在一名携带P291fsinsC突变的突尼斯HNF1A - MODY患者中成功从胰岛素转换为口服磺脲类药物治疗。
Successful switch from insulin to oral sulfonylurea therapy in HNF1A-MODY Tunisian patient with the P291fsinsC mutation.
作者信息
Khelifa Souhaïra Ben, Dendana Azza, Barboura Ilhem, Khochtali Ines, Chahed Hinda, Ferchichi Selima, Miled Abdelhedi
机构信息
Biochemistry Laboratory, CHU Farhat Hached, Sousse 4000, Tunisia.
Endocrinology Unit, University Hospital of Monastir, Monastir 5000, Tunisia.
出版信息
Diabetes Res Clin Pract. 2016 May;115:133-6. doi: 10.1016/j.diabres.2016.01.015. Epub 2016 Jan 16.
Abstract
The hot spot mutation P291fsinsC was identified for the first time in a 26 years old Tunisian woman. The low serum level of high C-reactive protein was helpful to target the HNF1A gene. Due to the molecular diagnosis, the change from insulin to sulfonylurea therapy was performed successfully.
摘要
首次在一名26岁的突尼斯女性中发现热点突变P291fsinsC。高C反应蛋白的低血清水平有助于靶向HNF1A基因。由于分子诊断，成功地从胰岛素治疗改为磺脲类药物治疗。
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