Osteogenesis imperfecta: bone turnover, bone density, and ultrasound parameters

Calcif Tissue Int. 1999 Aug;65(2):129-32. doi: 10.1007/s002239900670.


We studied 21 patients (11 men and 10 women) with osteogenesis imperfecta (OI) and 21 age- and sex-matched controls. In all patients we measured serum levels of total alkaline phosphatase (ALP), type I procollagen carboxy-terminal propeptide (PICP), osteocalcin (BGP), urinary excretion of hydroxyproline (HOP/Cr), and pyridinoline crosslinks (Pyr/Cr). Bone mineral density was measured at the distal radius (BMD-R) and at the lumbar spine (BMD-LS) by dual X-ray absorptiometry (DXA). Ultrasound parameters were also performed at the calcaneous with the Achilles device and at the phalanxes with DBM Sonic 1200. A significant reduction (P < 0.001) in BMD and in ultrasound parameters was found in OI patients compared with normals. PICP was significantly reduced in the OI patients compared with controls (P < 0.001); other markers of bone turnover were higher in OI than in controls, but the difference did not reach the statistical significance. A significant correlation (P < 0.05) was found between PICP and BMD at the lumbar spine and between PICP and ultrasound parameters at the calcaneous. On the basis of our data, we conclude that patients with OI show low values of BMD and ultrasound parameters; therefore in these patients, not only is bone mass disturbed but also bone quality. The reduced levels of PICP in OI patients confirm that most OI patients have defects in collagen I biosynthesis. These defects may contribute to the fragility of OI bone by interfering with complete mineralization and/or normal tissue structure. PICP may be considered a useful marker in the clinical management of OI.

MeSH terms

  • Absorptiometry, Photon
  • Adult
  • Alkaline Phosphatase / blood
  • Amino Acids / urine
  • Bone Density*
  • Bone Resorption / blood
  • Bone Resorption / diagnostic imaging*
  • Bone and Bones / diagnostic imaging
  • Bone and Bones / metabolism*
  • Calcaneus / diagnostic imaging
  • Calcaneus / metabolism
  • Female
  • Fingers / diagnostic imaging
  • Humans
  • Hydroxyproline / urine
  • Lumbar Vertebrae / metabolism
  • Male
  • Osteocalcin / blood
  • Osteogenesis Imperfecta / blood
  • Osteogenesis Imperfecta / diagnostic imaging*
  • Peptide Fragments / blood
  • Procollagen / blood
  • Radius / metabolism
  • Ultrasonography


  • Amino Acids
  • Peptide Fragments
  • Procollagen
  • procollagen type I carboxy terminal peptide
  • Osteocalcin
  • pyridinoline
  • Alkaline Phosphatase
  • Hydroxyproline