Persistent hyperinsulinemic hypoglycemia of infancy
Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI)[edit | edit source]
Persistent Hyperinsulinemic Hypoglycemia of Infancy (PHHI), also known as Congenital Hyperinsulinism, is a rare genetic disorder characterized by excessive insulin secretion from the pancreas, leading to severe hypoglycemia. This condition is most commonly diagnosed in newborns and infants.
Etiology[edit | edit source]
PHHI is primarily caused by genetic mutations that affect the regulation of insulin secretion. The most common genetic mutations associated with PHHI occur in the ABCC8 and KCNJ11 genes, which encode the subunits of the ATP-sensitive potassium channel in pancreatic beta cells. These mutations lead to unregulated insulin release.
Pathophysiology[edit | edit source]
In PHHI, the beta cells of the pancreas secrete insulin inappropriately, even when blood glucose levels are low. This results in persistent hypoglycemia, which can cause neurological damage if not promptly treated. The condition is often due to a defect in the potassium channel that regulates insulin secretion.
Clinical Presentation[edit | edit source]
Infants with PHHI typically present with symptoms of hypoglycemia, which may include:
- Lethargy
- Poor feeding
- Seizures
- Cyanosis
- Apnea
Diagnosis[edit | edit source]
Diagnosis of PHHI involves:
- Measuring blood glucose and insulin levels
- Genetic testing for mutations in the ABCC8 and KCNJ11 genes
- Imaging studies such as a pancreatic MRI or PET scan to identify focal lesions
Treatment[edit | edit source]
The management of PHHI includes:
- Medical therapy: Diazoxide is the first-line treatment, which helps to suppress insulin secretion. Octreotide, a somatostatin analog, may also be used.
- Surgical intervention: In cases where medical therapy is ineffective, partial or near-total pancreatectomy may be necessary.
- Dietary management: Frequent feedings and a high-carbohydrate diet can help maintain blood glucose levels.
Prognosis[edit | edit source]
The prognosis for infants with PHHI varies depending on the severity of the condition and the effectiveness of treatment. Early diagnosis and management are crucial to prevent neurological damage.
Research and Future Directions[edit | edit source]
Ongoing research is focused on better understanding the genetic basis of PHHI and developing targeted therapies. Gene therapy and novel pharmacological agents are areas of active investigation.
See Also[edit | edit source]
External Links[edit | edit source]
- [Congenital Hyperinsulinism International](https://www.congenitalhi.org/)
- [Genetics Home Reference on Congenital Hyperinsulinism](https://ghr.nlm.nih.gov/condition/congenital-hyperinsulinism)
NIH genetic and rare disease info[edit source]
Persistent hyperinsulinemic hypoglycemia of infancy is a rare disease.
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Contributors: Prab R. Tumpati, MD
