Fabry病的肾脏心脏病变研究进展
Advances in the Study of Renal Cardiac Lesions in Fabry Disease
DOI: 10.12677/ACM.2023.132282, PDF,   
作者: 袁占渝, 张 丽*：新疆医科大学第一附属医院，新疆 乌鲁木齐；朱晨晨：兴义市人民医院，贵州 兴义
关键词: 法布里病；肾脏病变；心脏病变；酶替代治疗；Fabry Disease； Renal Lesions； Cardiac Lesions； Enzyme Replacement Therapy
摘要: 法布雷病是一种罕见的Ｘ连锁遗传性溶酶体脂质贮积病，是由于GLA基因突变导致α-半乳糖酶A (α-GalA)活性下降或缺失，引起鞘糖脂代谢紊乱，造成三己糖酰基鞘脂醇(Gb3)及其衍生物脱乙酰基三己糖酰基鞘脂醇(globtriaosyl sphingosine, Lyso-GL-3)等糖鞘脂在组织中进行性累积，最终导致多器官系统病变，心脏肾脏受累最为明显，但该病临床表现缺乏特异性，需检测α-GalA活性、标志物Gb3和Lyso-GL-3的测定、组织病理及基因检测等综合诊断，现就该病的病因、肾脏病变、心脏病变的发病机制及临床表现与治疗，本文对此作一综述。
Abstract: Fabray disease is a rare X-linked hereditary lysosomal lipid storage disease caused by mutations in the GLA gene resulting in decreased or absent α-galactosidase A (α-GalA) activity, resulting in dis-ruption of sphingolipid metabolism and the progressive accumulation of glycosphingolipids such as trihexosyl sphingosine (Gb3) and its derivative deacetyl trihexosyl sphingosine (globtriaosyl sphingosine, Lyso-GL-3). However, the clinical manifestations of this disease lack specificity, and a comprehensive diagnosis of α-GalA activity, determination of the markers Gb3 and Lyso-GL-3, his-topathology and genetic testing is required. This article reviews the etiology, pathogenesis, clinical manifestation and treatment of kidney disease and heart disease.
文章引用：袁占渝, 朱晨晨, 张丽. Fabry病的肾脏心脏病变研究进展[J]. 临床医学进展, 2023, 13(2): 2025-2031. https://doi.org/10.12677/ACM.2023.132282

参考文献

[1] Eng, C.M., et al. (2006) Fabry Disease: Guidelines for the Evaluation and Management of Multi-Organ System In-volvement. Genetics in Medicine, 8, 539-548. [Google Scholar] [CrossRef] [PubMed]
[2] Zarate, Y.A. and Hopkin, R.J. (2008) Fabry’s Disease. The Lancet, 372, 1427-1435. [Google Scholar] [CrossRef] 
[3] Michaud, M., et al. (2020) When and How to Diagnose Fabry Disease in Clinical Practice. The American Journal of the Medical Sciences, 360, 641-649. [Google Scholar] [CrossRef] [PubMed]
[4] Miller, J.J., Kanack, A.J. and Dahms, N.M. (2020) Progress in the Understanding and Treatment of Fabry Disease. Biochimica et Biophysica Acta—General Subjects, 1864, Article ID: 129437. [Google Scholar] [CrossRef] [PubMed]
[5] McCafferty, E.H. and Scott, L.J. (2019) Migalastat: A Review in Fabry Disease. Drugs, 79, 543-554. [Google Scholar] [CrossRef] [PubMed]
[6] 中国法布雷病专家协作组. 中国法布雷病诊疗专家共识(2021年版) [J]. 中华内科杂志, 2021, 60(4): 321-330.
[7] Van der Tol, L., et al. (2016) Cornea Verticillata Supports a Diagnosis of Fabry Disease in Non-Classical Phenotypes: Results from the Dutch Cohort and a Systematic Review. British Journal of Ophthalmology, 100, 3-8. [Google Scholar] [CrossRef] [PubMed]
[8] 李小雪, 刘小荣. 儿童法布里病的诊断及治疗进展[J]. 罕见病研究, 2022, 1(3): 352-358.
[9] Anastasakis, A., Papatheodorou, E. and Steriotis, A.K. (2013) Fabry Disease and Cardiovascular Involvement. Current Pharmaceutical Design, 19, 5997-6008. [Google Scholar] [CrossRef] [PubMed]
[10] Dinu, I.R. and Firu, Ş.G. (2021) Fabry Disease—Current Data and Therapeutic Approaches. Romanian Journal of Morphology and Embryology, 62, 5-11. [Google Scholar] [CrossRef] 
[11] Alroy, J., Sabnis, S. and Kopp, J.B. (2002) Renal Pathology in Fabry Disease. Journal of the American Society of Nephrology, 13, S134-S138. [Google Scholar] [CrossRef] 
[12] Germain, D.P. (2010) Fabry Disease. Orphanet Journal of Rare Diseases, 5, 30. [Google Scholar] [CrossRef] [PubMed]
[13] Mehta, A., et al. (2004) Fabry Disease Defined: Baseline Clinical Manifestations of 366 Patients in the Fabry Outcome Survey. European Journal of Clinical Investigation, 34, 236-242. [Google Scholar] [CrossRef] [PubMed]
[14] Branton, M.H., et al. (2002) Natural History of Fabry Re-nal Disease: Influence of Alpha-Galactosidase A Activity and Genetic Mutations on Clinical Course. Medicine (Balti-more), 81, 122-138. [Google Scholar] [CrossRef] [PubMed]
[15] Branton, M., Schiffmann, R. and Kopp, J.B. (2002) Natural History and Treatment of Renal Involvement in Fabry Disease. Journal of the American Society of Nephrology, 13, S139-S143. [Google Scholar] [CrossRef] 
[16] Yogasundaram, H., et al. (2017) Clinical Features, Diagnosis, and Management of Patients with Anderson-Fabry Cardiomyopathy. The Canadian Journal of Cardiology, 33, 883-897. [Google Scholar] [CrossRef] [PubMed]
[17] Putko, B.N., et al. (2015) Anderson-Fabry Cardio-myopathy: Prevalence, Pathophysiology, Diagnosis and Treatment. Heart Failure Reviews, 20, 179-191. [Google Scholar] [CrossRef] [PubMed]
[18] Umer, M., et al. (2023) Cardiac Involvement in Fabry Disease and the Role of Multimodality Imaging in Diagnosis and Disease Monitoring. Current Problems in Cardiology, 48, Article ID: 101439. [Google Scholar] [CrossRef] [PubMed]
[19] 中国法布里病专家协作组. 中国法布里病(Fabry病)诊治专家共识[J]. 中华医学杂志, 2013, 93(4): 243-247.
[20] Patel, V., et al. (2015) Clinical and Genetic Predictors of Major Cardiac Events in Patients with Anderson-Fabry Disease. Heart, 101, 961-966. [Google Scholar] [CrossRef] [PubMed]
[21] Akhtar, M.M. and Elliott, P.M. (2018) Anderson-Fabry Disease in Heart Failure. Biophysical Reviews, 10, 1107-1119. [Google Scholar] [CrossRef] [PubMed]
[22] Del, P.M., et al. (2018) Fabry Nephropathy: An Evidence-Based Narrative Review. Kidney and Blood Pressure Research, 43, 406-421. [Google Scholar] [CrossRef] [PubMed]
[23] Nowicki, M., et al. (2020) Enzyme Replacement Therapy in Fabry Disease in Poland: A Position Statement. Polish Archives of Internal Medicine, 130, 91-97.
[24] Sawada, T., et al. (2020) New-born Screening for Fabry Disease in the Western Region of Japan. Molecular Genetics and Metabolism Reports, 22, Ar-ticle ID: 100562. [Google Scholar] [CrossRef] [PubMed]
[25] Bernardes, T.P., Foresto, R.D. and Kirsztajn, G.M. (2020) Fabry Disease: Genetics, Pathology, and Treatment. Revista da Associacao Medica Brasileira (1992), 66, s10-s16. [Google Scholar] [CrossRef] [PubMed]
[26] Simonetta, I., et al. (2020) Treatment of Anderson-Fabry Disease. Current Pharmaceutical Design, 26, 5089-5099. [Google Scholar] [CrossRef] [PubMed]
[27] Azevedo, O., et al. (2020) Fabry Disease Therapy: State-of-the-Art and Current Challenges. International Journal of Molecular Sciences, 22, 206. [Google Scholar] [CrossRef] [PubMed]
[28] Lenders, M. and Brand, E. (2021) Precision Medicine in Fabry Disease. Nephrology Dialysis Transplantation, 36, 14-23. [Google Scholar] [CrossRef] [PubMed]
[29] Simonetta, I., et al. (2020) Biomarkers in Anderson-Fabry Disease. International Journal of Molecular Sciences, 21, 8080. [Google Scholar] [CrossRef] [PubMed]
[30] Kant, S. and Atta, M.G. (2020) Therapeutic Advances in Fabry Disease: The Future Awaits. Biomedicine & Pharmacotherapy, 131, Article ID: 110779. [Google Scholar] [CrossRef] [PubMed]
[31] van der Veen, S.J., et al. (2020) Developments in the Treatment of Fabry Disease. Journal of Inherited Metabolic Disease, 43, 908-921. [Google Scholar] [CrossRef] [PubMed]
[32] Ezgu, F., et al. (2022) Expert Opinion on the Recognition, Diagnosis and Management of Children and Adults with Fabry Disease: A Multidisciplinary Turkey Perspective. Orphanet Journal of Rare Diseases, 17, 90. [Google Scholar] [CrossRef] [PubMed]
[33] Schiffmann, R., et al. (2017) Screening, Diagnosis, and Man-agement of Patients with Fabry Disease: Conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference. Kidney International, 91, 284-293. [Google Scholar] [CrossRef] [PubMed]
[34] Wanner, C., et al. (2018) European Expert Consensus Statement on Therapeutic Goals in Fabry Disease. Molecular Genetics and Metabolism, 124, 189-203. [Google Scholar] [CrossRef] [PubMed]
[35] van Breemen, M.J., et al. (2011) Reduction of Elevated Plasma Globotriaosylsphingosine in Patients with Classic Fabry Disease Following Enzyme Replacement Therapy. Biochimica et Biophysica Acta, 1812, 70-76. [Google Scholar] [CrossRef] [PubMed]
[36] Hopkin, R.J., et al. (2016) The Management and Treatment of Children with Fabry Disease: A United States-Based Perspective. Molecular Genetics and Metabolism, 117, 104-113. [Google Scholar] [CrossRef] [PubMed]
[37] Ouyang, Y., et al. (2018) Clinical Significance of Plasma Glo-botriaosylsphingosine Levels in Chinese Patients with Fabry Disease. Experimental and Therapeutic Medicine, 15, 3733-3742. [Google Scholar] [CrossRef] [PubMed]

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