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A case of Gaucher disease
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摘要:
<正>1病例资料患者女性,26岁,因"反复乏力8个月"入院,2014年12月因妊娠查体发现WBC 3×10~9/L、PLT 50×10~9/L、Hb 90 g/L,转铁蛋白4.066 g/L,肝功能正常,腹部超声提示肝脾增大,自觉轻度乏力。2015年3月于当地医院查肝功能:Alb 32.6 g/L,ALP167 U/L,TG 5.36 mmol/L。4月底骨髓穿刺涂片提示:骨髓增生
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Key words:
- Gaucher disease /
- case reports
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[1]ZION YC,PAPPADOPULOS E,WAJNRAJCH M,et al.Rethinking fatigue in Gaucher disease[J].Orphanet J Rare Dis,2016,29(4):1-7. [2]MHANNI AA,KOZENKO M,HARTLEY JN.Successful therapy for protein-losing enteropathy caused by chronic neuronopathic Gaucher disease[J].Mol Genet Metab Rep,2015,29(12):13-15. [3]KOPPE T,DONEDA D,SIEBERT M.The prognostic value of the serum ferritin in a southern Brazilian cohort of patients with Gaucher disease[J].Genet Mol Biol,2016,39(3):30-34. [4]LINARI S.Clinical manifestations and management of Gaucher disease[J].Clin Cases Miner Bone Metab,2015,12(2):157-164. [5]MANISHA B,THOMAS AB,JOEL C,et al.Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States[J].Mol Genet Metab,2016,117(2):95-103. [6]SECHI A,DARDIS A,BEMBI B.Profile of eliglustat tartrate in the management of Gaucher disease[J].Ther Clin Risk Manag,2016,11(1):53-58. -
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