Dyer Emma M, Amin Rakesh
Department of Paediatrics, Lewisham University Hospital, London, UK.
Department of Endocrinology and Diabetes, Great Ormond Street Hospital London, London, UK.
Arch Dis Child Educ Pract Ed. 2018 Apr;103(2):58-64. doi: 10.1136/archdischild-2016-311470. Epub 2017 Jul 28.
Monogenic forms of diabetes (historically known as Maturity Onset Diabetes of the Young (MODY)) are caused by single gene mutations inherited in an autosomal dominant fashion that result in reduced pancreatic beta cell function. Children with these forms of diabetes may be misdiagnosed as having type 1 or 2 diabetes, which has important implications for treatment, genetic counselling, screening of family members and prognosis. Useful tools now exist to aid in their diagnosis and management. Here, we attempt to outline the clinical features that will help the physician make the differentiation from other diabetes subtypes.
单基因糖尿病（历史上称为青年发病的成年型糖尿病（MODY））由以常染色体显性方式遗传的单基因突变引起，导致胰腺β细胞功能减退。患有这些类型糖尿病的儿童可能会被误诊为1型或2型糖尿病，这对治疗、遗传咨询、家庭成员筛查和预后具有重要意义。现在有一些有用的工具可帮助进行诊断和管理。在此，我们试图概述有助于医生与其他糖尿病亚型进行鉴别的临床特征。
