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MODY病例的临床和实验室特征,遗传突变谱和表型-基因型关系

Elif Özsu¹, Semra Çetinkaya², Semih Bolu³

¹Ankara University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey

Journal of clinical research in pediatric endocrinology

|April 26, 2024

概括

这项研究分析了224名土耳其儿科患者患有年轻人成熟期糖尿病 (MODY),发现GCK和HNF1A基因变异最常见. 大多数患者呈现高血糖症,仅用饮食进行管理.

科学领域:

儿科内分泌学儿科内分泌学
遗传学是一个遗传学.
糖尿病研究糖尿病研究

背景情况:

年轻人成熟期糖尿病 (MODY) 占糖尿病病例的1-5%,源于影响胰腺β细胞功能的基因突变.
MODY的临床和实验室特征是多样化的,在全球范围内亚型的流行率各不相同.
了解遗传和表型特征对于准确诊断和管理MODY至关重要.

研究的目的:

研究土耳其儿科MODY患者的临床和实验室特征.
为了确定MODY基因突变在这个队列中的分布.
在土耳其儿科MODY病例中探索基因型和表型之间的关系.

主要方法:

在土耳其的14个儿科内分泌中心对224个基因诊断的MODY病例进行了回顾性分析.
评估患者数据,包括诊断,治疗,随访和遗传分析结果.
评估临床表现,家族病史和自身抗体的存在.

主要成果:

该研究包括224名患者 (45%为女性),诊断时平均年龄为9.4岁.
GCK (65%) 和HNF1A (19%) 是最常见的基因变异,其次是HNF4A,KLF11和HNF1B.
高血糖是最常见的表现 (87.9%),89%的人有糖尿病家族史;11%的糖尿病相关自身抗体检测呈阳性.
饮食管理是主要治疗方法 (71%),较小比例接受胰岛素或口服药物.

结论:

这是土耳其报告的最大的基因诊断MODY系列.
GCK和HNF1A突变是土耳其儿童MODY的主要原因.
高血糖是最常见的临床表现,饮食管理是许多患者治疗的主要支柱.

关键词:

童年童年童年童年莫迪 (MODY) 的意思是说.诊断诊断诊断诊断诊断诊断

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