中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 40 Issue 3
Mar.  2024
Turn off MathJax
Article Contents

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

DOI: 10.12449/JCH240323
Research funding:

Dongguan City’s Social Development Science and Technology (20221800902842)

More Information
  • Corresponding author: LIU Sichun, liusichun66@sina.com (ORCID: 0009-0006-5143-1814)
  • Received Date: 2023-06-15
  • Accepted Date: 2023-07-27
  • Published Date: 2024-03-20
  • Erythropoietic protoporphyria (EPP) is a rare inherited metabolic disease that often involves skin, blood, and nervous systems, and EPP with the main manifestations of severe liver damage and acute abdominal pain is extremely rare. By reviewing the clinical data and genetic testing results of a patient with EPP, this article discusses the clinical features and pathogenic genes of this disease, in order to improve the understanding of the disease among hepatologists and achieve early diagnosis and treatment.

     

  • loading
  • [1]
    Red blood cell diseases(anemia) Group, Hematology Society, Chinese Medical Association. Expert consensus on diagnosis and treatment of porphyria in China(2020)[J]. Natl Med J China, 2020, 100( 14): 1051- 1056. DOI: 10.3760/cma.j.cn112137-20200219-00349.

    中华医学会血液学分会红细胞疾病(贫血)学组. 中国卟啉病诊治专家共识(2020年)[J]. 中华医学杂志, 2020, 100( 14): 1051- 1056. DOI: 10.3760/cma.j.cn112137-20200219-00349.
    [2]
    BALWANI M. Erythropoietic protoporphyria and X-linked protoporphyria: Pathophysiology, genetics, clinical manifestations, and management[J]. Mol Genet Metab, 2019, 128( 3): 298- 303. DOI: 10.1016/j.ymgme.2019.01.020.
    [3]
    PHILLIPS JD. Heme biosynthesis and the porphyrias[J]. Mol Genet Metab, 2019, 128( 3): 164- 177. DOI: 10.1016/j.ymgme.2019.04.008.
    [4]
    YASUDA M, CHEN B, DESNICK RJ. Recent advances on porphyria genetics: Inheritance, penetrance& molecular heterogeneity, including new modifying/causative genes[J]. Mol Genet Metab, 2019, 128( 3): 320- 331. DOI: 10.1016/j.ymgme.2018.11.012.
    [5]
    MA JH, WANG X, XIAO SX. Relationship between the genotype and phenotype of erythropoietic protoporphyria[J]. Chin J Dermatol, 2013, 46( 7): 507- 508. DOI: 10.3760/cma.j.issn.0412-4030.2013.07.017.

    马俊红, 王昕, 肖生祥. 红细胞生成性原卟啉病基因表达与表现型关系研究[J]. 中华皮肤科杂志, 2013, 46( 7): 507- 508. DOI: 10.3760/cma.j.issn.0412-4030.2013.07.017.
    [6]
    MIZAWA M, MAKINO T, NAKANO H, et al. Incomplete erythropoietic protoporphyria caused by a splice site modulator homozygous IVS3-48C polymorphism in the ferrochelatase gene[J]. Br J Dermatol, 2016, 174( 1): 172- 175. DOI: 10.1111/bjd.14078.
    [7]
    GOUYA L, PUY H, ROBREAU AM, et al. The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH[J]. Nat Genet, 2002, 30( 1): 27- 28. DOI: 10.1038/ng809.
    [8]
    NAKANO H, NAKANO A, TOYOMAKI Y, et al. Novel ferrochelatase mutations in Japanese patients with erythropoietic protoporphyria: high frequency of the splice site modulator IVS3-48C polymorphism in the Japanese population[J]. J Invest Dermatol, 2006, 126( 12): 2717- 2719. DOI: 10.1038/sj.jid.5700456.
    [9]
    GRANATA F, DUCA L, GRAZIADEI G, et al. Inflammatory involvement into phototoxic reaction in erythropoietic protoporphyria(EPP) patients[J]. Immunol Res. 2019, 67( 4-5): 382- 389. DOI: 10.1007/s12026-019-09097-5.
    [10]
    LECHA M, PUY H, DEYBACH JC. Erythropoietic protoporphyria[J]. Orphanet J Rare Dis, 2009, 4: 19. DOI: 10.1186/1750-1172-4-19.
    [11]
    ZHANG Y, GUO R, MIAO XX, et al. Research progress on porphyrin’s metabolism and chronic liver disease[J]. J World Latest Med Inf, 2019, 19( 99): 127- 128, 130. DOI: 10.19613/j.cnki.1671-3141.2019.99.061.

    张璎, 郭蕊, 苗向霞, 等. 卟啉代谢与慢性肝病相关研究进展[J]. 世界最新医学信息文摘, 2019, 19( 99): 127- 128, 130. DOI: 10.19613/j.cnki.1671-3141.2019.99.061.
    [12]
    SETH AK, BADMINTON MN, MIRZA D, et al. Liver transplantation for porphyria: who, when, and how?[J]. Liver Transpl, 2007, 13( 9): 1219- 1227. DOI: 10.1002/lt.21261.
    [13]
    LALA SM, NAIK H, BALWANI M. Diagnostic delay in erythropoietic protoporphyria[J]. J Pediatr, 2018, 202: 320- 323. DOI: 10.1016/j.jpeds.2018.06.001.
    [14]
    WENSINK D, WAGENMAKERS M, LANGENDONK JG. Afamelanotide for prevention of phototoxicity in erythropoietic protoporphyria[J]. Expert Rev Clin Pharmacol, 2021, 14( 2): 151- 160. DOI: 10.1080/17512433.2021.1879638.
    [15]
    BALWANI M, DESNICK RJ. The porphyrias: advances in diagnosis and treatment[J]. Blood, 2012, 120( 23): 4496- 4504. DOI: 10.1182/blood-2012-05-423186.
    [16]
    HEERFORDT IM, LERCHE CM, WULF HC. Cimetidine for erythropoietic protoporphyria[J]. Photodiagnosis Photodyn Ther, 2022, 38: 102793. DOI: 10.1016/j.pdpdt.2022.102793.
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索

    Figures(2)  / Tables(1)

    Article Metrics

    Article views (277) PDF downloads(71) Cited by()
    Proportional views
    Related

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return