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Neonatal hyperparathyroidism and pamidronate therapy in an extremely premature infant

Lisa Fox1, Joel Sadowsky, Kevin P Pringle

  • 1Department of Paediatrics and Child Health, Wellington Hospital, Capital and Coast District Health Board, Wellington, New Zealand. lisa.fox@rwh.org.au

Pediatrics
|November 3, 2007
PubMed

Insights

Pamidronate effectively controlled hypercalcemia in a premature infant with neonatal hyperparathyroidism. This bisphosphonate therapy offers a safe, short-term solution for managing high calcium levels in extremely premature infants.

Area of Science:

  • Neonatal medicine
  • Endocrinology
  • Genetics

Background:

  • Neonatal hyperparathyroidism can cause severe hypercalcemia.
  • Inactivating mutations in the calcium-sensing receptor (CASR) gene are a known cause.
  • This case involves a premature infant with a specific CASR mutation (R220W).

Observation:

  • The infant presented with marked hypercalcemia due to neonatal hyperparathyroidism.
  • Pamidronate was administered to manage the hypercalcemia.
  • Despite initial improvements in bone mineralization and eventual parathyroidectomy, the infant faced complications.

Findings:

  • Pamidronate demonstrated short-term safety and efficacy in controlling hypercalcemia.
  • The therapy facilitated planned surgical intervention for the infant.
  • The infant's condition was ultimately fatal due to chronic lung disease, osteomalacia, and poor thoracic cage growth.

Implications:

  • Pamidronate is a viable option for short-term hypercalcemia management in extremely premature infants.
  • Early intervention with pamidronate may allow for surgical correction of neonatal hyperparathyroidism.
  • This case highlights the complex interplay of genetic factors, bone metabolism, and respiratory health in premature infants.

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