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  

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

作　　者：刘苏颖 麻宏伟[1] LIU Suying;MA Hongwei(Department of Pediatric Development,Shengjing Hospital of China Medical University, Shenyang 110000,China)

机构地区：[1]中国医科大学附属盛京医院发育儿科,沈阳110000

出　　处：《中国中西医结合儿科学》2022年第1期1-2,共2页Chinese Pediatrics of Integrated Traditional and Western Medicine

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。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.

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 

分 类 号：R725.5[医药卫生—儿科]