进一步证明,INS的突变可以是年轻的成年糖尿病的罕见原因(们)。
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Andersson EA Boesgaard TW, Pruhova年代,Cinek O, Obermannova B, Lauenborg J,达姆P, Bergholdt R, Pociot F, Pisinger C, Barbetti F, Lebl J,皮德森O,汉森T
进一步证明,INS的突变可以是年轻的成年糖尿病的罕见原因(们)。
BMC医学麝猫。2010年3月12日11:42。doi: 10.1186 / 1471-2350-11-42。
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20226046 (在PubMed]
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背景:胰岛素(INS)基因突变最近被描述为永久性新生儿糖尿病的常见原因(PNDM)和糖尿病诊断的罕见原因童年和成年。方法:INS测序116年年轻的成年糖尿病(MODYX)患者(n = 48丹麦和n = 68捷克),83例妊娠期糖尿病(GDM), 34个1型糖尿病患者筛查阴性谷氨酸脱羧酶(GAD),和96年葡萄糖宽容的人。对照组人群抽样Inter99研究是随机选择的。结果:一部小说杂合的突变c。17 g >, R6H,被pre-proinsulin基因(INS)丹麦MODYX家庭。的渊源者在20岁被诊断为轻度糖尿病和治疗饮食和口腔那些潜在的代理。另外两个家庭成员把INS R6H被诊断出患有糖尿病51岁时和GDM 27岁时,分别。第四个突变载体20岁时葡萄糖耐量正常。两艘航母的INS R6H也检查两次,口服葡萄糖耐量试验(OGTT)和5年的时间间隔。他们都有一个减少约30%β细胞功能insulinogenic指数来衡量。 In a Czech MODYX family a previously described R46Q mutation was found. The proband was diagnosed at 13 years of age and had been treated with insulin since onset of diabetes. Her mother and grandmother were diagnosed at 14 and 35 years of age, respectively, and were treated with oral hypoglycaemic agents and/or insulin. CONCLUSION: Mutations in INS can be a rare cause of MODY and we conclude that screening for mutations in INS should be recommended in MODYX patients.