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題名 | A 20-Year Follow-Up of a Male Patient with Type Ia Glycogen Storage Disease=第一型肝醣儲積症男性病人之20年追蹤 |
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作者 | 侯家瑋; 王作仁; Hou, Jia-woei; Wang, Tso-ren; |
期刊 | 長庚醫學 |
出版日期 | 20030400 |
卷期 | 26:4 2003.04[民92.04] |
頁次 | 頁283-287 |
分類號 | 415.53 |
語文 | eng |
關鍵詞 | 肝醣儲積症; 痛風; 黃色瘤; 肝腺瘤; 腎結石; Glycogen storage disease; Gout; Xanthomatosis; Hepatic adenoma; Nephrolithiasis; |
中文摘要 | 肝醣儲積症(GSD)是一群罕見的肝醣代謝異常疾病。吾等報告一名追蹤20年之男性第Ia型GSD(GSD Ia)病例。他在6歲時因生長遲滯、低血糖及肝腫大,經由肝穿刺後證實為葡萄糖6磷酸(G6Pase)缺乏之GSD Ia患者。之後8年以生米粉治療而有較佳的生長,夜之後失聯。17歲時他出現痛風性關節炎及全身性黃色瘤而又復診。20歲時因腹痛而發現肝臟腺瘤,23歲出現尿路結石,24歲時上消化道出血,26歲時出現多發性神經根叢神經病變及急性腎衰竭而需以透析治療。此病例顯示GSD Ia全身病變自然病程,密切的飲食控制及追蹤亦是很重要的。 |
英文摘要 | Glycogen storage diseases (GSDs) or glycogenoses comprise several rare inherited diseases caused by abnormalities of the enzymes that reulate the synthesis or degradation of glycogen. We report on a male patients with type Ia GSD (GSD Ia) who was followed-up for more than 20 years. He had been diagnosed with GSD Ia based on biochemical tests and the glucose-6-phosphatase (G6Pase) enzyme assay from a Liver biopsy at 6 years old, due to problems of hpatomegaly, growth retardiation, and recurrent hypoglycemic episodes. The introduction of uncooked cornstarch improved his quality of life only in the first 8-year follow-up period. At 17 years old, gouty arthritis with multiple tophi and generalized xamthomatosis developed. Later, hepatocellular adenoma, nephrolithiasis, and gastrointestinal bleeding occurred at the age of 20, 23, and 24 years, respectively. At 26 yearsold, he suffered from acute renal failure and ployardiculoplexopathy. The problem of delayed puberty persisted. The story of this patient illustrates the multisystemic nature of GSD Ia and high-lights the need for careful dieteary therapy and long-term follow-term follow-up. |
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