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題名 | Hypophosphatasia in Taiwan: Report of Two Cases=臺灣之先天性磷酸酶缺乏症--二病例報告 |
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作者 | 周言穎; 歐弘毅; 吳達仁; 蔡尚均; 林秀娟; 游新; Chou, Yen-yin; Ou, Horng-yih; Wu, Ta-jen; Tsai, Shang-chun; Lin, Shio-jean; Yu, Hsin; |
期刊 | The Kaohsiung Journal of Medical Sciences |
出版日期 | 20050300 |
卷期 | 21:3 民94.03 |
頁次 | 頁134-137 |
分類號 | 415.593 |
語文 | eng |
關鍵詞 | 先天性磷酸酶缺乏症; 鹼性磷酸酶; Hypophosphatasia; Alkaline phosphatase; |
中文摘要 | 先天性磷酸缺乏症為一少見之代謝性疾病,其主要特徵為血清及組織之鹼性磷酸下降以及佝僂症。此疾病可發生於嬰兒時期,兒童時期,以及成人期。不同型之臨床表現與其鹼性磷酸之基因缺失有關。我們報告了兩位不同型之先天性磷酸缺少症,分別是嬰兒型以及成人型。嬰兒型的病人其臨床表徵為四個月大時出現發育不良,肌肉張力低,以及影像學上有佝僂症之表現。成人型之病人診斷時為二十七歲,臨床之表徵為反覆性骨折以及影像學上出現骨質疏鬆之情形。兩個病人之血中鹼性磷酸皆呈現極低之數值。這兩例是台灣首度發表於文獻報告中之先天性磷酸缺乏症病例。 |
英文摘要 | Hypophosphatasia is a rare inherited metabolic disease characterized by rickets with reduced plasma and tissue alkaline phosphatase activity. It may be present in infancy, childhood, or adulthood. Various clinical manifestations reflect different forms of alkaline phosphatase gene expression. In this report, we present two cases of hypophosphatasia, one of the infantile and the other of the adult form. The infantile case presented with failure to thrive, hypotonia, and radiologic rickets at 4 months old. The adult case had repeated fractures and marked loss of bone density demonstrated by radiographs. Both cases showed extremely low levels of alkaline phosphatase. To the best of our knowledge, they are the first reported patients with hypophosphatasia from the Taiwanese population. |
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