Abstract：
Monogenic diabetes caused by changes in the gene that encodes insulin (INS) is a very rare form of monogenic diabetes (<1%). The aim of this work is to describe the clinical and glycaemic control characteristics over time from four members of a family diagnosed with monogenic diabetes with the novel mutation: c.206del,p.(Gly69Aalfs*62) located in exon 3 of the gene INS. 75% are females, with debut in adolescence and negative autoimmunity. In all cases, C-peptide is detectable decades after diagnosis (>0.6ng/ml). Currently, patients are being treated either with insulin in a bolus-basal regimen, oral antidiabetics or hybrid closed loop system. Monogenic diabetes due to mutation in the INS is an entity with heterogeneous presentation, whose diagnosis requires high suspicion and presents an important clinical impact. Given the lack of standards in this regard, therapy must be individualized, although insulin therapy could help preserve beta cell functionality in these subjects.
摘要：
由编码胰岛素（INS）的基因变化引起的单基因糖尿病是一种非常罕见的单基因糖尿病（<1％）。这项工作的目的是描述一个被诊断为具有新突变的单基因糖尿病的家庭的四个成员随时间的临床和血糖控制特征：c.206del，P.(Gly69Aalfs*62)定位于INS基因的外显子3。75%是女性，在青春期和阴性自身免疫首次亮相。在所有情况下,C-肽在诊断后几十年可检测到(>0.6ng/ml)。目前,患者在推注基础方案中接受胰岛素治疗，口服抗糖尿病药或混合闭环系统。由于INS突变引起的单基因糖尿病是一个具有异质性表现的实体，其诊断需要高度怀疑，并具有重要的临床影响。鉴于这方面缺乏标准，治疗必须个体化，尽管胰岛素治疗可以帮助这些受试者保持β细胞功能。
