Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.
Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.
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DOI：
10.1159/000511389
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发表时间：
2020-09
期刊：
影响因子：
--
通讯作者：
Werthhammer
中科院分区：
文献类型：
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作者：
Prasher P;Redmond K;Stone H;Bailes J;Nehus E;Preston D;Werthammer J;Werthhammer
我们介绍了一名转入新生儿重症监护病房 (NICU) 的婴儿，出生时妊娠 39 周，患有持续性低血糖，胰岛素水平 (HI) 升高，需要二氮嗪维持正常血糖。此外，通过超声波检测出多囊肾病（PKD）。分子遗传学检测揭示了 PMM2 基因的致病性变异，即启动子区的变异和编码区的错义变异。最近在 11 个具有相似表型的欧洲家族中描述了预编码变异，要么是纯合状态，要么是具有致病性编码变异的复合杂合状态。对于患有 HI 并伴有 PKD 的新生儿，应考虑这种罕见的隐性遗传疾病。
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 PMM2gene, 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.