Introduction:Erythropoietic protoporphyria(EPP)is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase(FECH).We herein report a case of EPP associated with 2 novel mutations in FECH.Case pre...Introduction:Erythropoietic protoporphyria(EPP)is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase(FECH).We herein report a case of EPP associated with 2 novel mutations in FECH.Case presentation:A 15-year-old boy experienced pain and pruritus after sunlight exposure.He had occasional claret-red urine,hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels,and an elevated free erythrocyte protoporphyrin level.He was treated with oralβ-carotene and cholestyramine and avoidance of sunlight as much as possible.Discussion:Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents.Pathogenicity analysis involving prediction using PolyPhen-2,SIFT,and Mutation Taster revealed that the 2 novel mutations were likely pathogenic.Although the patient’s parents were healthy,they each had one of these 2 mutations.This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic.The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies.Conclusion:Although the precise role of these mutations in EPP is not clear,the findings in the present case expand the genotypic spectrum of the disease.展开更多
文摘Introduction:Erythropoietic protoporphyria(EPP)is a rare photodermatosis mainly caused by deficiency of the enzyme ferrochelatase(FECH).We herein report a case of EPP associated with 2 novel mutations in FECH.Case presentation:A 15-year-old boy experienced pain and pruritus after sunlight exposure.He had occasional claret-red urine,hepatomegaly with increased alanine aminotransferase and aspartate aminotransferase levels,and an elevated free erythrocyte protoporphyrin level.He was treated with oralβ-carotene and cholestyramine and avoidance of sunlight as much as possible.Discussion:Genome sequencing revealed 2 novel FECH mutations that had been inherited from his healthy parents.Pathogenicity analysis involving prediction using PolyPhen-2,SIFT,and Mutation Taster revealed that the 2 novel mutations were likely pathogenic.Although the patient’s parents were healthy,they each had one of these 2 mutations.This finding is consistent with previous reports stating that individuals carrying low-expression alleles can be asymptomatic.The pathogenesis of the disease caused by these 2 mutations requires verification by larger and more detailed studies.Conclusion:Although the precise role of these mutations in EPP is not clear,the findings in the present case expand the genotypic spectrum of the disease.
