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红细胞生成性原卟啉症伴严重肝损伤的诊断：一例报告。

Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

机构信息

Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400038, China.

出版信息

World J Gastroenterol. 2019 Feb 21;25(7):880-887. doi: 10.3748/wjg.v25.i7.880.

DOI:10.3748/wjg.v25.i7.880
PMID:30809087
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6385011/
Abstract

BACKGROUND: Porphyria is a rare disease with complex classification. Erythropoietic protoporphyria (EPP) is an autosomal recessively inherited disease, and most are caused by mutations in the gene. EPP combined with liver injury is even rarer. CASE SUMMARY: This paper reports a case of EPP which was admitted to the hospital with abnormal liver function and diagnosed by repeated questioning of medical history, screening of common causes of severe liver injury, and second generation sequencing of the whole exon genome. We also summarize the clinical characteristics of EPP with liver injury, and put forward some suggestions on EPP to provide a reference for the diagnosis of such rare disease. CONCLUSION: A new mutation locus (c.32_35dupCCCT) which may be related to the disease was found by detecting the gene in the pedigree of this case.

摘要

背景：卟啉病是一种分类复杂的罕见疾病。红细胞生成性原卟啉病（EPP）是一种常染色体隐性遗传性疾病，大多数由 基因突变引起。EPP 合并肝损伤更为罕见。

病例总结：本文报告了一例因肝功能异常住院的 EPP 患者，通过反复询问病史、筛查常见严重肝损伤病因、以及全外显子组二代测序进行诊断。我们还总结了伴有肝损伤的 EPP 的临床特征，并对 EPP 提出了一些建议，为这类罕见病的诊断提供参考。

结论：通过对该病例家系进行 基因检测，发现了一个可能与疾病相关的新突变位点（c.32_35dupCCCT）。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/974285d409c1/WJG-25-880-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/256afb062328/WJG-25-880-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/e7d6e878754f/WJG-25-880-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/8cb1651ea751/WJG-25-880-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/974285d409c1/WJG-25-880-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/256afb062328/WJG-25-880-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/e7d6e878754f/WJG-25-880-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/8cb1651ea751/WJG-25-880-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/65e2/6385011/974285d409c1/WJG-25-880-g004.jpg

相似文献

[1]
Diagnosis of erythropoietic protoporphyria with severe liver injury: A case report.

World J Gastroenterol. 2019-2-21

[2]
Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Mol Genet Metab. 2018-8-31

[3]
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer.

Clin Genet. 2017-8-2

[4]
Molecular epidemiology of erythropoietic protoporphyria in the U.K.

Br J Dermatol. 2010-1-22

[5]
Clinical, Biochemical, and Genetic Characterization of North American Patients With Erythropoietic Protoporphyria and X-linked Protoporphyria.

JAMA Dermatol. 2017-8-1

[6]
Modeling the ferrochelatase c.315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice.

Dis Model Mech. 2017-3-1

[7]
Late presentation of erythropoietic protoporphyria: case report and genetic analysis of family members.

Br J Dermatol. 2007-11

[8]
Liver involvement in patients with erythropoietic protoporphyria: retrospective analysis of clinicopathological features of 5 cases.

Ann Diagn Pathol. 2022-2

[9]
A Novel Mutation in the FECH Gene in a Czech Family with Erythropoietic Protoporphyria and a Population Study of IVS3-48C Variant Contributing to the Disease.

Folia Biol (Praha). 2015

[10]
Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria.

Am J Hum Genet. 1998-6

引用本文的文献

[1]
Erythropoietic protoporphyria linked to intricate double heterozygous mutations in theFECH gene: a case report and literature review.

Orphanet J Rare Dis. 2025-7-2

[2]
Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect.

Front Pediatr. 2025-2-11

[3]
Successful treatment of severe hepatic impairment in erythropoietic protoporphyria: A case report and review of literature.

World J Hepatol. 2024-6-27

[4]
Systemic lupus erythematosus and hydroxychloroquine-related acute intermittent porphyria.

Rheumatol Int. 2020-5

[5]
Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report.

World J Gastroenterol. 2019-8-14

本文引用的文献

[1]
Diagnostic Delay in Erythropoietic Protoporphyria.

J Pediatr. 2018-7-2

[2]
Osteoporosis in patients with erythropoietic protoporphyria.

Br J Dermatol. 2017-11-22

[3]
A second attack of cholestasis associated with erythropoietic protoporphyria was successfully treated by plasma exchange and blood transfusion.

Clin J Gastroenterol. 2014-8

[4]
Allogeneic haematopoietic stem cell transplantation for erythropoietic protoporphyria: a cautionary note.

Blood Cells Mol Dis. 2015-3

[5]
The diagnosis and management of erythropoietic protoporphyria.

Gastroenterol Hepatol (N Y). 2008-8

[6]
[Inheritance in erythropoietic protoporphyria].

Pathol Biol (Paris). 2010-10

[7]
Erythropoietic protoporphyria.

Orphanet J Rare Dis. 2009-9-10

[8]
The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH.

Nat Genet. 2002-1

[9]
The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

Proc Natl Acad Sci U S A. 1992-1-1

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