Bone mineral density in mucopolysaccharidosis IVB
To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumb...
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| Format: | Article |
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Elsevier
2016-09-01
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| Series: | Molecular Genetics and Metabolism Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426916300611 |
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| author | Francyne Kubaski Heidi H. Kecskemethy H. Theodore Harcke Shunji Tomatsu |
| author_facet | Francyne Kubaski Heidi H. Kecskemethy H. Theodore Harcke Shunji Tomatsu |
| author_sort | Francyne Kubaski |
| collection | DOAJ |
| description | To date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumbar spine (LS), and lateral distal femur (LDF). Functional abilities, ambulatory status, medical history, and height z-score were evaluated. Three patients with MPS IVB (two females), aged 17.7, 31.4 and 31.7 years, were evaluated. Every patient was ambulatory and one sustained two fractures caused by trauma. Whole body and hip DXA scans were technically invalid in every patient due to the presence of prosthetic hip hardware. Lumbar spine was valid in only 1 patient due skeletal abnormalities, and was normal (Z-score of −0.8). The LDF was valid in every patient and was low at all three regions of interest: average LDF z-scores were −3.1 (range, −2.9 to −3.6), −2.3 (range, −2.0 to −2.5), and −2.1 (range, −2.0 to −2.3) for region 1–region 3, respectively. Patients with MPS IVB have low BMD of the lower extremities even with full-time ambulation. Routine body sites to measure by DXA were problematic; hip and WB were invalid due to artifact, and LS had limited utility. The LDF was the only body site consistently available on all patients. Patients did not experience low-energy fractures despite low BMD. |
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| format | Article |
| id | doaj.art-291447cf273943a1b0878a1c3e5887de |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-20T03:16:17Z |
| publishDate | 2016-09-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-291447cf273943a1b0878a1c3e5887de2022-12-21T19:55:20ZengElsevierMolecular Genetics and Metabolism Reports2214-42692016-09-018C808410.1016/j.ymgmr.2016.08.001Bone mineral density in mucopolysaccharidosis IVBFrancyne Kubaski0Heidi H. Kecskemethy1H. Theodore Harcke2Shunji Tomatsu3Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USADepartment of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USADepartment of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USADepartment of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE 19803, USATo date, the only published reports of bone mineral density (BMD) in MPS IV involve patients with MPS IVA; no reports exist describing BMD for MPS IVB. In this prospective study of BMD in three patients with MPS IVB, BMD was acquired by dual-energy X-ray absorptiometry (DXA) at whole body (WB), lumbar spine (LS), and lateral distal femur (LDF). Functional abilities, ambulatory status, medical history, and height z-score were evaluated. Three patients with MPS IVB (two females), aged 17.7, 31.4 and 31.7 years, were evaluated. Every patient was ambulatory and one sustained two fractures caused by trauma. Whole body and hip DXA scans were technically invalid in every patient due to the presence of prosthetic hip hardware. Lumbar spine was valid in only 1 patient due skeletal abnormalities, and was normal (Z-score of −0.8). The LDF was valid in every patient and was low at all three regions of interest: average LDF z-scores were −3.1 (range, −2.9 to −3.6), −2.3 (range, −2.0 to −2.5), and −2.1 (range, −2.0 to −2.3) for region 1–region 3, respectively. Patients with MPS IVB have low BMD of the lower extremities even with full-time ambulation. Routine body sites to measure by DXA were problematic; hip and WB were invalid due to artifact, and LS had limited utility. The LDF was the only body site consistently available on all patients. Patients did not experience low-energy fractures despite low BMD.http://www.sciencedirect.com/science/article/pii/S2214426916300611Mucopolysaccharidosis type BBone mineral densityDual-energy X-ray absorptiometryLateral distal femur dual-energy X-ray absorptiometry |
| spellingShingle | Francyne Kubaski Heidi H. Kecskemethy H. Theodore Harcke Shunji Tomatsu Bone mineral density in mucopolysaccharidosis IVB Molecular Genetics and Metabolism Reports Mucopolysaccharidosis type B Bone mineral density Dual-energy X-ray absorptiometry Lateral distal femur dual-energy X-ray absorptiometry |
| title | Bone mineral density in mucopolysaccharidosis IVB |
| title_full | Bone mineral density in mucopolysaccharidosis IVB |
| title_fullStr | Bone mineral density in mucopolysaccharidosis IVB |
| title_full_unstemmed | Bone mineral density in mucopolysaccharidosis IVB |
| title_short | Bone mineral density in mucopolysaccharidosis IVB |
| title_sort | bone mineral density in mucopolysaccharidosis ivb |
| topic | Mucopolysaccharidosis type B Bone mineral density Dual-energy X-ray absorptiometry Lateral distal femur dual-energy X-ray absorptiometry |
| url | http://www.sciencedirect.com/science/article/pii/S2214426916300611 |
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