Familial idiopathic hyperphosphatasia (FIH): response to long-term treatment with pamidronate (APD).

Abstract

A 5-year-old child suffering from familial idiopathic hyperphosphatasia (FIH) was treated by: (1) intravenous infusion of pamidronate (APD) (3 h) (0.75 mg/kg/day) for 5 days; and (2) oral administration of APD (8 mg/kg/day) for 1 year, in association with calcium (1 g/day) as calcium gluconate. A decrease of both serum calcium and phosphate, and a slight PTH increase were observed immediately after the IV treatment; serum alkaline phosphatase did not change, but a marked and rapid decline in the hydroxyprolinuria was observed: basal 659 +/- 207 during IV treatment 169 +/- 59 (mean +/- SD mg/24 h, P < 0.005). At the end of one year of oral APD treatment clinical and radiological findings showed a remarkable improvement. Serum calcium, phosphate and PTH returned to the initial values. Plasma alkaline phosphatase levels showed a 70% decrease: basal 1370 IU/l, 1 year 410 IU/l whereas the hydroxyprolinuria values were similar to those determined at the end of the intravenous treatment (212 +/- 13 mg/24 h), but still significantly lower than the basal levels (P < 0.01). No side-effects were observed. APD appears to be a promising treatment for patients with FIH.

• Authors: H R Cassinelli, C A Mautalen, J J Heinrich, A Miglietta, C Bergada
• Journal: Bone and mineral (Bone Miner) Vol. 19 Issue 2 Pg. 175-84 (Nov 1992) ISSN: 0169-6009 [Print] Ireland
• PMID: 1422313 (Publication Type: Case Reports, Journal Article)

Chemical References

• Diphosphonates
• Parathyroid Hormone
• Phosphates
• Alkaline Phosphatase
• Pamidronate
• Calcium Gluconate
• Calcium

Topics

• Administration, Oral
• Alkaline Phosphatase (blood)
• Calcium (blood)
• Calcium Gluconate (therapeutic use)
• Child, Preschool
• Diphosphonates (administration & dosage, therapeutic use)
• Humans
• Injections, Intravenous
• Osteitis Deformans (drug therapy)
• Pamidronate
• Parathyroid Hormone (blood)
• Phosphates (blood)
• Radioimmunoassay