一名日本婴儿患有急性1型糖尿病,具有对疾病敏感的CSAD多态性和HLA单元型
Junko Kanno1, Hirohito Shima1, Miki Kamimura1,2
1Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
本案例研究详细介绍了被诊断患有1型糖尿病 (FT1DM) 的最年轻的日本女婴. 该患者呈现出严重的糖尿病酸性脂肪酸症,但具有独特的临床过程和遗传倾向.
科学领域:
- 儿科内分泌学 儿科内分泌学
- 自免疫性疾病 自免疫性疾病
- 遗传学 遗传学 是一个
背景情况:
- 1型糖尿病 (FT1DM) 是一种罕见的1型糖尿病 (T1DM) 亚型,以急性发病为特征.
- 在儿科群体,特别是婴儿中,FT1DM的病例报告有限.
研究的目的:
- 报告日本记录下来的最年轻的FT1DM女婴.
- 在这种罕见的儿科病例中分析临床表现,遗传倾向和自身免疫标记.
主要方法:
- 一个10个月大的日本女婴的案例报告.
- 实验室发现的分析,包括HbA1c,自身抗体 (GAD,IA-2,胰岛素自身抗体) 和C-水平.
- 人类白细胞抗原 (HLA) 类型和单核酸多态性 (SNP) 分析 (rs3782151在CSAD/lnc-ITGB7-1).
- 同时发生的格雷夫斯病诊断的文件.
主要成果:
- 患者在发病时满足了严重糖尿病酸性脂肪酸症的诊断标准,具有阳性胰岛素自身抗体和低C水平.
- 基因分析显示,通过HLA类型和rs3782151 SNP.通过FT1DM的倾向性.
- 患者在8岁时患上了Graves病,尽管FT1DM诊断,但与自身免疫T1DM有共同的并发症.
结论:
- 这个病例代表了患有FT1DM的最年轻的女婴,突出显示了这种疾病在婴儿期早期的发生.
- 患者的遗传倾向和自身免疫标记支持FT1DM诊断,但她的临床过程与自身免疫T1DM有相似之处.
- 在FT1DM患者中Graves病的共同发展强调了儿科糖尿病中自身免疫性疾病的复杂相互作用.
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