Soylu Ozlem Bekem, Ecevit Ciğdem, Altinöz Serdar, Oztürk Aysel Aydoğan, Temizkan Ali Kemal, Maeda Mari, Kasahara Michihiro
Department of Pediatrics, Dr. Behçet Uz Children's Hospital, Izmir, Turkey.
Eur J Pediatr. 2008 Dec;167(12):1395-8. doi: 10.1007/s00431-008-0681-6. Epub 2008 Feb 21.
We report an association of proximal renal tubular dysfunction in a 50-day-old girl with glucose-galactose malabsorption who was found to have nephrocalcinosis, but no sign of nephrolithiasis. A novel homozygous nonsense mutation at 267Arg-->stop (CGA-->TGA) in the Na(+)-dependent glucose transporter (SGLT1) was found in loop 5 connecting transmembrane segments 6 and 7, indicating the complete loss of glucose transport activity. This case indicates that hypercalcaemia, nephrocalcinosis and proximal tubular dysfunction may be seen in association with glucose-galactose malabsorption and that most of these abnormalities improve with a glucose-galactose-free diet.
我们报告了一名50日龄患有葡萄糖-半乳糖吸收不良的女孩出现近端肾小管功能障碍，她被发现患有肾钙质沉着症，但无肾结石迹象。在连接跨膜片段6和7的第5环中发现了钠依赖性葡萄糖转运体（SGLT1）的一个新的纯合无义突变，即267Arg→终止密码子（CGA→TGA），这表明葡萄糖转运活性完全丧失。该病例表明，高钙血症、肾钙质沉着症和近端肾小管功能障碍可能与葡萄糖-半乳糖吸收不良有关，并且这些异常中的大多数通过无葡萄糖-半乳糖饮食可得到改善。
