Edinburgh Centre for Endocrinology and Diabetes, Edinburgh, UK; Centre for Cardiovascular Science, University of Edinburgh, Edinburgh, UK; Royal Centre of Defence Medicine, Birmingham, UK.
St John's Hospital, Livingston, UK.
J R Coll Physicians Edinb. 2021 Sep;51(3):266-268. doi: 10.4997/JRCPE.2021.312.
Mutations in the HNF4A gene are associated with hyperinsulinaemic hypoglycaemia in infants, frequently evolving into relative deficiency of insulin in adulthood ---as maturity onset diabetes of the young (MODY). A 69-year-old male with a strong family history of adult-onset diabetes was referred with lifelong hypoglycaemia, found to be due to a pathogenic HNF4A mutation. HbA1c levels were low, continuous glucose monitoring demonstrated frequent low glucose events in the early morning, and he was successfully treated with diazoxide. This case represents a new phenotype of a known mutation associated more commonly with MODY. The same mutation in one family led to profoundly different manifestations. Genetic causes of hyperinsulinaemic hypoglycaemia can present late in life and identifying such cases is important to allow the correct treatment to be established.
HNF4A 基因突变与婴儿期高胰岛素血症性低血糖有关，成年后常发展为相对胰岛素缺乏症，即青少年起病的成年型糖尿病（MODY）。一位 69 岁男性，有强烈的成年起病糖尿病家族史，因终生低血糖就诊，发现其发病归因于致病性 HNF4A 突变。糖化血红蛋白（HbA1c）水平较低，连续血糖监测显示清晨常发生低血糖事件，他成功地接受了二氮嗪治疗。该病例代表了与 MODY 更常见相关的已知突变的新表型。同一突变在一个家族中导致了截然不同的表现。高胰岛素血症性低血糖的遗传病因可在晚年出现，识别此类病例非常重要，可确保正确的治疗。
