Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotyp...Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotype.CASE SUMMARYThe proband developed diabetes at the age of 27 years, despite having a normalbody mass index (BMI). She exhibited partial impairment of islet function, testedpositive for islet antibodies, and required high doses of insulin. Her sister alsocarried the c.4G>A (p.Ala2Thr) mutation, and their mother was stronglysuspected to carry the mutated gene. Her sister developed diabetes around 40years of age and required high doses of insulin, while the mother was diagnosedin her 20s and was managed with oral hypoglycemic agents;neither of them wereobese.CONCLUSION p.Ala2Thr mutation carriers often experience relatively later onset and normalBMI. Treatment regimens vary between individuals.展开更多
基金National Natural Science Foundation of China,No.82270881.
文摘Maturity-onset diabetes of the young 10 caused by the c.4G>A (p.Ala2Thr)mutation is extremely rare, with only two reported studies to date. Herein, wereport another case that differs from previous cases in phenotype.CASE SUMMARYThe proband developed diabetes at the age of 27 years, despite having a normalbody mass index (BMI). She exhibited partial impairment of islet function, testedpositive for islet antibodies, and required high doses of insulin. Her sister alsocarried the c.4G>A (p.Ala2Thr) mutation, and their mother was stronglysuspected to carry the mutated gene. Her sister developed diabetes around 40years of age and required high doses of insulin, while the mother was diagnosedin her 20s and was managed with oral hypoglycemic agents;neither of them wereobese.CONCLUSION p.Ala2Thr mutation carriers often experience relatively later onset and normalBMI. Treatment regimens vary between individuals.
