《湘雅儿科精品课件-phenylketoruria》课件.pptVIP

* 中南大学儿科学教研室 第八章第三节 苯丙酮尿症 了解本病的病因及发病机制 (Understanding etiology and pathogenesis) 掌握本病的临床表现及诊断 (Master symptoms ,signs and diagnosis) 了解本病的鉴别诊断 (Understanding differential diagnosis) 苯丙酮尿症 苯丙酮尿症（PKU）是由于苯丙氨酸代谢途径中酶缺陷所致，因患儿尿液中排出大量苯丙氨酸等代谢产物而得名。PKU是氨基酸代谢障碍中常见疾患，同时也是治疗最成功的疾患。(PKU: enzymatic defection in Phenylalanine metabolism approach results in metabolite of phenylalanine discharging from urine.PKU is the most common and successfully curable disease) 早期诊断、合理的饮食是挽救患儿的关键。 (Earlier period diagnosis and reasonable diet is the key) 我国PKU的发病率为1／17000—1／6000，全国每年约有1500—2000名患儿出生(Incidence: 1/17000—1/6000,1500-2000 were born one year.) 苯丙酮尿症 PKU是氨基酸代谢障碍中较常见的一种，属常染色体隐性遗传。(PKU is one of the common disease in AA metabolism and it is autosomal recessive lnheritance.) ?典型PKU是由于患儿肝细胞缺乏苯丙氨酸-4-羟化酶。( Typical PKU :lack of phenylalanine –4– mhydroxylasel) ?非典型PKU是缺乏苯丙氨酸羟化过程中所必需的辅酶。(Atypical PKU:lack of coenzyme) 苯丙酮尿症 苯丙酮尿症 ? 神经系统：智能落后、多动、癫痫等(NS: mental retardation,hyperactivity and seizure.) ?外观( appearance) ?其他：呕吐、湿疹,汗、尿有鼠尿臭味(others: vomiting,eczema,sweating ,mouse smell urine) 苯丙酮尿症 为少数可治性遗传代谢病之一。 ?新生儿期筛查：纸片法(neonatal screening : test paper) ?血浆和尿液氨基酸、有机酸分析(analysis of the amino acid and Organic acid in the plasma and urine.) DNA分析：苯丙氨酸羟化酶的编码基因于12q22-q24.1 DNA analysis: code gene locates in 12q22-q24.1 * * *