کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
2058825 1076241 2016 5 صفحه PDF سفارش دهید دانلود کنید
عنوان انگلیسی مقاله
Bone mineral density in mucopolysaccharidosis IVB
ترجمه فارسی عنوان
تراکم معدنی استخوان در موکوپلی ساکاریدوز IVB
کلمات کلیدی
BMD، تراکم معدنی استخوان؛ DXA، انرژی دوگانه جذب سنجی اشعه ایکس؛ GAGs، glycosaminoglycans؛ GLB1، betagalactosidease؛ HAZ، Z-score تعدیل شده با ارتفاع؛ HGMD، پایگاه داده های جهش ژن انسان؛ KS، کراتان سولفات؛ LDF، فیستول ديستال جانبی؛ LS، ستون فقرات کمری؛
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی، ژنتیک و زیست شناسی مولکولی (عمومی)
چکیده انگلیسی


• This is the first report of BMD in MPS IVB.
• Assessment of BMD in 3 patients with Morquio B is challenging using typical body sites measured by DXA.
• Hip replacements preclude proximal femur and whole body DXA; abnormal vertebral shape limits the use of lumbar spine DXA.
• The lateral distal femur DXA was obtainable and technically valid.
• Despite ambulation, lower extremity BMD was below normal.

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Molecular Genetics and Metabolism Reports - Volume 8, September 2016, Pages 80–84
نویسندگان
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