title: Early treatment improves growth and biochemical and radiographic outcome in X-linked hypophosphatemic rickets.
abstract: X-Linked hypophosphatemic rickets (XLH) is characterized by hypophosphatemia, rickets, and impaired growth. Despite oral phosphate and 1,25-dihydroxyvitamin D(3) treatment, many patients have suboptimal growth and bone healing. The aim of this study was to assess whether age at treatment onset impacts the outcome. Growth data, biochemistry, and radiographs of 19 well-controlled patients with XLH were analyzed retrospectively. Patients were divided into two groups based on the age at treatment onset (group 1, <1.0 yr; group 2, >or=1.0 yr). The median height z-score was higher in group 1 (n = 8) than in group 2 (n = 11) at treatment onset [-0.4 SD score (SDS) vs. -1.7 SDS; P = 0.001], at the end of the first treatment year (-0.7 SDS vs. -1.8 SDS; P = 0.009), throughout childhood (P > 0.05) and until predicted adult height (-0.2 SDS vs. -1.2 SDS; P = 0.06). The degree of hypophosphatemia was similar in both groups, but serum alkaline phosphatase remained higher in group 2 throughout childhood. Radiographic signs of rickets were more marked in group 2, but even patients with early treatment developed significant skeletal changes of rickets. These data suggest that treatment commenced in early infancy results in improved outcome in patients with XLH, but does not completely normalize skeletal development.
authors.affiliation: Division of Endocrinology, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada M5G 1X8. outi.makitie@helsinki.fi
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: A
authors.initials: A
authors.lastname: Doria
authors.forename: S W
authors.initials: SW
authors.lastname: Kooh
authors.forename: W G
authors.initials: WG
authors.lastname: Cole
authors.forename: A
authors.initials: A
authors.lastname: Daneman
authors.forename: E
authors.initials: E
authors.lastname: Sochett
mesh_terms: D017668:Age of Onset; D001827:Body Height / Q000187:drug effects; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002117:Calcitriol / Q000097:blood; D002648:Child; D002675:Child, Preschool; D006128:Growth / Q000187:drug effects*; D006801:Humans; D017674:Hypophosphatemia / Q000097:blood; D007015:Hypophosphatemia, Familial / Q000000981:diagnostic imaging / Q000378:metabolism / Q000628:therapy*; D007223:Infant; D011859:Radiography; D012189:Retrospective Studies; D016896:Treatment Outcome
chemical_list: D002117:Calcitriol