title: Teriparatide increases bone mineral density in a man with osteoporosis pseudoglioma.
abstract: Osteoporosis Pseudoglioma (OPPG) is characterized by severe juvenile-onset osteoporosis and ocular abnormalities. It is caused by one of several inactivating mutations in LRP5, a gene importantly involved in bone formation. The objective of this study was to evaluate the efficacy of teriparatide in a young man with OPPG. The subject of this case report is a 19-year-old man with congenital blindness and low trauma fractures because of OPPG. A 2-year course of teriparatide, 20 µg/day, was initiated after a 6-year course of intravenous pamidronate infusions, the latter 3 years of which had minimal effects on bone mineral density (BMD). Measurements in serum were made of C-terminal telopeptide of type I collagen (CTX), N-terminal propeptide of type I collagen (P1NP), total and ionized calcium, phosphate, uric acid, complete blood count, and renal and liver function tests. Urinary calcium/creatinine ratio was determined. BMD was measured by DXA yearly. BMD increased by 9.7% in lumbar spine and 10.2% in right femur hip. CTX rose early, peaking in month 3, followed by an increase in P1NP, peaking in month 9. Both indices returned to baseline by month 24. The increase in CTX followed by P1NP is an unusual time course when teriparatide is used to treat osteoporosis but may be typical of low bone turnover states. There were no adverse events. In a patient with OPPG, teriparatide markedly increased BMD in the lumbar spine and femur hip.
authors: Bone and Mineral Unit, Division of Endocrinology, São Paulo Federal University, São Paulo, SP, Brazil. henriqueparantes@yahoo.com.br
authors: Henrique Pierotti
authors: HP
authors: Arantes
authors: Elizabete Ribeiro
authors: ER
authors: Barros
authors: Ilda
authors: I
authors: Kunii
authors: John P
authors: JP
authors: Bilezikian
authors: Marise
authors: M
authors: Lazaretti-Castro
mesh_terms: D015519:Bone Density / Q000187:drug effects*; D050071:Bone Density Conservation Agents / Q000494:pharmacology* / Q000627:therapeutic use*; D002648:Child; D024042:Collagen Type I / Q000097:blood; D006801:Humans; D008159:Lumbar Vertebrae / Q000187:drug effects / Q000503:physiopathology; D008297:Male; D010013:Osteogenesis Imperfecta / Q000097:blood / Q000188:drug therapy* / Q000503:physiopathology*; D010446:Peptide Fragments / Q000097:blood; D010455:Peptides / Q000097:blood; D011347:Procollagen / Q000097:blood; D019379:Teriparatide / Q000494:pharmacology* / Q000627:therapeutic use*; D055815:Young Adult
chemical_list: D050071:Bone Density Conservation Agents; D024042:Collagen Type I; D010446:Peptide Fragments; D010455:Peptides; D011347:Procollagen; C052929:collagen type I trimeric cross-linked peptide; C047202:procollagen Type I N-terminal peptide; D019379:Teriparatide