کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
8633077 1569029 2018 12 صفحه PDF سفارش دهید دانلود رایگان
عنوان انگلیسی مقاله ISI
Juvenile Paget disease
ترجمه فارسی عنوان
بیماری پیله نوجوان
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موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی علوم غدد
چکیده انگلیسی
Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized, extremely rapid bone turnover. The clinical manifestations are both skeletal - progressive skeletal deformity that develops in childhood - and extra-skeletal, including hearing loss, retinopathy, vascular calcification and internal carotid artery aneurysm formation. The severity of the phenotype seems to be related to the severity of TNFRSF11B gene deactivation. JPD is characterized biochemically by very high alkaline phosphatase activity, as well as other bone turnover markers. Bisphosphonates are commonly used to reduce the greatly accelerated bone turnover and can ameliorate the skeletal phenotype, if started early enough in childhood and continued at least until growth is complete. Limited evidence from patients treated with recombinant OPG or denosumab also provided favorable results. Recombinant OPG would represent a replacement treatment, but it is unavailable for clinical use. It seems that life-long treatment with anti-resorptives is required, since the disease is reactivated after treatment discontinuation. An international collaborating network for the continuous registration and follow-up of JPD patients could be helpful in the future.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Metabolism - Volume 80, March 2018, Pages 15-26
نویسندگان
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