查詢結果分析
相關文獻
- Relationships Between Anatomical Characteristics and Permeability Properties in Taiwan-Grown Bamboo Species
- Infantile-Onset Glycogen Storage Disease TypeⅡ (Pompe Disease): Report of a Case with Genetic Diagnosis and Pathological Findings
- Porous Coated Anatomic Total Hip Arthroplasty: 5- to 10-Year Follow Up
- 三種泰國產竹材之解剖與機械性質
- 高護二年級與三年級學生對臨床醫學學習態度之比較
- 高護學生對解剖生理學習態度之相關因素探討
- 家禽之屍體解剖
- 談肩部的解剖結構與肩周炎
- Comparative Anatomy and Histochemical Study of the Seeds of Sedum Formosanum N. E. Br. and Sedum Morrisonense Hayata
- 腰痛的解剖定位診治
頁籤選單縮合
題名 | Infantile-Onset Glycogen Storage Disease TypeⅡ (Pompe Disease): Report of a Case with Genetic Diagnosis and Pathological Findings=嬰孩發病之第二型肝醣貯積症 (龐貝氏症) |
---|---|
作 者 | 鄧堯敦; 蘇文鉁; 侯家瑋; 黃秀芬; | 書刊名 | 長庚醫學 |
卷期 | 27:5 2004.05[民93.05] |
頁次 | 頁379-384 |
分類號 | 417.132 |
關鍵詞 | 龐貝氏症; 解剖; Pompe disease; Autopsy; Acid α-glucosidase; |
語文 | 英文(English) |
中文摘要 | 肝醣貯積症第二型,也稱為龐貝氏症,是一種罕見的染色體隱性遺傳疾病。其病因是由於溶小體(lysosome)內之acidα-gluosidase缺乏。嬰孩發作型的病情最嚴重,大部份病患會在嬰兒時期產生肌肉張力低下及心允肥大的症狀。我們提出一典型之嬰孩發作型龐貝氏症。此病患在8個月大時因吸入性肺炎及肥厚性心病變而死亡。遺傳學檢驗發現α-gluosidase的活或降低,且在α-gluosidase之因因有突變現象。解剖後發現肝醣大量貯積於肝臟心肌及骨肌。另外在脊髓及延髓內也有肝醣貯積的情形,但大腦皮質並未受影響。這也許可以解釋此類病患運動功能不良和深腱反射降低,但是不會有智力退化的臨床現象。 |
英文摘要 | Glycogen storage disease type II (GSD-II), also known as Pompe disease, is a rare auto-somial recessive disease due to deficiency of lysosomal acidα-glucosidase (GGA). The infantile-onset form is the most severe, and most patients present with hypotonia and cardiomyopathy in early infancy. We report on a typical case of Pompe disease in a patient who died at 8 months of age due to aspiration pneumonia and hypertrophic cardiomyopathy. Genetic studies showed deficient GAA activity and mutation of the GAA gene with Gly615Arg (exon 13, G1845A). On autopsy, glycogen had markedly accumulated in the liver, myocardium and skeletal muscle. The neurons of the anterior horn of the spinal cord and medulla were also involved, but the cortex was spared. These neurological-histologic findings may expain the clinical features of poor motor function, decreased deep tendon reflexes and lack of mental retardation. |
本系統之摘要資訊系依該期刊論文摘要之資訊為主。