Fabry病肾病合并膜性肾病的临床病理分析
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摘要
<正>Fabry病是一种罕见的X染色体连锁的遗传性疾病,是由于编码α-半乳糖甘酶(GLA)的基因突变,从而导致α-半乳糖甘酶活性缺乏或缺失,其代谢产物三聚已糖神经酰胺(Gb3)在肾脏等多个组织及器官中持续性堆积,造成相应器官的功能障碍。累及肾脏者称Fabry病肾病,其主要临床表现为蛋白尿及肾功能损害,由于缺乏特异性临床表现,因此,需要肾活检才能明确诊断。尽管Fabry病属于少见病,但近年来随着肾活检开展的日益普遍,Fabry病肾病时有报道
引文
[1] Cai ZY,Zhang YK,Wang SX,et al.Diffuse thin glomerular basement membrane in association with Fabry disease in a Chinese female patient[J].Nephrol Dial Transplant,2011,26(11):3813-3816.
[2] Chao CT,Lin WC,Kao TW.Fabry disease and immunoglobulin A nephropathy[J].Nephrology(Carlton),2012,17(8):782-783.
[3] Nandagudi A,Jury EC,Alonzi D,et al.Heart failure in a woman with SLE,anti-phospholipid syndrome and Fabry's disease[J].Lupus,2013,22(10):1070-1076.
[4] Singh HK,Nickeleit V,Kriegsmann J,et al.Coexistence of Fabry’s disease and necrotizing and crescentic glomerulonephritis[J].Clin Nephrol,2001,55(1):73-79.
[5] Yin G,Wu Y,Zeng CH,et al.Coexistence of Fabry disease and IgA nephropathy:a report of two cases[J].Ir J Med Sci,2014,183(4):671-675.
[6] Abensur H,Reis MA.Renal involvement in Fabry disease[J].J Bras Nefrol,2016,38(2):245-254.
[7] Germain DP.Fabry disease[J].Orphanet J Rare Dis,2010,5:30.
[8] 张明辉,刘艳辉,史伟,等.Fabry病肾病临床病理分析[J].临床与实验病理学杂志,2010,26(2):207-210.
[9] Eng CM,Fletcher J,Wilcox WR,et al.Fabry disease:baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry[J].J Inherit Metab Dis,2007,30(2):184-192.
[10] Bracamonte ER,Kowalewska J,Starr J,et al.Iatrogenic phospholipidosis mimicking Fabry disease[J].Am J Kidney Dis,2006,48(5):844-850.
[11] Sundin DP,Sandoval R,Molitoris BA.Gentamicin inhibits renal protein and phospholipid metabolism in rats:implications involving intracellular trafficking[J].J Am Soc Nephrol,2001,12(1):114-123.
[12] Ponticelli C.Membranous nephropathy[J].J Nephrol,2007,20(3):268-287.
[13] 章友康,王素霞.继发性膜性肾病的病因和诊断[J].肾脏病与透析肾移植杂志,2008,17(03):254-255.
[14] 章友康,李英.膜性肾病的诊断与治疗[J].中华肾病研究电子杂志,2013,2(1):5-10.
[15] Martinez P,Aggio M,Rozenfeld P.High incidence of autoantibodies in Fabry disease patients[J].J Inherit Metab Dis,2007,30(3):365-369.
[16] Liu Y,Xie H,Lin H,et al.Coexistence of Fabry Disease and Membranous Nephropathy[J].Iran J Kidney Dis,2016,10(1):48-50.
[17] Sanchez-Nino MD,Sanz AB,Carrasco S,et al.Globotriaosylsphingosine actions on human glomerular podocytes:implications for Fabry nephropathy[J].Nephrol Dial Transplant,2011,26(6):1797-1802.
[18] Takahashi N,Yokoi S,Kasuno K,et al.A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes[J].Clin Nephrol,2015,83(5):301-308.
[19] 邹万忠.肾活检病理学(第4版)[M].北京:北京大学医学出版社,2017:96-100.
[20] 马捷,张泰和,周晓军,等.小儿Alport综合征的临床病理分析[J].临床与实验病理学杂志,2001,17(6):455-458.
[21] 陈惠萍,吴波,黎磊石.Niemann-Pick 病的肾脏损害[J].肾脏病与透析肾移植杂志,1998,7(1):88-91.
[22] Schiffmann R.Neuropathy and Fabry disease:pathogenesis and enzyme replacement therapy[J].Acta Neurol Belg,2006,106(2):61-65.
[2] Chao CT,Lin WC,Kao TW.Fabry disease and immunoglobulin A nephropathy[J].Nephrology(Carlton),2012,17(8):782-783.
[3] Nandagudi A,Jury EC,Alonzi D,et al.Heart failure in a woman with SLE,anti-phospholipid syndrome and Fabry's disease[J].Lupus,2013,22(10):1070-1076.
[4] Singh HK,Nickeleit V,Kriegsmann J,et al.Coexistence of Fabry’s disease and necrotizing and crescentic glomerulonephritis[J].Clin Nephrol,2001,55(1):73-79.
[5] Yin G,Wu Y,Zeng CH,et al.Coexistence of Fabry disease and IgA nephropathy:a report of two cases[J].Ir J Med Sci,2014,183(4):671-675.
[6] Abensur H,Reis MA.Renal involvement in Fabry disease[J].J Bras Nefrol,2016,38(2):245-254.
[7] Germain DP.Fabry disease[J].Orphanet J Rare Dis,2010,5:30.
[8] 张明辉,刘艳辉,史伟,等.Fabry病肾病临床病理分析[J].临床与实验病理学杂志,2010,26(2):207-210.
[9] Eng CM,Fletcher J,Wilcox WR,et al.Fabry disease:baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry[J].J Inherit Metab Dis,2007,30(2):184-192.
[10] Bracamonte ER,Kowalewska J,Starr J,et al.Iatrogenic phospholipidosis mimicking Fabry disease[J].Am J Kidney Dis,2006,48(5):844-850.
[11] Sundin DP,Sandoval R,Molitoris BA.Gentamicin inhibits renal protein and phospholipid metabolism in rats:implications involving intracellular trafficking[J].J Am Soc Nephrol,2001,12(1):114-123.
[12] Ponticelli C.Membranous nephropathy[J].J Nephrol,2007,20(3):268-287.
[13] 章友康,王素霞.继发性膜性肾病的病因和诊断[J].肾脏病与透析肾移植杂志,2008,17(03):254-255.
[14] 章友康,李英.膜性肾病的诊断与治疗[J].中华肾病研究电子杂志,2013,2(1):5-10.
[15] Martinez P,Aggio M,Rozenfeld P.High incidence of autoantibodies in Fabry disease patients[J].J Inherit Metab Dis,2007,30(3):365-369.
[16] Liu Y,Xie H,Lin H,et al.Coexistence of Fabry Disease and Membranous Nephropathy[J].Iran J Kidney Dis,2016,10(1):48-50.
[17] Sanchez-Nino MD,Sanz AB,Carrasco S,et al.Globotriaosylsphingosine actions on human glomerular podocytes:implications for Fabry nephropathy[J].Nephrol Dial Transplant,2011,26(6):1797-1802.
[18] Takahashi N,Yokoi S,Kasuno K,et al.A heterozygous female with Fabry disease due to a novel alpha-galactosidase A mutation exhibits a unique synaptopodin distribution in vacuolated podocytes[J].Clin Nephrol,2015,83(5):301-308.
[19] 邹万忠.肾活检病理学(第4版)[M].北京:北京大学医学出版社,2017:96-100.
[20] 马捷,张泰和,周晓军,等.小儿Alport综合征的临床病理分析[J].临床与实验病理学杂志,2001,17(6):455-458.
[21] 陈惠萍,吴波,黎磊石.Niemann-Pick 病的肾脏损害[J].肾脏病与透析肾移植杂志,1998,7(1):88-91.
[22] Schiffmann R.Neuropathy and Fabry disease:pathogenesis and enzyme replacement therapy[J].Acta Neurol Belg,2006,106(2):61-65.