Endocrinology Department, Universidad Militar Nueva Granada, Bogota, Colombia.
Endocronology Department, Hospital Militar Central, Bogota, Colombia.
Curr Diabetes Rev. 2024;20(1):e210323214817. doi: 10.2174/1573399819666230321114456.
Maturity-onset diabetes of the young (MODY) is a rare disease due to a single gene mutation that affects several family members in most cases. The Krüppel-like factor 11 (KLF11) gene mutation is associated with decreased insulin sensitivity to high glucose levels. KLF 11 has been implicated in the pathogenesis of MODY type 7 but given its low prevalence, prolonged subclinical period, and the emergence of new information, doubts are raised about its association.
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.
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.
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.
青年发病的成年型糖尿病（MODY）是一种罕见疾病，由单一基因突变引起，在大多数情况下会影响多个家族成员。Krüppel 样因子 11（KLF11）基因突变与高血糖水平下胰岛素敏感性降低有关。KLF11 已被认为与 MODY 7 型的发病机制有关，但由于其患病率低、亚临床期长以及新信息的出现，对其相关性存在质疑。
对 PubMed、Scopus 和 EBSCO 数据库进行文献检索。使用的术语为“Diabetes Mellitus, Type 2/genetics”、“Mason-Type Diabetes”、“Maturity-Onset diabetes of the young”、“KLF11 protein, human”和“Maturity-Onset Diabetes of the Young, Type 7”、“Diagnosis”。搜索选择未标准化。
KLF1 突变很罕见，<1%的单基因突变糖尿病与 KLF1 突变有关。其在欧洲家族系中的首次研究中被分离出来，以及新变体的出现，带来了新的诊断挑战。本文回顾了 MODY 7 型的定义、流行病学、病理生理学、诊断和治疗。
MODY 7 型糖尿病是一种罕见的单基因糖尿病形式，不完全外显。由于其罕见性，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 MODY 7 型的患者随访的关键领域。需要更多的研究来描述 KLF11 突变人群，并阐明其与 MODY 的相关性。
