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

World Journal of Gastroenterology : WJG
Hui-Min LiuXiao-Hong Wang

Abstract

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. 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 FECH gene in the pedigree of this case.

References

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Citations

Aug 23, 2019·World Journal of Gastroenterology : WJG·Debby WensinkJanneke G Langendonk
Dec 23, 2019·Rheumatology International·Enrique Esteve-ValverdeJaume Alijotas-Reig
Mar 20, 2021·Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology·Carla Isabelly Rodrigues-FernandesFelipe Paiva Fonseca

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Methods Mentioned

BETA
biopsy
light microscopy

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