title: Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease.
abstract: In 12 patients (mean age, 33 +/- 13 years) with type 1 Gaucher disease (GD), we evaluated bone mass by broadband ultrasound attenuation (BUA) of the calcaneus and dual X-ray absorptiometry (DXA) of the total body, lumbar spine, and hip. In all patients, we measured serum levels of osteocalcin (OC) and bone-specific alkaline phosphatase (BAP) and urinary excretion of pyridinoline (Pyr/Cr) and deoxypyridinoline (D-Pyr/Cr) cross-links. Compared to age- and sex-matched healthy controls, patients with GD showed marked osteopenia at all measuring sites as expected. Values of BUA (67.25 +/- 15.83 dB/MHz) were also significantly reduced. OC and BAP concentrations were within the normal range. Pyr/Cr and D-Pyr/Cr were significantly higher than in controls. Calculating T- and Z scores, we found a significant correlation between the Bone Severity Score Index (BSSI) and both BUA and BMD measurements. A significant correlation was also found between pyridinoline urinary excretion and both BSSI and BUA at the calcaneus. Our data suggest that type 1 GD in adulthood is associated with increased bone resorption and that BUA at the calcaneus may be a relevant tool in the assessment of bone status in these patients.
authors.affiliation: Department of Internal Medicine. University of Catania, Italy.
authors.forename: Carmelo Erio
authors.initials: CE
authors.lastname: Fiore
authors.forename: Rita
authors.initials: R
authors.lastname: Barone
authors.forename: Pietra
authors.initials: P
authors.lastname: Pennisi
authors.forename: Vito
authors.initials: V
authors.lastname: Pavone
authors.forename: Stefania
authors.initials: S
authors.lastname: Riccobene
mesh_terms: D000328:Adult; D000596:Amino Acids / Q000652:urine; D015415:Biomarkers; D015992:Body Mass Index; D015519:Bone Density; D001851:Bone Diseases, Metabolic / Q000209:etiology; D001842:Bone and Bones / Q000000981:diagnostic imaging*; D005260:Female; D005776:Gaucher Disease / Q000000981:diagnostic imaging* / Q000473:pathology; D006801:Humans; D008297:Male; D008875:Middle Aged; D012802:Sicily; D014463:Ultrasonography
chemical_list: D000596:Amino Acids; D015415:Biomarkers; C015484:pyridinoline