Hutchinson-Gilford Progeria Is a Skeletal Dysplasia

作者：Gordon Catherine M^*; Gordon Leslie B; Snyder Brian D; Nazarian Ara; Quinn Nicolle; Huh Susanna; Giobbie Hurder Anita; Neuberg Donna; Cleveland Robert; Kleinman Monica; Miller David T; Kieran Mark W

来源：Journal of Bone and Mineral Research, 2011, 26(7): 1670-1679.

DOI：10.1002/jbmr.392

• BONE QCT
• CLINICAL/PEDIATRICS
• BONE DENSITOMETRY
• OSTEOPOROSIS
• BONE MINERALIZATION

Hutchinson-Gilford progeria syndrome (HGPS) is a rare segmental premature aging disorder that affects bone and body composition, among other tissues. We sought to determine whether bone density and structural geometry are altered in children with HGPS and whether relationships exist among these parameters and measures of skeletal anthropometry, body composition, and nutrition. We prospectively enrolled 26 children with HGPS (ages 3.1 to 16.2 years). Outcomes included anthropometric data; bone age; areal bone mineral density (aBMD) and body composition by dual-energy X-ray absorptiometry (DXA); volumetric bone mineral density (vBMD), strength-strain index (SSI), and bone structural rigidity calculated from radial transaxial peripheral quantitative computed tomographic (pQCT) images; serum bone biomarkers and hormonal measures; and nutrition assessments. Children with HGPS had low axial aBMD Z-scores by DXA, which improved after adjustment for height age, whereas differences in radial vBMD by pQCT were less striking. However, pQCT revealed distinct abnormalities in both novel measures of bone structural geometry and skeletal strength at the radius compared with healthy controls. Dietary intake was adequate, confirming that HGPS does not represent a model of malnutrition-induced bone loss. Taken together, these findings suggest that the phenotype of HGPS represents a unique skeletal dysplasia. 2011 American Society for Bone and Mineral Research.

• 出版日期2011-7