A combination of nifedipine and octreotide treatment in an hyperinsulinemic hypoglycemic infant

Area of Science:

• Medical Genetics
• Pediatric Endocrinology
• Pharmacology

Background:

• Hyperinsulinemic hypoglycemia (HH) is a common cause of persistent hypoglycemia in neonates and infants.
• Mutations in ABCC8 and KCNJ11 genes, encoding ATP-sensitive potassium channel subunits, are found in about 50% of HH patients.
• Diazoxide is the first-line treatment, with octreotide and glucagon as alternatives for non-responders.

Purpose of the Study:

• To report the efficacy of nifedipine in a patient with severe, diazoxide- and octreotide-unresponsive hyperinsulinemic hypoglycemia.
• To highlight nifedipine as a potential treatment option for refractory HH cases.

Main Methods:

• Case report of a patient with a homozygous ABCC8 mutation (p.W1339X).
• Patient initially treated with diazoxide and octreotide without success.
• Near-total pancreatectomy performed due to persistent hypoglycemia.
• Introduction of nifedipine to manage post-surgical hypoglycemic attacks.

Main Results:

• The patient experienced severe hypoglycemic attacks despite surgery and octreotide treatment.
• Nifedipine administration successfully resolved the hypoglycemic attacks.
• Hypotension occurred at a high nifedipine dosage (0.75 mg/kg/day), necessitating a combination therapy.
• Current treatment with nifedipine and octreotide provides good control without side effects in the 4-year-old patient.

Conclusions:

• Nifedipine is a viable treatment option for hyperinsulinemic hypoglycemia unresponsive to standard therapies like diazoxide and octreotide.
• Combination therapy with nifedipine and octreotide can effectively manage refractory HH.
• Careful monitoring for side effects like hypotension is crucial during nifedipine treatment.