小儿肝豆状核变性41例临床分析  

A clinical analysis of children hepatolenticular degeneration in 41 patients

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作  者:陈冬梅[1] 刘丽[2] 程静[2] 李秀珍[2] 周志红[2] 苏玲[2] 

机构地区:[1]广州医学院 [2]广州市儿童医院内分泌代谢科,广东广州510000

出  处:《现代生物医学进展》2009年第12期2313-2315,共3页Progress in Modern Biomedicine

摘  要:目的:分析小儿肝豆状核变性的临床特点。方法:对41例小儿肝豆状核变性患儿的临床表现和治疗作回顾性分析。结果:(1)首发症状以肝功能受损为主者36例,以神经系统受累为主者4例;同时以肝病和神经系统为主者1例(2)41例检查角膜K-F环,阳性3例,阳性率7.32%。(3)实验室检查谷丙转氨酶和24h尿铜均有不同程度的升高,铜蓝蛋白均降低。(4)肝损害严重时血氨常升高、尿有机酸分析、血氨基酸分析常有异常表现。结论:本病临床表现复杂多样,易被误诊,加深对本病的认识,对提高诊断水平及争取早期治疗具有重要意义。血氨、尿有机酸分析和血浆氨基酸分析可作为反映病情的指标。Objective: To analyze the clinical characteristics of children hepatolenticular degeneration. Methods: 41 patients with Wilson's disease were reviewed. Their clinical feature ,diagnosis and therapy were Studied. Results: ( 1 )The first onset symptoms in 36 was manifestation of liver and in 4 was manifestation of central nervous system (CNS); in 1 was both manifestation of liver and CNS (2) The positive rate of cornea Kayser-Fleischer ring was 7.32% (3/41). (3)All patients had increased alanine aminotransferase, urinary cop- per excretions and decreased ceruloplasmin. (4)severe liver dysfunction made increased blood ammonia, abnormal urine organic acid and Plasma amino acid. Conclusion: The clinical characteristics are diverse, which make the misdiagnosis rate very highly. To deepen recog- nize hepatolenticular degeneration is helpful to the early clinic diagnosis and therapy. Blood ammonia, urine organic acid and Plasma amine acid would be some index which could image the state of an illness.

关 键 词:肝豆状核变性 血氨 尿有机酸 血浆氨基酸 

分 类 号:R725.8[医药卫生—儿科]

 

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