https://scholars.lib.ntu.edu.tw/handle/123456789/537150
標題: | Hereditary fructose intolerance presenting as Reye's-like syndrome: Report of one case | 作者: | Yang T.-Y. HUEY-LING CHEN YEN-HSUAN NI WUH-LIANG HWU MEI-HWEI CHANG |
公開日期: | 2000 | 卷: | 41 | 期: | 4 | 起(迄)頁: | 218-220 | 來源出版物: | Acta Paediatrica Taiwanica | 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. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-0033816094&partnerID=40&md5=d60b1b1582f2ddeb29930de3d4315a31 https://scholars.lib.ntu.edu.tw/handle/123456789/537150 |
ISSN: | 0001-6578 | SDG/關鍵字: | fructose; fructose bisphosphate aldolase; article; autosomal recessive disorder; case report; child; clinical feature; diagnostic procedure; diet restriction; differential diagnosis; disease course; female; hereditary fructose intolerance; human; Reye syndrome; treatment outcome; Child; Female; Fructose Intolerance; Fructose-Bisphosphate Aldolase; Humans; Reye Syndrome |
顯示於: | 醫學系 |
在 IR 系統中的文件,除了特別指名其著作權條款之外,均受到著作權保護,並且保留所有的權利。