以慢性脾大和贫血为主要表现的戈谢病1例报告

吉 晓燕, 石 青武, 李 文倩, 解友 邦*
青海省人民医院血液科

摘要


成人患者长期慢性贫血伴脾大的，合并造血原料缺乏，但补充造血原料效果不佳，同时排除脾大的常见原因之外后，骨穿未见明显血液系统典型的表现之外，尤其是未发现典型的戈谢细胞的情况下，血液系统少见疾病溶酶体贮积病导致的糖脂代谢疾病不能完全排除，建议完善相关检查，戈谢病相关生物学标记物及基因检查，避免漏诊。

关键词


脾大；贫血；戈谢病

全文:

PDF


参考


[1]FERRAZ M J, KALLEMEIJN W W, MIRZAIAN M, et al. Gaucher disease and Fabry disease: new markers and insights in pathophysiology for two distinct glycosphingolipidoses [J]. Biochim Biophys Acta, 2014, 1841(5): 811-25.

[2]PETERS H, ELLAWAY C, NICHOLLS K, et al. Treatable lysosomal storage diseases in the advent of disease-specific therapy [J]. Intern Med J, 2020, 50 Suppl 4: 5-27.

[3]MANGER B, MENGE E, SCHAEFER R, et al. [Gaucher disease, Fabry disease and mucopolysaccharidosis type I--how can the rheumatologist recognise these patients?[J]. Z Rheumatol, 2006, 65(1): 32, 4-43.

[4]PASTORES G M, HUGHES D A. Gaucher Disease [M]//ADAM M P, EVERMAN D B, MIRZAA G M, et al. GeneReviews((R)). Seattle (WA). 1993.

[5]KLEYTMAN N, RUAN J, RUAN A, et al. Incremental biomarker and clinical outcomes after switch from enzyme therapy to eliglustat substrate reduction therapy in Gaucher disease [J]. Mol Genet Metab Rep, 2021, 29: 100798.

[6]SMID B E, FERRAZ M J, VERHOEK M, et al. Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients [J]. Orphanet J Rare Dis, 2016, 11: 28.

[7]MISTRY P K, BALWANI M, CHARROW J, et al. Real-world effectiveness of eliglustat in treatment-naive and switch patients enrolled in the International Collaborative Gaucher Group Gaucher Registry [J]. Am J Hematol, 2020, 95(9): 1038-46.

[8]MISTRY P K, LUKINA E, BEN TURKIA H, et al. Clinical outcomes after 4.5 years of eliglustat therapy for Gaucher disease type 1: Phase 3 ENGAGE trial final results [J]. Am J Hematol, 2021, 96(9): 1156-65.

[9]LEE N C, CHIEN Y H, WANG C H, et al. Safety and efficacy of eliglustat combined to enzyme replacement therapy for lymphadenopathy in patients with Gaucher disease type 3 [J]. Mol Genet Metab Rep, 2022, 31: 100867.

[10]BENNETT L L, MOHAN D. Gaucher disease and its treatment options [J]. Ann Pharmacother, 2013, 47(9): 1182-93.

[11]DUMITRASCU D L. Gaucher disease: an update [J]. Med Pharm Rep, 2021, 94(Suppl No 1): S54-S6.


Refbacks

  • 当前没有refback。