METHODS: A literature search of the PubMed, Scopus, and EBSCO databases was performed. The terms \"Diabetes Mellitus, Type 2/genetics\", \"Mason-Type Diabetes\" , \"Maturity-Onset diabetes of the young\", \"KLF11 protein, human\", and \"Maturity-Onset Diabetes of the Young, Type 7\" were used\"., \"Diagnosis\" The search selection was not standardized.
RESULTS: The KLF1 mutation is rare and represents <1% of the mutations associated with monogenic diabetes. Its isolation in European family lines in the first studies and the emergence of new variants pose new diagnostic challenges. This article reviews the definition, epidemiology, pathophysiology, diagnosis, and treatment of MODY type 7.
CONCLUSIONS: MODY type 7 diabetes represents a rare form of monogenic diabetes with incomplete penetrance. Given its rarity, its association with impaired glucose metabolism has been questioned. Strict evaluation of glycemic control and the appearance of microvascular complications are key areas in the follow-up of patients diagnosed with MODY 7. More studies will be required to characterize the population with KLF11 mutation and clarify its correlation with MODY.
方法:PubMed的文献检索,Scopus,并进行了EBSCO数据库。术语“糖尿病,类型2/遗传学\“,“梅森型糖尿病,“成熟-年轻人的糖尿病发作,\"\"KLF11蛋白,人类\”,和“年轻人的成年糖尿病,使用了“类型7”。,\"\"诊断,\"搜索选择没有标准化。
结果:KLF1突变是罕见的,占与单基因糖尿病相关的突变的<1%。在第一批研究中,它在欧洲家族中的隔离以及新变体的出现带来了新的诊断挑战。本文回顾了定义,流行病学,病理生理学,诊断,MODY型7.
结论:MODY7型糖尿病是一种罕见的单基因糖尿病,外显率不完全。鉴于其稀有性,其与葡萄糖代谢受损的相关性受到质疑.严格评估血糖控制和微血管并发症的出现是诊断为MODY7的患者随访的关键领域。需要更多的研究来表征具有KLF11突变的群体并阐明其与MODY的相关性。