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首页> 外文期刊>Clinical Pediatric Endocrinology >Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism
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Elevated Bone Turnover in an Infantile Patient with Mucolipidosis II; No Association with Hyperparathyroidism

机译：患有黏液脂缺乏症II的婴儿患者的骨转化率升高;与甲状旁腺功能亢进症无关

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摘要

This present report concerns an infantile patient with mucolipidosis II, who showed transient cortical bone hyperostosis followed by severe osteopenia. The diagnosis of mucolipidosis II was made based on the leakage of lysosomal enzymes in serum and conditioned media of the patient’s skin fibroblasts, low activity of lysosomal enzymes of the fibroblasts and mutation of c.2086_2089insC (p.L697fs) and c.3565C>T (p.R1189X) in the GNPTAB gene. Bone X-ray analysis demonstrated a periosteal reaction and elevated bone resorption at the age of 2 mo. Bone markers, including alkaline phosphatase, osteocalcin and urine deoxypyridinoline, also indicated a high turnover of bone metabolism; however, no apparent rickets-like changes and no increased levels of PTH were observed. Elevated bone resorption is possibly associated with the leakage of lysosomal enzyme from osteoclasts into bone matrices. Bone formation gradually reduced, and increased bone resorption persisted. This led to severe osteopenia at the age of 6 mo. Characteristic bone findings may contribute to early diagnosis of mucolipidosis II, but their pathogenesis remains to be clarified.
机译：本报告涉及一名患有粘膜脂溢性病II的婴儿患者，该患者表现出短暂的皮质骨骨质增生，继而出现严重的骨质减少。诊断粘液脂血症是根据患者皮肤成纤维细胞的血清和条件培养基中溶酶体酶的泄漏，成纤维细胞的溶酶体酶活性低以及c.2086_2089insC（p.L697fs）和c.3565C> T突变引起的（p.R1189X）在GNPTAB基因中。骨X射线分析显示2 mo岁时骨膜反应和骨吸收增加。包括碱性磷酸酶，骨钙素和尿液中的脱氧吡啶啉在内的骨标志物也表明骨代谢的转换率很高。然而，未观察到明显的病样变化和PTH水平升高。骨吸收增加可能与溶酶体酶从破骨细胞渗入骨基质有关。骨形成逐渐减少，并且骨吸收持续增加。这导致6 mo岁时出现严重的骨质减少。骨质特征的发现可能有助于早期诊断粘膜脂溢性病II，但其发病机理仍有待阐明。

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