Murphy R, Turnbull D M, Walker M, Hattersley A T
Institute of Biomedical Sciences, Peninsula Medical School, Exeter, UK.
Diabet Med. 2008 Apr;25(4):383-99. doi: 10.1111/j.1464-5491.2008.02359.x. Epub 2008 Feb 18.
Maternally inherited diabetes and deafness (MIDD) affects up to 1% of patients with diabetes but is often unrecognized by physicians. It is important to make an accurate genetic diagnosis, as there are implications for clinical investigation, diagnosis, management and genetic counselling. This review summarizes the range of clinical phenotypes associated with MIDD; outlines the advances in genetic diagnosis and pathogenesis of MIDD; summarizes the published prevalence data and provides guidance on the clinical management of these patients and their families.
母系遗传的糖尿病和耳聋（MIDD）影响着多达1%的糖尿病患者，但医生往往对此认识不足。进行准确的基因诊断很重要，因为这对临床研究、诊断、管理和遗传咨询都有影响。本综述总结了与MIDD相关的一系列临床表型；概述了MIDD基因诊断和发病机制的进展；总结了已发表的患病率数据，并为这些患者及其家庭的临床管理提供指导。
