中国晚发型庞贝病患者酶替代治疗后骨密度的改善
Improvement of bone mineral density after enzyme replacement therapy in Chinese late-onset Pompe disease patients.
作者信息
Sheng Bun, Chu Yim Pui, Wong Wa Tai, Yau Eric Kin Cheong, Chen Sammy Pak Lam, Luk Wing Hang
机构信息
Department of Medicine & Geriatrics, Princess Margaret Hospital, Lai Chi Kok, Kowloon, Hong Kong SAR.
Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kowloon, Hong Kong SAR.
出版信息
BMC Res Notes. 2017 Jul 28;10(1):351. doi: 10.1186/s13104-017-2681-y.
OBJECTIVE
Late-onset Pompe disease (LOPD) is a lysosomal storage disease resulted from deficiency of the enzyme acid α-glucosidase. Patients usually develop a limb-girdle pattern of myopathy and respiratory impairment, and enzyme replacement therapy (ERT) is the only specific treatment available. Recently, LOPD has been associated with low bone mineral density (BMD), but the effect of ERT on BMD is inconclusive. In this report we described our early observations on the change of BMD after ERT in Chinese LOPD patients.
RESULTS
We studied four Chinese LOPD patients with different severities of myopathy. All were underweight, and three had osteoporosis at baseline. We found significant weight gain in three patients after ERT and all four patients showed improvement in BMD. The biggest improvement, 84.4% increase in BMD, was seen in a lady with the most prominent weight recovery. Our results suggest that ERT improves BMD in Chinese LOPD and weight gain could be a major contributor to this effect.
目的
晚发型庞贝病（LOPD）是一种由于酸性α-葡萄糖苷酶缺乏导致的溶酶体贮积病。患者通常会出现肢带型肌病和呼吸功能障碍，酶替代疗法（ERT）是唯一可用的特异性治疗方法。最近，LOPD与低骨密度（BMD）有关，但ERT对BMD的影响尚无定论。在本报告中，我们描述了对中国LOPD患者ERT后骨密度变化的早期观察结果。
结果
我们研究了4例患有不同严重程度肌病的中国LOPD患者。所有患者体重均低于正常水平，3例患者基线时患有骨质疏松症。我们发现3例患者ERT后体重显著增加，所有4例患者的骨密度均有所改善。骨密度改善最大的是一位体重恢复最明显的女性，其骨密度增加了84.4%。我们的结果表明，ERT可改善中国LOPD患者的骨密度，体重增加可能是这种效果的主要促成因素。
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