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两名患有罕见类型的青年发病型糖尿病(MODY)的兄弟姐妹。

Two siblings with a rare type of maturity-onset diabetes of the young (MODY).

机构信息

Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain

Pediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.

出版信息

BMJ Case Rep. 2023 Feb 10;16(2):e249362. doi: 10.1136/bcr-2022-249362.

Abstract

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.

摘要

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。

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