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1
Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.戈谢病血液学和肿瘤血液学方面的管理建议。
Br J Haematol. 2007 Sep;138(6):676-86. doi: 10.1111/j.1365-2141.2007.06701.x. Epub 2007 Jul 26.
2
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry.2123 例戈谢氏病 1 型患者的癌症风险和丙种球蛋白异常在国际戈谢氏病组织戈谢氏病注册研究中的表现。
Am J Hematol. 2022 Oct;97(10):1337-1347. doi: 10.1002/ajh.26675. Epub 2022 Aug 24.
3
Immunoglobulin Abnormalities in Gaucher Disease: an Analysis of 278 Patients Included in the French Gaucher Disease Registry.戈谢氏病中的免疫球蛋白异常:对纳入法国戈谢氏病登记处的 278 例患者的分析。
Int J Mol Sci. 2020 Feb 13;21(4):1247. doi: 10.3390/ijms21041247.
4
Gaucher disease and monoclonal gammopathy: a report of 17 cases and impact of therapy.戈谢病与单克隆丙种球蛋白病:17例报告及治疗影响
Blood Cells Mol Dis. 2009 Jul-Aug;43(1):138-9. doi: 10.1016/j.bcmd.2009.04.002. Epub 2009 May 8.
5
Multiple myeloma arising from monoclonal gammopathy of undetermined significance in a patient with Gaucher's disease.一名患有戈谢病的患者,其意义未明的单克隆丙种球蛋白病引发了多发性骨髓瘤。
Arch Pathol Lab Med. 1997 Oct;121(10):1108-11.
6
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.巴西和美国队列中戈谢病 1 型儿童和成人的γ球蛋白血症筛查结果。
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7
[Hematological aspects of Gaucher disease].[戈谢病的血液学方面]
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8
Enzyme replacement therapy leading to improvement in myeloma indices in a patient with concomitant Gaucher disease.酶替代疗法可改善合并戈谢病患者的骨髓瘤指标。
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Case report: serendipitous Gaucher's disease presenting as elevated erythrocyte sedimentation rate due to monoclonal gammopathy.病例报告:因单克隆丙种球蛋白病导致红细胞沉降率升高而偶然发现的戈谢病。
Am J Med Sci. 1991 Jun;301(6):393-4. doi: 10.1097/00000441-199106000-00007.
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Synchronous multiple myeloma and Gaucher disease.同步性多发性骨髓瘤与戈谢病。
Hematol Oncol Stem Cell Ther. 2020 Mar;13(1):42-45. doi: 10.1016/j.hemonc.2019.07.001. Epub 2019 Oct 9.

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Age-related inflammatory biomarkers in early-onset osteoporosis in females with Gaucher disease.戈谢病女性早发性骨质疏松症中与年龄相关的炎症生物标志物
Front Endocrinol (Lausanne). 2025 Jul 2;16:1606218. doi: 10.3389/fendo.2025.1606218. eCollection 2025.
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The Complexities of Diagnosis with Co-Existing Gaucher Disease and Hemato-Oncology-A Case Report and Review of the Literature.戈谢病与血液肿瘤并存时的诊断复杂性——病例报告及文献综述
J Clin Med. 2023 Aug 25;12(17):5518. doi: 10.3390/jcm12175518.
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Hemostatic Abnormalities in Gaucher Disease: Mechanisms and Clinical Implications.戈谢病中的止血异常:机制与临床意义
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Genetic Analysis of Acid β-Glucosidase in Patients with Multiple Myeloma from Central Taiwan: A Small-Cohort Case-Control Study.台湾中部多发性骨髓瘤患者酸性β-葡萄糖苷酶的基因分析:一项小队列病例对照研究。
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Non-immune Hemolysis in Gaucher Disease and Review of the Literature.戈谢病中的非免疫性溶血及文献综述
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Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review.戈谢病 1 型患者的内分泌和代谢紊乱:综述。
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Gaucher Disease in Bone: From Pathophysiology to Practice.戈谢病骨骼表现:从病理生理学到临床实践
J Bone Miner Res. 2019 Jun;34(6):996-1013. doi: 10.1002/jbmr.3734. Epub 2019 Jun 24.
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Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.1型戈谢病男性患者的皮质基底节综合征:对神经谱系认识的扩展
Mol Genet Metab Rep. 2018 Oct 18;17:69-72. doi: 10.1016/j.ymgmr.2018.10.001. eCollection 2018 Dec.
10
Gaucher disease and chronic myeloid leukemia: first reported patient receiving enzyme replacement and tyrosine kinase inhibitor therapies simultaneously.戈谢病与慢性髓性白血病:首例同时接受酶替代疗法和酪氨酸激酶抑制剂治疗的患者报道。
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本文引用的文献

1
Sternal marrow hemosiderin; a method for the determination of available iron stores in man.胸骨骨髓含铁血黄素;一种测定人体可利用铁储备的方法。
J Lab Clin Med. 1948 Jan;33(1):81-6.
2
Hyperimmunoglobulinemia in pediatric-onset type 1 Gaucher disease and effects of enzyme replacement therapy.儿童期1型戈谢病中的高免疫球蛋白血症及酶替代疗法的效果
J Pediatr Hematol Oncol. 2007 Jul;29(7):451-7. doi: 10.1097/MPH.0b013e31806451d3.
3
Molecular and clinical aspects of iron homeostasis: From anemia to hemochromatosis.铁稳态的分子与临床方面:从贫血到血色素沉着症
Wien Klin Wochenschr. 2006 Aug;118(15-16):442-62. doi: 10.1007/s00508-006-0653-7.
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Altitude above sea level as a variable for definition of anemia.海拔高度作为贫血定义的一个变量。
Blood. 2006 Sep 15;108(6):2131; author reply 2131-2. doi: 10.1182/blood-2006-04-016352.
5
The phenotype of normal, reactive and malignant plasma cells. Identification of "many and multiple myelomas" and of new targets for myeloma therapy.正常、反应性和恶性浆细胞的表型。“多发性骨髓瘤”的鉴定及骨髓瘤治疗新靶点
Haematologica. 2006 Sep;91(9):1234-40.
6
Gaucher disease and multiple myeloma.戈谢病和多发性骨髓瘤。
Leuk Lymphoma. 2006 Jul;47(7):1365-8. doi: 10.1080/10428190600565453.
7
Platelet function and coagulation abnormalities in type 1 Gaucher disease patients: effects of enzyme replacement therapy (ERT).1型戈谢病患者的血小板功能和凝血异常:酶替代疗法(ERT)的效果
J Thromb Haemost. 2006 Aug;4(8):1831-3. doi: 10.1111/j.1538-7836.2006.02037.x.
8
Evidence-based recommendations for monitoring bone disease and the response to enzyme replacement therapy in Gaucher patients.戈谢病患者骨病监测及酶替代疗法反应的循证医学建议
Curr Med Res Opin. 2006 Jun;22(6):1045-64. doi: 10.1185/030079906X104623.
9
Interleukin-6 induces hepcidin expression through STAT3.白细胞介素-6通过信号转导和转录激活因子3诱导铁调素表达。
Blood. 2006 Nov 1;108(9):3204-9. doi: 10.1182/blood-2006-06-027631. Epub 2006 Jul 11.
10
Aggregation of red blood cells in patients with Gaucher disease.戈谢病患者红细胞的聚集。
Br J Haematol. 2006 Aug;134(4):432-7. doi: 10.1111/j.1365-2141.2006.06199.x. Epub 2006 Jul 10.

戈谢病血液学和肿瘤血液学方面的管理建议。

Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease.

作者信息

Hughes Derralynn, Cappellini Maria Domenica, Berger Marc, Van Droogenbroeck Jan, de Fost Maaike, Janic Dragana, Marinakis Theodore, Rosenbaum Hanna, Villarubia Jesús, Zhukovskaya Elena, Hollak Carla

机构信息

Department of Academic Haematology, Royal Free Hospital and University College Medical School, London, UK.

出版信息

Br J Haematol. 2007 Sep;138(6):676-86. doi: 10.1111/j.1365-2141.2007.06701.x. Epub 2007 Jul 26.

DOI:10.1111/j.1365-2141.2007.06701.x
PMID:17655728
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2040230/
Abstract

Current knowledge of the haematological and onco-haematological complications of type 1 Gaucher disease has been reviewed with the aim of identifying best clinical practice for treatment and disease management. It was concluded that: (i) Awareness of typical patterns of cytopenia can help clinicians distinguish haematological co-morbidities. (ii) Red blood cell studies and complete iron metabolism evaluation at baseline are recommended. (iii) Haemoglobin levels defining anaemia should be raised and used in Gaucher disease treatment and monitoring. (iv) Surgeons should be aware of potential bleeding complications during surgery in Gaucher patients. The higher incidence of multiple myeloma in Gaucher disease suggests that Gaucher patients should have their immunoglobulin profile determined at diagnosis and monitored every 2 years (patients <50 years) or every year (patients >50 years). If monoclonal gammopathy of undetermined significance (MGUS) is found, general MGUS guidelines should be followed. Future studies should focus on the utility of early treatment to prevent immunoglobulin abnormalities and multiple myeloma.

摘要

对1型戈谢病血液学和肿瘤血液学并发症的现有知识进行了综述,目的是确定治疗和疾病管理的最佳临床实践。得出以下结论:(i)认识血细胞减少的典型模式有助于临床医生区分血液学合并症。(ii)建议在基线时进行红细胞研究和完整的铁代谢评估。(iii)在戈谢病治疗和监测中,应提高用于定义贫血的血红蛋白水平并加以应用。(iv)外科医生应意识到戈谢病患者手术期间潜在的出血并发症。戈谢病中多发性骨髓瘤的发病率较高,这表明戈谢病患者应在诊断时测定免疫球蛋白谱,并每2年(年龄<50岁的患者)或每年(年龄>50岁的患者)进行监测。如果发现意义未明的单克隆丙种球蛋白病(MGUS),应遵循一般MGUS指南。未来的研究应侧重于早期治疗预防免疫球蛋白异常和多发性骨髓瘤的效用。