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 FECH gene. EPP combined wit...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 FECH 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_35 dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.展开更多
基金Supported by the Clinical Innovation Project from the Southwest Hospital,No.SWH2016ZDCX1007
文摘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 FECH 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_35 dupCCCT) which may be related to the disease was found by detecting the FECH gene in the pedigree of this case.
