ISSN 1674-3865  CN 21-1569/R
主管:国家卫生和计划生育委员会
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

Chinese Pediatrics of Integrated Traditional and Western Medicine ›› 2022, Vol. 14 ›› Issue (1): 1-2.doi: 10.3969/j.issn.1674-3865.2022.01.001

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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

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