Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report.
Hyperinsulinemic hypoglycemia
PMM2 gene mutation
Polycystic kidney disease
Journal
Biomedicine hub
ISSN: 2296-6870
Titre abrégé: Biomed Hub
Pays: Switzerland
ID NLM: 101692630
Informations de publication
Date de publication:
Historique:
received:
16
06
2020
accepted:
07
09
2020
entrez:
31
5
2021
pubmed:
1
6
2021
medline:
1
6
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 34055813
doi: 10.1159/000511389
pii: bmh-0005-0032
pmc: PMC8136312
doi:
Types de publication
Case Reports
Langues
eng
Pagination
32-37Subventions
Organisme : NIDDK NIH HHS
ID : T32 DK007695
Pays : United States
Informations de copyright
Copyright © 2020 by S. Karger AG, Basel.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest − personal, professional, or financial − to disclose.
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