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Persistent Hypoglycemia with Polycystic Kidneys: A Rare Combination - A Case Report
Priya Prasher1, Katherine Redmond1, Hillarey Stone2
1Department of Pediatrics, Marshall University, Joan C Edwards School of Medicine, Huntington, West Virginia, USA.
Persistent hypoglycemia with elevated insulin and polycystic kidney disease in a neonate was linked to rare PMM2 gene variants. This genetic finding suggests a specific diagnosis for infants with these combined symptoms.
Area of Science:
- Medical Genetics
- Neonatology
- Pediatric Endocrinology
Background:
- Persistent hyperinsulinemic hypoglycemia (HI) is a critical neonatal condition.
- Polycystic kidney disease (PKD) can present in neonates, sometimes alongside metabolic disorders.
- Genetic etiologies for neonatal HI are diverse and require thorough investigation.
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