頁籤選單縮合
題 名 | Diagnosis of Mucopolysaccharidosis Type IIIB=黏多醣儲積症IIIB型之診斷 |
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作 者 | 蔣書娟; 胡務亮; 吳佳城; 侯家瑋; 王作仁; | 書刊名 | 中華民國小兒科醫學會雜誌 |
卷 期 | 37:5 民85.09-10 |
頁 次 | 頁320-323+387 |
分類號 | 417.5 |
關鍵詞 | 黏多醣儲積症IIIB型; Sanfilippo症; 溶小體儲積症; Mucopolysaccharidosis type IIIB; Sanfilippo disease; Lysosomal storage disease; |
語 文 | 英文(English) |
中文摘要 | 黏多醣儲積症(MPS)是屬於溶小體儲積症中的一群。其中,第三型(Sanfilippo症)是非常複雜的,也很少在台灣被提及。經由對糖胺酐(Glycosaminoglycans, GAGs)定性和定量的分析及酵素的測定,兩例MPS IIIB被診斷出來。這兩個病人都有中等程度的智障、粗糙的臉型及多發性成骨不全(Dysostosis multiplex)。依靠這些臨床表現,並不能和MPS其他類型區分。患者尿中糖胺肝總量輕度提昇,但其中以Heparan sulfate最高。皮膚纖維芽細胞a-N-acetyl-glucosaminidase活性明顯降低。因此,對MPS的診斷,尤其是第三型,糖胺酐分析及酵素測定都是不可缺少的。 |
英文摘要 | Mucopolysaccharidosis (MPS) includes a group of lysosomal storage diseases. Among them, type III (Sanfilippo) disease is rarely described in Taiwan because of their complexity. With accurate quantifying and precise separation of urinary glycosaminoglycans (GAGs), and specific enzyme measurements, two cases of MPS IJIB disease were able to be described. They both had mild-to-moderate degrees of mental retardation, facial dysmorphism and dysostosis multiplex which do not differ from other types of MPS. Total amounts of GAGs in the urine were only mildly elevated but, among them, heparan sulfate was the highest. Skin fibroblasts a-N-acetyl-glucosaminidase activities were low in both cases. Therefore, analysis of GAGs and enzyme assays are important for the diagnosis of patients suspected to have MPS, especially type III disease. |
本系統中英文摘要資訊取自各篇刊載內容。