Pediatric Endocrine and Diabetes Unit, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.
Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.
Curr Diab Rep. 2022 Sep;22(9):423-432. doi: 10.1007/s11892-022-01483-y. Epub 2022 Jul 5.
This review aims to provide an update on the etiologies of diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision and to compare them. The potential mechanisms, including novel treatments, will be detailed.
Wolfram syndrome, Kearns-Sayre syndrome, thiamine-responsive megaloblastic anemia, and maternally inherited diabetes and deafness are genetic disorders characterized by diabetes, impaired hearing, and vision. They differ in mode of inheritance, age at presentation, and the involvement of other organs; they are often misdiagnosed as type 1 or type 2 diabetes. Suspicion of a genetic diabetes syndrome should be raised when pancreatic autoantibodies are negative, other organs are involved, and family history includes diabetes. Correct diagnosis of the various syndromes is important for tailoring the most advanced treatment, preventing disease progression, and enabling proper genetic counseling.
本综述旨在提供有关遗传疾病引起的糖尿病病因的最新信息，这些疾病与听力或视力受损同时发生，并对其进行比较。将详细介绍潜在的机制，包括新的治疗方法。
Wolfram 综合征、Kearns-Sayre 综合征、硫胺素反应性巨幼细胞性贫血和母系遗传性糖尿病和耳聋是由糖尿病、听力和视力受损引起的遗传疾病。它们在遗传模式、发病年龄和涉及的其他器官方面存在差异；它们经常被误诊为 1 型或 2 型糖尿病。当胰腺自身抗体阴性、其他器官受累且家族史中包括糖尿病时，应怀疑存在遗传糖尿病综合征。正确诊断各种综合征对于定制最先进的治疗方案、预防疾病进展和进行适当的遗传咨询非常重要。
