Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination – A Case Report
| Autor: | Edward Nehus, Joseph Werthammer, James Bailes, Werthhammer, Priya Prasher, Deborah L. Preston, Hillarey K. Stone, Katherine Redmond |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
medicine.medical_specialty
lcsh:R5-920 polycystic kidney disease business.industry Hypoglycemia Compound heterozygosity medicine.disease medicine.disease_cause Endocrinology Novel Insights from Clinical Practice Internal medicine Polycystic kidney disease medicine Diazoxide General Earth and Planetary Sciences Coding region Gestation Missense mutation hyperinsulinemic hypoglycemia Hyperinsulinemic hypoglycemia business pmm2 gene mutation lcsh:Medicine (General) General Environmental Science medicine.drug |
| Zdroj: | Biomedicine Hub, Vol 5, Iss 3, Pp 1-6 (2020) Biomedicine Hub |
| ISSN: | 2296-6870 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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