Priya Prasher, Katherine Redmond, Hillarey Stone, James Bailes, Edward Nehus, Deborah Preston, Joseph Werthammer, Werthhammer
{"title":"Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.","authors":"Priya Prasher, Katherine Redmond, Hillarey Stone, James Bailes, Edward Nehus, Deborah Preston, Joseph Werthammer, Werthhammer","doi":"10.1159/000511389","DOIUrl":null,"url":null,"abstract":"<p><p>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 <i>PMM2</i>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.</p>","PeriodicalId":9075,"journal":{"name":"Biomedicine Hub","volume":null,"pages":null},"PeriodicalIF":0.0000,"publicationDate":"2020-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/c1/d9/bmh-0005-0032.PMC8136312.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Biomedicine Hub","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1159/000511389","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2020/9/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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Abstract
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.
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