Osteoporosis Pseudoglioma (OPPG) is characterized by severe juvenile-onset osteoporosis and ocular abnormalities. It is caused by one of several inactivating mutations in LRP5, a gene importantly involved in bone formation. The objective of this study was to evaluate the efficacy of teriparatide in a young man with OPPG. The subject of this case report is a 19-year-old man with congenital blindness and low trauma fractures because of OPPG. A 2-year course of teriparatide, 20 µg/day, was initiated after a 6-year course of intravenous pamidronate infusions, the latter 3 years of which had minimal effects on bone mineral density (BMD). Measurements in serum were made of C-terminal telopeptide of type I collagen (CTX), N-terminal propeptide of type I collagen (P1NP), total and ionized calcium, phosphate, uric acid, complete blood count, and renal and liver function tests. Urinary calcium/creatinine ratio was determined. BMD was measured by DXA yearly. BMD increased by 9.7% in lumbar spine and 10.2% in right femur hip. CTX rose early, peaking in month 3, followed by an increase in P1NP, peaking in month 9. Both indices returned to baseline by month 24. The increase in CTX followed by P1NP is an unusual time course when teriparatide is used to treat osteoporosis but may be typical of low bone turnover states. There were no adverse events. In a patient with OPPG, teriparatide markedly increased BMD in the lumbar spine and femur hip.

译文

骨质疏松假性胶质瘤 (OPPG) 的特征是严重的幼年性骨质疏松症和眼部异常。它是由LRP5的几个失活突变之一引起的,LRP5是一个重要参与骨形成的基因。这项研究的目的是评估特立帕肽对患有OPPG的年轻人的疗效。该病例报告的主题是一名19岁的男性,由于OPPG而患有先天性失明和低创伤骨折。在静脉输注帕米膦酸盐6年疗程后,开始了为期2年的特立帕肽疗程,每天20 µ g,后3年对骨矿物质密度 (BMD) 的影响很小。血清中的C末端肽I型胶原 (CTX),N末端肽I型胶原 (P1NP),总和离子钙,磷酸盐,尿酸,全血细胞计数以及肾和肝功能测试。测定尿钙/肌酐比值。BMD通过DXA每年测量。腰椎9.7% 增加BMD,右股骨髋关节10.2%。CTX提前上涨,在第3个月达到峰值,随后P1NP上升,在第9个月达到峰值。这两个指数在第24个月前恢复到基线。当特立帕肽用于治疗骨质疏松症时,CTX的增加继之以P1NP是一个不寻常的时间过程,但可能是低骨转换状态的典型特征。无不良事件发生。在OPPG患者中,特立帕肽显着增加了腰椎和股骨髋关节的BMD。

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