Department of Infectious Diseases, Southwest Hospital, Third Military Medical University (Army Medical University), Chongqing 400038, China.
World J Gastroenterol. 2019 Feb 21;25(7):880-887. doi: 10.3748/wjg.v25.i7.880.
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.
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.
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.
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。
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。
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）。
