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以肝衰竭为主要表现的红细胞生成性原卟啉病1例报告

曹丽丽 董漪 储芳 王丽旻 张敏

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Citation:

以肝衰竭为主要表现的红细胞生成性原卟啉病1例报告

DOI: 10.3969/j.issn.1001-5256.2018.09.029
详细信息
  • 中图分类号: R575.3;R589.8

Erythropoietic protoporphyria with liver failure as the main manifestation: A case report

  • 摘要: <正>卟啉病是一组由于血红素生物合成过程中所需酶的缺陷所致的代谢性及遗传性疾病。根据不同的酶异常分为不同类型。红细胞生成性原卟啉病(erythropoietic protoporphria,EPP)属于其中的一种,它是因亚铁螯合酶(ferrochelatase,FECH)活

     

  • [1]LECHA M, PUY H, DEYBACH JC.Erythropoietic protoporphyria[J].Orphanet J Rare Dis, 2009, 4 (1) :19.
    [2]LI XQ, SHI J, LAI YM, et al.Erythropoietic protoporphyria with jaundice as the main manifestation:A clinical, pathological, and genetic analysis of 4 cases[J].J Clin Hepatol, 2017, 33 (7) :1332-1335. (in Chinese) 李晓青, 师杰, 赖雅敏, 等.4例以黄疸为主要表现的红细胞生成性原卟啉病临床、病理及遗传学分析[J].临床肝胆病杂志, 2017, 33 (7) :1332-1335.
    [3]KHALIL MJ, FARAHMAD F, HIRBOD-MOBARAKEH A, et al.Erythropoietic protoporphyria and early onset of cholestasis[J].Turk J Pediatr, 2012, 54 (6) :645-650.
    [4]FRANK J, NELSON J, WANG X, et al.Erythropoietic protoporphyria:Identification of novel mutation in the ferrochelatase gene and comparison of biochemical markers versus molecular analysis as diagnostic strategies[J].J Investig Med, 1999, 47 (6) :278-284.
    [5]YAO Q, SU X, ALTMAN RD.Is remitting seronegative symmetrical synovitis with pitting edema (RS3PE) a subset of Rheumatoid Arthritis?[J].Semin Arthritis Rheum, 2010, 40 (1) :89-94.
    [6]RUSSELL EB.Remitting seronegative symmetrical synovitis with pitting edema syndrome:Follow up forneoplasia[J].J Rheumatol, 2005, 32 (9) :1760-1761.
    [7]BALWANI M, DOHENY D, BISHOP DF, et al.Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and X-linked protoporphyria in north American patients reveal novel mutations and a high prevalence of x-linked protoporphyria[J].Mol Med, 2013, 19:26-35.
    [8]GOUYA L, MARTIN-SCHMITT C, ROBREAU AM, et, al.Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria[J].Am J Hum Genet, 2006, 78 (1) :2-14.
    [9]NAKAHASHI Y, FUJITA H, TAKETANI S, et al.The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria[J].Proc Natl Acad Sci U S A, 1992, 89 (1) :281-285.
    [10]MA JH, XIAO SX, FENG YG, et al.Mutation analysis of ferrochelatase gene in a pedigree with erythropoietic protoporphyria[J].Chin J Dermatol, 2010, 43 (2) :85-87. (in Chinese) 马俊红, 肖生祥, 冯义国, 等.红细胞生成性原卟啉病一家系亚铁螯合酶基因突变检测[J].中华皮肤科杂志, 2010, 43 (2) :85-87.
    [11]RIDLEY A.The neuropathy of acute intermittent porphyria[J].Q JMed, 1969, 38 (151) :307-333.
    [12]GOLDBERG A.Acute inermittent porphyria:A study of 50 cases[J].Q J Med, 1959, 28 (110) :183-209.
    [13]REISENAUERAK AK, SOON SL, LEE KK, ea al.Erythropoietic protoporphyria presenting with liver failure in adulthood[J].Dermatology, 2005, 210 (1) :72-73.
    [14]MICHAELS BD, DEL ROSSO JQ, MOBINI N, et al.Erythropoietic protoporphyria:A case report and literature review[J].J Clin Aesthet Dermatol, 2010, 3 (7) :44-48.
    [15]MCCARTY DJ, O'DUFFY JD, PEARSON L, et al.Remitting seronegative symmetrical synovitis with pitting edema, RS3PE syndrome[J].JAMA, 1985, 254 (19) :2763-2767.
    [16]KIM ES, GARNOCK-JONES KP.Afamelanotide:A review in erythropoietic protoporphyria[J].Am J Clin Dermatol, 2016, 17 (2) :179-185.
    [17]HONDA Y, KAWAKAMI Y, KAN H, et al.A second attack of cholestasis associated with erythropoietic protoporphyria was successfully treated by plasma exchange and blood transfusion[J].Clin J Gastroenterol, 2014, 7 (4) :333-337.
    [18]LOCK G, HOLSTEGE A, MUELLER AR, et al.Liver failure in erythropoietc protoporphyria associated with choledocholithiasis and severe post-transplantation polyneuropathy[J].Liver, 1996, 16 (3) :211-217.
    [19]CHEUNG CY, TAM S, LAM CW, et al.Allogenetic haematopoietic stem cell transplantation for erythropoietic protoporpyhria:A cautionary note[J].Blood cells Mol Dis, 2015, 54 (3) :266-267.
    [20]MINGOZZI F, HIGH KA.Immune responses to AAV vectors, overcoming barriers to successful gene therapy[J].Blood, 2013, 122 (1) :23-36.
    [21]SIEGESMUND M, van TUYLL van SEROOSKERKEN AM, POBLETE GUTIERREZ P, et al.The acute hepatic porphyrias:Current status and future challenges[J].Best Pract Res Clin Gastroenterol, 2010, 24 (5) :593-605.
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  • 出版日期:  2018-09-20
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