Prasher Priya, Redmond Katherine, Stone Hillarey, Bailes James, Nehus Edward, Preston Deborah, Werthammer Joseph
Department of Pediatrics, Marshall University, Joan C Edwards School of Medicine, Huntington, West Virginia, USA.
Division of Nephrology and Hypertension, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA.
Biomed Hub. 2020 Dec 3;5(3):32-37. doi: 10.1159/000511389. eCollection 2020 Sep-Dec.
We present the case of an infant referred to our NICU born at 39 weeks' gestation with persistent hypoglycemia with elevated insulin levels (HI) requiring diazoxide to maintain normoglycemia. Additionally, polycystic kidney disease (PKD) was detected by ultrasound. Molecular genetic testing revealed pathogenic variants in the gene, i.e., a variant in the promoter region and a missense variant in the coding region. The precoding variant was recently described in 11 European families with similar phenotypes, either in a homozygous state or as compound heterozygous with a pathogenic coding variant. In neonates with HI associated with PKD, this rare recessive disorder should be considered.
我们报告了一例转诊至我院新生儿重症监护病房（NICU）的婴儿病例，该婴儿孕39周出生，患有持续性低血糖且胰岛素水平升高（HI），需要使用二氮嗪来维持血糖正常。此外，超声检查发现多囊肾病（PKD）。分子基因检测揭示了该基因中的致病变异，即启动子区域的一个变异和编码区域的一个错义变异。这种前编码变异最近在11个具有相似表型的欧洲家庭中被描述，这些家庭中该变异要么呈纯合状态，要么与一个致病性编码变异呈复合杂合状态。在患有与PKD相关的HI的新生儿中，应考虑这种罕见的隐性疾病。
