Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain
Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
BMJ Case Rep. 2023 Feb 10;16(2):e249362. doi: 10.1136/bcr-2022-249362.
Maturity-onset diabetes of the young (MODY) is a type of diabetes that does not entirely fit the usually encountered type 1 or type 2 diabetes. It is a monogenic, familial and non-autoimmune diabetes among children and young adults resulting from autosomal dominant gene mutations.MODY diagnosis is confirmed by molecular genetic testing, which is costly. Therefore, it is rarely done.Nearly 1%-6% of diabetes has a monogenic cause but this is frequently misclassified as type 1 diabetes mellitus due to the lack of genetic testing. Therefore, a correct diagnosis of MODY is crucial for determining the plan of management. Furthermore, having a patient with MODY in a family indicates screening other family members. In this case report, we highlight that paediatric diabetes cases are not always type 1 or type 2 diabetes mellitus since two siblings incidentally presented with hyperglycaemia and a confirmed diagnosis of MODY type 10 was ultimately made. Moreover, their mother who was previously labelled as a case of type 1 diabetes mellitus was diagnosed later as MODY after genetic testing.
青少年发病的成年型糖尿病(MODY)是一种不完全符合常见的 1 型或 2 型糖尿病的糖尿病。它是一种单基因、家族性和非自身免疫性糖尿病,发生于儿童和青年期,由常染色体显性基因突变引起。MODY 的诊断通过分子遗传学检测来确认,但这种检测费用昂贵,因此很少进行。近 1%-6%的糖尿病有单基因病因,但由于缺乏基因检测,这种病因经常被误诊为 1 型糖尿病。因此,正确诊断 MODY 对于确定管理计划至关重要。此外,家族中有 MODY 患者表明需要对其他家庭成员进行筛查。在本病例报告中,我们强调指出,儿科糖尿病病例并不总是 1 型或 2 型糖尿病,因为有两个兄弟姐妹偶然出现高血糖,最终被确诊为 10 型 MODY。此外,他们的母亲以前被标记为 1 型糖尿病病例,后来经过基因检测被诊断为 MODY。