mody2相关高血糖诊断为妊娠糖尿病1例。

IF 0.5 4区 医学 Q4 GENETICS & HEREDITY Balkan Journal of Medical Genetics Pub Date : 2022-06-01 DOI:10.2478/bjmg-2022-0008
N Chakarova, L Balabanski, R Dimova, P Tsarkova, T Tankova
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引用次数: 0

摘要

青壮年型糖尿病(MODY)是最常见的单基因糖尿病,占所有糖尿病病例的1-2%。已经鉴定出至少14种不同的MODY亚型,其中最常见的是由葡萄糖激酶(GSK)基因突变引起的MODY 2。mody2的轻度高血糖通常在怀孕期间首次检测到。MODY患者通常被误诊为特发性1型或2型糖尿病。妊娠期mody2的识别具有重要的临床意义,因为高血糖的管理可能不同于妊娠期糖尿病的既定算法。如果遗传了GSK突变,母体高血糖需胰岛素治疗至妊娠采用的降糖靶点,会严重影响胎儿发育。该病例报告描述了一名43岁妇女的分步诊断方法,该妇女有妊娠糖尿病史和持续性糖尿病前期,被发现是GSK杂合致病变异(c.184G> a)的携带者,并根据其两个孩子的出生体重讨论了可能的基因型。
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A Case of Mody 2 - Associated Hyperglycemia Diagnosed as Gestational Diabetes.

Maturity-onset diabetes of the young (MODY) is the most common monogenic form of diabetes, accounting for 1-2% of all diabetes cases. At least 14 different MODY subtypes have been identified the most common of which is MODY 2 caused by mutations in the glucokinase (GSK) gene. The mild hyperglycemia of MODY 2 is often first detected during pregnancy. Patients with MODY are usually misdiagnosed as either idiopathic type 1 or type 2 diabetes. The recognition of MODY 2 during pregnancy has important clinical implications as the management of hyperglycemia may differ from the established algorithm in gestational diabetes. Fetus development could be seriously affected in case it has inherited the GSK mutation and maternal hyperglycemia is insulin treated to the pregnancy adopted glycemic targets. The case report describes the stepwise diagnostic approach to a 43-year-old woman with a history of gestational diabetes and persistent prediabetes who was found to be a carrier of a heterozygous pathogenic variant in GSK (c.184G>A) and discusses the possible genotype of her two children according to their birth weight.

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来源期刊
CiteScore
1.00
自引率
0.00%
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0
审稿时长
>12 weeks
期刊介绍: Balkan Journal of Medical Genetics is a journal in the English language for publication of articles involving all branches of medical genetics: human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening and diagnosis of monogenic and polygenic diseases, prenatal and preimplantation genetic diagnosis, genetic counselling, advances in treatment and prevention.
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