Garrahy Aoife, Mijares Zamuner Matilde Bettina, Byrne Maria M
Department of Diabetes and Endocrinology, Mater Misericordiae University Hospital, Dublin 7, Ireland.
Endocrinol Diabetes Metab Case Rep. 2019 Jan 3;2019. doi: 10.1530/EDM-18-0145.
Coexistence of autoimmune diabetes and maturity-onset diabetes of the young (MODY) is rare. We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and glucokinase (GCK) MODY. A 32-year-old woman was treated with insulin for gestational diabetes at age 32 years; post-partum, her fasting blood glucose was 6.0 mmol/L and 2-h glucose was 11.8 mmol/L following an oral glucose tolerance test, and she was maintained on diet alone. Five years later, a diagnosis of LADA was made when she presented with fasting blood glucose of 20.3 mmol/L and HbA1C 125 mmol/mol (13.6%). GCK-MODY was identified 14 years later when genetic testing was prompted by identification of a mutation in her cousin. Despite multiple daily insulin injections her glycaemic control remained above target and her clinical course has been complicated by multiple episodes of hypoglycaemia with unawareness. Although rare, coexistence of latent autoimmune diabetes of adulthood and monogenic diabetes should be considered if there is a strong clinical suspicion, for example, family history. Hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA. This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA. Learning points: We report the first case of coexisting latent autoimmune diabetes of adulthood (LADA) and GCK-MODY. It has been suggested that mutations in GCK may lead to altered counter-regulation and recognition of hypoglycaemia at higher blood glucose levels than patients without such mutation. However, in our case, hypoglycaemic unawareness developed secondary to frequent episodes of hypoglycaemia using standard glycaemic targets for LADA. This case highlights the importance of setting fasting glucose targets within the expected range for GCK-MODY in subjects with coexisting LADA to avoid hypoglycaemia.
自身免疫性糖尿病与青年发病的成年型糖尿病(MODY)并存的情况较为罕见。我们报告了首例成年隐匿性自身免疫性糖尿病(LADA)与葡萄糖激酶(GCK)-MODY并存的病例。一名32岁女性在32岁时因妊娠期糖尿病接受胰岛素治疗;产后,口服葡萄糖耐量试验后其空腹血糖为6.0 mmol/L,2小时血糖为11.8 mmol/L,之后仅通过饮食维持。五年后,她因空腹血糖20.3 mmol/L和糖化血红蛋白(HbA1C)125 mmol/mol(13.6%)而被诊断为LADA。14年后,由于其表妹被发现有突变而促使进行基因检测,从而确诊为GCK-MODY。尽管她每天多次注射胰岛素,但其血糖控制仍高于目标水平,并且其临床病程因多次无感知低血糖发作而复杂化。尽管罕见,但如果临床高度怀疑,例如有家族史,应考虑成年隐匿性自身免疫性糖尿病与单基因糖尿病并存的情况。使用LADA的标准血糖目标时,频繁低血糖发作继发了低血糖无感知。该病例强调了在并存LADA的患者中,将空腹血糖目标设定在GCK-MODY预期范围内的重要性。学习要点:我们报告了首例成年隐匿性自身免疫性糖尿病(LADA)与GCK-MODY并存的病例。有人提出,与没有这种突变的患者相比,GCK突变可能导致在更高血糖水平时低血糖反调节和识别改变。然而,在我们的病例中,使用LADA的标准血糖目标时,频繁低血糖发作继发了低血糖无感知。该病例强调了在并存LADA的患者中,将空腹血糖目标设定在GCK-MODY预期范围内以避免低血糖的重要性。