Published online November 1, 2007
PEDIATRICS Vol. 120 No. 5 November 2007, pp. e1350-e1354 (doi:10.1542/peds.2006-3209)
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EXPERIENCE & REASON

Neonatal Hyperparathyroidism and Pamidronate Therapy in an Extremely Premature Infant

Lisa Fox, MB, ChB, FRACPa, Joel Sadowsky, MB, ChB, FRACPa, Kevin P. Pringle, MB, ChB, FRACSa,b,c, Alexa Kidd, MBBS, MRCP, MScd, Jean Murdoch, MD, FRCP(C)e, David E.C. Cole, MD, PhD, FRCPCf and Esko Wiltshire, MD, FRACPa,d,g

a Departments of Paediatrics and Child Health
e Radiology
d Central Regional Genetics Service, Wellington Hospital, Capital and Coast District Health Board, Wellington, New Zealand; Departments of
b Surgery
c Obstetrics and Gynaecology
g Paediatrics and Child Health, Wellington School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand
f Departments of Laboratory Medicine and Pathobiology, Medicine, and Pediatrics, University of Toronto, Toronto, Ontario, Canada

ABSTRACT

We describe the use of pamidronate to control marked hypercalcemia in an extremely premature infant with neonatal hyperparathyroidism that resulted from an inactivating mutation (R220W) of the calcium-sensing receptor. Despite improvement in bone mineralization and subsequent parathyroidectomy with normalization of the serum calcium level, the combination of chronic lung disease, osteomalacia, and poor thoracic cage growth ultimately proved fatal. Pamidronate therapy seems to be safe in the short-term and effective in helping control hypercalcemia even in the very premature infant, allowing for planned surgical intervention when it becomes feasible.

Key Words: neonate • bisphosphonate • hypercalcemia • calcium-sensing receptor • familial hypocalciuric hypercalcemia • neonatal hyperparathyroidism

Abbreviations: NHPT, neonatal hyperparathyroidism • CaSR, calcium-sensing receptor • NSHPT, neonatal severe hyperparathyroidism • FHH, familial hypocalciuric hypercalcemia • PTH, parathyroid hormone • CGA, corrected gestational age

Accepted May 4, 2007.


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