Mory Patricia B, Santos Marcia C dos, Kater Claudio E, Moisés Regina S
Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, SP, Brazil.
Arq Bras Endocrinol Metabol. 2012 Nov;56(8):574-7. doi: 10.1590/s0004-27302012000800019.
Maternally-inherited diabetes with deafness (MIDD) is a rare form of monogenic diabetes that results, in most cases, from an A-to-G transition at position 3243 of mitochondrial DNA (m.3243A>G) in the mitochondrial-encoded tRNA leucine (UUA/G) gene. As the name suggests, this condition is characterized by maternally-inherited diabetes and bilateral neurosensory hearing impairment. A characteristic of mitochondrial cytopathies is the progressive multisystemic involvement with the development of more symptoms during the course of the disease. We report here the case of a patient with MIDD who developed hyporeninemic hypoaldosteronism.
母系遗传糖尿病伴耳聋（MIDD）是一种罕见的单基因糖尿病，在大多数情况下，是由线粒体编码的亮氨酸（UUA/G）转运RNA基因中线粒体DNA第3243位的A到G转换（m.3243A>G）导致的。顾名思义，这种疾病的特征是母系遗传糖尿病和双侧神经感觉性听力障碍。线粒体细胞病的一个特点是在疾病过程中逐渐出现多系统受累并出现更多症状。我们在此报告一例患有MIDD并发展为低肾素性低醛固酮血症的患者。
