖吸收不良且特徵典型,除此之外伴有定期重覆的高鈉血症。

Keyword : Glucose-galactose malabsorption; Hypernatremia

關鍵詞:葡葡糖-半乳糖吸收不良、高鈉血症

 
 

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