Cepollaro C, Gonnelli S, Pondrelli C, Montagnani A, Martini S, Bruni D, Gennari C
Institute of Internal Medicine, University of Siena, Viale Bracci 2, Siena Italy.
Calcif Tissue Int. 1999 Aug;65(2):129-32. doi: 10.1007/s002239900670.
We studied 21 patients (11 men and 10 women) with osteogenesis imperfecta (OI) and 21 age- and sex-matched controls. In all patients we measured serum levels of total alkaline phosphatase (ALP), type I procollagen carboxy-terminal propeptide (PICP), osteocalcin (BGP), urinary excretion of hydroxyproline (HOP/Cr), and pyridinoline crosslinks (Pyr/Cr). Bone mineral density was measured at the distal radius (BMD-R) and at the lumbar spine (BMD-LS) by dual X-ray absorptiometry (DXA). Ultrasound parameters were also performed at the calcaneous with the Achilles device and at the phalanxes with DBM Sonic 1200. A significant reduction (P < 0.001) in BMD and in ultrasound parameters was found in OI patients compared with normals. PICP was significantly reduced in the OI patients compared with controls (P < 0.001); other markers of bone turnover were higher in OI than in controls, but the difference did not reach the statistical significance. A significant correlation (P < 0.05) was found between PICP and BMD at the lumbar spine and between PICP and ultrasound parameters at the calcaneous. On the basis of our data, we conclude that patients with OI show low values of BMD and ultrasound parameters; therefore in these patients, not only is bone mass disturbed but also bone quality. The reduced levels of PICP in OI patients confirm that most OI patients have defects in collagen I biosynthesis. These defects may contribute to the fragility of OI bone by interfering with complete mineralization and/or normal tissue structure. PICP may be considered a useful marker in the clinical management of OI.
我们研究了21例成骨不全症（OI）患者（11名男性和10名女性）以及21名年龄和性别匹配的对照者。我们测量了所有患者的血清总碱性磷酸酶（ALP）、I型前胶原羧基末端前肽（PICP）、骨钙素（BGP）、尿羟脯氨酸排泄量（HOP/Cr）以及吡啶啉交联物（Pyr/Cr）水平。通过双能X线吸收法（DXA）测量桡骨远端（BMD-R）和腰椎（BMD-LS）的骨密度。还使用跟腱装置在跟骨以及使用DBM Sonic 1200在指骨测量超声参数。与正常人相比，OI患者的骨密度和超声参数显著降低（P < 0.001）。与对照组相比，OI患者的PICP显著降低（P < 0.001）；OI患者的其他骨转换标志物高于对照组，但差异未达到统计学意义。在腰椎，PICP与骨密度之间以及在跟骨，PICP与超声参数之间存在显著相关性（P < 0.05）。根据我们的数据，我们得出结论，OI患者的骨密度和超声参数值较低；因此，在这些患者中，不仅骨量受到干扰，而且骨质量也受到影响。OI患者中PICP水平降低证实大多数OI患者在I型胶原蛋白生物合成方面存在缺陷。这些缺陷可能通过干扰完全矿化和/或正常组织结构而导致OI骨的脆性增加。PICP可被视为OI临床管理中的一个有用标志物。
