ISSN 1674-3865  CN 21-1569/R
主管：国家卫生健康委员会
主办：中国医师协会
　　　辽宁省基础医学研究所
　　　辽宁中医药大学附属医院
中国中西医结合儿科学

中国中西医结合儿科学 ›› 2022, Vol. 14 ›› Issue (1): 1-2.doi: 10.3969/j.issn.1674-3865.2022.01.001

• 小儿血液系统疾病专栏 •    下一篇

以低磷血症伴凝血及肝功能异常为首发表现的1型酪氨酸血症

刘苏颖, 麻宏伟   

  1. 110000 沈阳，中国医科大学附属盛京医院发育儿科

  • 收稿日期:2021-03-08 出版日期:2022-02-25 上线日期:2022-02-25
  • 通讯作者: 麻宏伟，E-mail：mahongwei1960@163.com

One case of type 1 tyrosinemia with the first-onset manifestation being hypophosphatemia with coagulation and liver dysfunction

LIU Suying, MA Hongwei   

  1. Department of Pediatric Development，Shengjing Hospital of China Medical University, Shenyang 110000，China

  • Received:2021-03-08 Published:2022-02-25 Online:2022-02-25
  • Contact: MA Hongwei，E-mail：mahongwei1960@163.com

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摘要： 患儿为26个月男孩，患低磷性佝偻病且伴凝血及肝功能异常，临床表现为走路不稳，鼻衄、恶心呕吐。通过对患儿低磷性佝偻病病因的剖析以及辅助化验检查的深入，患儿最终诊断为1型酪氨酸血症，由此，我们重新梳理了低磷性小儿佝偻病的诊疗流程。


关键词:

佝偻病, 低磷性佝偻病, 范可尼综合征, 酪氨酸血症1型

Abstract: A boy, aged 26 months, had hypophosphoric rickets with abnormal blood coagulation and liver function. The clinical manifestations were unsteady walking, epistaxis, nausea and vomiting. Through the analysis of the etiology of hypophosphoric rickets and the in-depth auxiliary examination, the child was finally diagnosed with type 1 tyrosinemia. Thus, we reanalyzed the diagnosis and treatment process of hypophosphoric rickets in children.


Key words: Rickets, Hypophosphoric rickets, Fanconi syndrome, Type 1 tyrosinemia