伴有罕见 LRBA 突变的新生儿糖尿病。
Neonatal diabetes with a rare LRBA mutation.
机构信息
Endocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.
Endocrinology and Diabetes Unit, Dpeartment of Paediatrics, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India
出版信息
BMJ Case Rep. 2022 Nov 24;15(11):e250243. doi: 10.1136/bcr-2022-250243.
Abstract
Neonatal diabetes mellitus (NDM) is characterised by onset of persistent hyperglycaemia within the first 6 months of life. NDM is frequently caused by a mutation in a single gene affecting pancreatic beta cell function. We report an infant, born to a non-consanguineous couple, who presented with osmotic symptoms and diabetic ketoacidosis. The genetic analysis showed a mutation in LRBA (lipopolysaccharide-responsive and beige-like anchor protein) gene. We highlight the importance of considering genetic analysis in every infant with NDM, to understand the nature of genetic mutation, associated comorbidities, response to glibenclamide and future prognosis.
摘要
新生儿糖尿病（NDM）的特征是在生命的头 6 个月内出现持续的高血糖。NDM 通常由影响胰岛β细胞功能的单个基因突变引起。我们报告了一例由非近亲夫妇所生的婴儿，该婴儿出现渗透性症状和糖尿病酮症酸中毒。基因分析显示 LRBA（脂多糖反应和 beige 样锚蛋白）基因突变。我们强调了在每个患有 NDM 的婴儿中进行基因分析的重要性，以了解基因突变的性质、相关合并症、对格列本脲的反应和未来的预后。
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