Thomsen Bo Schneider Vohra, Lauenborg Jeannet, Søgaard Marie
Ugeskr Laeger. 2020 Jul 27;182(31).
Untreated hypoglycaemia in newborns may result in permanent cognitive damage, why early diagnosis and treatment is important. This case report describes a newborn girl, who developed hypoglycaemia, when she was two hours old despite early feeding. The father of the child had maturity-onset diabetes of the young Type 1, which is caused by an autosomal dominant inherited mutation in the HNF4A gene. Due to this, early blood glucose measurements were performed. The child was treated with extra feeding and recovered without any consequences. A later gene test showed, that the child was carrier of the mutation.
新生儿未经治疗的低血糖可能导致永久性认知损伤，这就是早期诊断和治疗为何重要的原因。本病例报告描述了一名新生女婴，尽管早期进行了喂养，但在出生两小时时仍出现了低血糖。孩子的父亲患有青年型1型成年发病型糖尿病，这是由HNF4A基因的常染色体显性遗传突变引起的。因此，进行了早期血糖测量。该患儿通过额外喂养进行治疗，康复且未留下任何后遗症。后来的基因检测显示，该患儿是该突变的携带者。
