Gussinyer Miquel, Clemente María, Cebrián Rocio, Yeste Diego, Albisu Marian, Carrascosa Antonio
Pediatric Endocrine Service, Children's Hospital Vall d'Hebron, Autonomous University and El Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain.
Diabetes Care. 2008 Jun;31(6):1257-9. doi: 10.2337/dc07-2059. Epub 2008 Mar 13.
To report the long-term follow-up of three nonpancreatectomized patients with persistent hyperinsulinemic hypoglycemia of infancy due to mutations in the ABCC8 gene.
Oral glucose tolerance test (OGTT) and venous 24-h glucose-insulin profile were performed yearly from adolescence.
Patient 1 (now aged 31 years) developed insulin-dependent diabetes at the age of 25 years. In patient 2 (now aged 17 years), impaired fasting glucose and a diabetic OGTT response with normal A1C values have been observed since the age of 10 years. In patient 3 (now aged 24 years), intolerant OGTT response and hyperglycemic episodes with normal A1C have been observed since the age of 16 years. All patients presented relatively low insulin levels during hyperglycemia, normal BMI, and negative autoantibodies (GAD antibody, insulinoma-associated protein 2, and islet cell antibody).
Development of glucose metabolism impairment ranging from glucose intolerance to insulin-dependent diabetes is observed in the evolution of these patients.
报告3例因ABCC8基因突变导致婴儿持续性高胰岛素血症性低血糖症且未行胰腺切除术患者的长期随访情况。
从青春期开始每年进行口服葡萄糖耐量试验（OGTT）和静脉24小时葡萄糖-胰岛素谱检测。
患者1（现31岁）在25岁时发展为胰岛素依赖型糖尿病。患者2（现17岁）自10岁起出现空腹血糖受损以及糖尿病性OGTT反应，糖化血红蛋白（A1C）值正常。患者3（现24岁）自16岁起出现不耐受的OGTT反应和高血糖发作，A1C正常。所有患者在高血糖期间胰岛素水平相对较低，体重指数（BMI）正常，自身抗体（谷氨酸脱羧酶抗体、胰岛素瘤相关蛋白2和胰岛细胞抗体）均为阴性。
在这些患者的病程中观察到了从葡萄糖不耐受到胰岛素依赖型糖尿病的糖代谢损害进展。
