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在英国,青少年起病的成人型糖尿病(MODY)占糖尿病的1%～2%,但是它经常被误诊为1型糖尿病。应用分子遗传学试验鉴别出MODY的不同亚型是非常重要的,因为这可以指导治疗。比如,HNF1A型的MODY患者通常对磺脲类药物的降糖作用非常敏感。这类患者用磺脲类药物来治疗可以获得更好的血糖控制和生活质量的改善(Shepherd等,2003;Shepherd与Hattersley,2004)。本文提供的数据来自对一个18岁男性和他母亲的深度随访的定性研究,前者在16岁时被误诊为1型糖尿病,后者被诊断为2型糖尿病。反复产生低血糖症状的诱因,分子遗传学检的测结果以及治疗的变更均由其家人提供。非遗传学在鉴别诊断中的应用和与健康护理人员有关的误诊因素在本文中一并讨论。
In the United Kingdom, adolescent onset adult-onset diabetes (MODY) accounts for 1% to 2% of diabetes, but it is often misdiagnosed as type 1 diabetes. It is important to identify different subtypes of MODY using molecular genetic tests as this can guide therapy. For example, MODY patients with HNF1A are usually very sensitive to the hypoglycemic effect of sulfonylureas. Treatment with sulfonylureas in these patients leads to better glycemic control and improved quality of life (Shepherd et al., 2003; Shepherd and Hattersley, 2004). This article provides data from a qualitative study of the depth follow-up of an 18-year-old male and his mother who was misdiagnosed as type 1 diabetes at age 16 and who was diagnosed with type 2 diabetes. Causes of recurrent hypoglycemic symptoms, results of molecular genetic tests, and treatment changes are provided by their families. The application of non-genetics in differential diagnosis and misdiagnosis factors related to health care workers are discussed in this paper.