新生儿遗传性酪氨酸血症Ⅰ型临床特点及进展  

Clinical characteristics and process of hereditary tyrosinemia type I in neonate

作　　者：张芳芳[1] 张佳磊[1] 马健[1] 吴景才[1] Zhang Fangfang;Zhang Jialei;Ma Jian;Wu Jingcai(Department of Pediatrics,Zaozhuang Maternal and Child Health Hospital in Shandong Province,Zaozhuang 277100,China)

机构地区：[1]枣庄市妇幼保健院新生儿科,277100

出　　处：《国际遗传学杂志》2018年第5期355-359,共5页International Journal of Genetics

摘　　要：目的结合文献资料分析遗传性酪氨酸血症的临床特点。方法通过患儿临床表现及相关实验室检查结果对临床确诊的1例新生儿遗传性酪氨酸血症Ⅰ型患儿进行分析，结合文献资料，分析酪氨酸血症的分类、临床表现、诊断、鉴别诊断及治疗等。结果酪氨酸血症是少见的常染色体隐性遗传性氨基酸代谢疾病。结论临床遇到不明原因的反应差患儿，需要注意排除，血尿氨基酸分析是其主要敏感诊断指标之一，为避免患儿再出生，母亲再次妊娠时应作产前DNA诊断，为优生优育提供了帮助。ObjectiveTo analyze and summarize clinical characteristics of hereditary tyrosinemia type Ⅰ in neonate.MethodsA case of neonatal hereditary tyrosinemia type Ⅰ was diagnosed by clinical manifestation and laboratory examination. The classification, clinical manifestation, diagnosis, differential diagnosis and treatment of neonatal hereditary tyrosinemia were analyzed in combination with literature.ResultsTyrosinemia is a rare autosomal recessive amino acid metabolic disorder.ConclusionIn order to avoid rebirth, prenatal DNA diagnosis should be made when the mother is pregnant again, which is helpful for eugenic and child-bearing.

关 键 词：酪氨酸血症 血尿氨基酸分析 

分 类 号：R722.1[医药卫生—儿科]