Mihai B, Mihai Cătălina, Cijevschi-Prelipcean Cristina, Lăcătuşu Cristina
Discipline of Diabetes, Nutrition, Metabolic Diseases, University of Medicine and Pharmacy Grigore T. Popa-Iaşi School of Medicine.
Rev Med Chir Soc Med Nat Iasi. 2012 Jul-Sep;116(3):700-7.
Diabetes mellitus is a heterogenous disorder characterized by chronic hyperglycemia and induced by a large number of etiopathogenic conditions. Beside type 1 and type 2 diabetes, which account for almost 90% of all cases, practitioners may encounter patients with more infrequent forms of diabetes, as those induced by mutations of a single gene, atypical immune disorders or neonatal diabetes. Monogenic diabetes is represented by genetic disorders in the structure of the beta-cell (the MODY syndromes and the mutations of mitochondrial DNA) or in the insulin's action (type A insulin resistance syndrome, Rabson-Mendenhall syndrome, leprechaunism, lipodystrophies). The rare forms of immune diabetes are determined by antibodies against insulin or insulin receptor or appear as a component of the "stiff man syndrome". Neonatal diabetes is induced by mutations in genes that control beta-cell development and function and may have a transient or permanent nature. Knowledge of the uncommon forms of diabetes mellitus enables physicians to apply the optimal treatment, to estimate the evolution of the patient and to apply a complete family screening in order to diagnose all other blood relatives as soon as possible.
糖尿病是一种异质性疾病,其特征为慢性高血糖,由多种致病条件诱发。除了占所有病例近90%的1型和2型糖尿病外,医生可能会遇到患有较罕见糖尿病类型的患者,例如由单基因突变、非典型免疫紊乱或新生儿糖尿病诱发的糖尿病。单基因糖尿病表现为β细胞结构的遗传紊乱(青少年发病的成年型糖尿病综合征和线粒体DNA突变)或胰岛素作用方面的遗传紊乱(A型胰岛素抵抗综合征、拉布森 - 门登霍尔综合征、妖精貌综合征、脂肪营养不良)。罕见的免疫性糖尿病由抗胰岛素或胰岛素受体抗体决定,或表现为“僵人综合征”的一个组成部分。新生儿糖尿病由控制β细胞发育和功能的基因突变诱发,可能具有短暂性或永久性。了解糖尿病的罕见类型有助于医生采用最佳治疗方法,评估患者的病情发展,并进行全面的家族筛查,以便尽快诊断所有其他血亲。