頁籤選單縮合
題名 | Hereditary Fructose Intolerance Presenting as Reye's-like Syndrome:Report of One Case=以類雷氏症候群表現之遺傳性果糖不耐症:一病例報告 |
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作者姓名(中文) | 楊宗彥; 陳慧玲; 倪衍玄; 胡務亮; 張美惠; | 書刊名 | 臺灣兒科醫學會雜誌 |
卷期 | 41:4 民89.07-08 |
頁次 | 頁218-220+233 |
分類號 | 417.592 |
關鍵詞 | 遺傳性果糖不耐症; 6-bisphosphate aldolase酵素缺乏; 類雷氏症候群; Hereditary fructose intolerance; Fructose-1; 6-bisphosphate aldolase deficiency; Reye's-like syndrome; |
語文 | 英文(English) |
中文摘要 | 遺傳性果糖不耐症爲一罕見之自體隱性遺傳疾病,其主要病因是果糖代謝過程中fructose-1;6-bisphosphate aldoase酵素缺乏。其臨床症狀的出現主要是始於斷奶時期開始餵食副良品,如果長其餵食含有果糖食品,就可能出現餵食困難、嘔吐、生長發育遲緩的症狀,甚至造成肝臟腫大、肝功能異常、凝血功能異常、腎小管功能失常,嚴重者可導致死亡。患者可能因此而對蔬果或糖果有異常嫌惡以避免進食之後伴隨而來的腸胃不適、腹痛或低血糖等症狀。我們在此提出一位病例,一開始在嬰兒期出現嘔吐、抽痙、肝臟腫大、肝功能異常等症狀。病人在二十個月大時經肝切片診斷爲類雷氏症候群。這位病患之後因爲在進食水果會有冒冷汗、腹痛及腸胃不適的現象,所以對水菓有異常嫌惡感甚至於糖果等甜食都會自動去避免。因爲病人的臨床表現,特殊的飲食嫌惡,並經由果糖耐受性試驗使我們因而直到九歲大才確定遺傳性果糖不耐症的這個診斷。我們這位病患在之後固定在門診追蹤,其生長發育及肝功能至今仍維持正常。就我們所知,台灣文獻上至今尚未有遺傳性果糖不耐症的病例報告。 |
英文摘要 | Hereditary fructose intolerance (HFI) is an autosomal recessive disease caused by catalytic deficiency of aldolase B (fructose-1, 6-bisphosphate aldolase). Herein we report on a case of hereditary fructose intolerance with initial presentation of episodic unconsciousness, seizure, hypoglycemia, hepatomegaly, and abnormal liver function since the patient was 11 months old. She was diagnosed as Reye’s-like syndrome according to a liver biopsy done at 20 months of age. As she grew up, cold sweating, abdominal pain or gastrointestinal discomfort shortly after the intake of fruits was noted and she developed an aversion to fruits, vegetables and sweet-tasting foods. At 9 years of age, a fructose tolerance test signified a positive result that induced hypoglycemia, transient hypophosphatemia, hyperuricaemia, elevation of serum magnesium, and accumulation of lactic acid. Appropriate dietary management and precautions were recommended. The patient has been symptom-free and exhibited normal growth and development when followed up to 12 years of age. |
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