title: 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.affiliation: Division de Endocrinologia, Hospital de Niños R. Gutierrez, Buenos Aires, Argentina.
authors.forename: H R
authors.initials: HR
authors.lastname: Cassinelli
authors.forename: C A
authors.initials: CA
authors.lastname: Mautalen
authors.forename: J J
authors.initials: JJ
authors.lastname: Heinrich
authors.forename: A
authors.initials: A
authors.lastname: Miglietta
authors.forename: C
authors.initials: C
authors.lastname: Bergada
mesh_terms: D000284:Administration, Oral; D000469:Alkaline Phosphatase / Q000097:blood*; D002118:Calcium / Q000097:blood*; D002125:Calcium Gluconate / Q000627:therapeutic use; D002675:Child, Preschool; D004164:Diphosphonates / Q000008:administration & dosage / Q000627:therapeutic use*; D006801:Humans; D007275:Injections, Intravenous; D010001:Osteitis Deformans / Q000188:drug therapy*; D000077268:Pamidronate; D010281:Parathyroid Hormone / Q000097:blood*; D010710:Phosphates / Q000097:blood*; D011863:Radioimmunoassay
chemical_list: D004164:Diphosphonates; D010281:Parathyroid Hormone; D010710:Phosphates; D000469:Alkaline Phosphatase; D000077268:Pamidronate; D002125:Calcium Gluconate; D002118:Calcium