Erythropoietic protoporphyria and early onset of cholestasis
Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually a...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2012-12-01
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| Series: | The Turkish Journal of Pediatrics |
| Online Access: | https://turkjpediatr.org/article/view/1702 |
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| author | Mani Jeh Khalili Fatemeh Farahmand Armin Hirbod-Mobarakeh Azizollah Yousefi Soheila Sotoudeh Maryam Monajemzadeh Anahita Razaghian Nima Rezaei |
| author_facet | Mani Jeh Khalili Fatemeh Farahmand Armin Hirbod-Mobarakeh Azizollah Yousefi Soheila Sotoudeh Maryam Monajemzadeh Anahita Razaghian Nima Rezaei |
| author_sort | Mani Jeh Khalili |
| collection | DOAJ |
| description |
Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually after at least a decade of photosensitivity. Herein, we describe a 1.5-year-old child with EPP with severe photosensitivity, heart abnormalities and early onset of cholestatic liver disease, whose clinical condition improved gradually after using ursodeoxycholic acid. It seems that liver disease in EPP patients is not limited to the late phases of the disease and could develop in childhood and early phases of EPP. Awareness among physicians has a major role in the early detection and prevention of mistreatment of EPP in case of its combination with other abnormalities.
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| format | Article |
| id | doaj-art-58372a5457d842c3b5600b9b51ef4b35 |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2012-12-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-58372a5457d842c3b5600b9b51ef4b352025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212012-12-01546Erythropoietic protoporphyria and early onset of cholestasisMani Jeh Khalili0Fatemeh FarahmandArmin Hirbod-MobarakehAzizollah YousefiSoheila SotoudehMaryam MonajemzadehAnahita RazaghianNima RezaeiDepartment of Gastroenterology, Research Center for Children and Adolescents Health, Zahedan University of Medical Sciences, Zahedan, Iran; Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. rezaei_nima@tums.ac.ir. Erythropoietic protoporphyria (EPP) is an inherited defect of mitochondrial ferrochelatase. This defect results in accumulation of protoporphyrin in erythrocytes, plasma, liver, and skin, which causes severe photosensitivity. Liver disease can occur in 1-4% of the patients with EPP, usually after at least a decade of photosensitivity. Herein, we describe a 1.5-year-old child with EPP with severe photosensitivity, heart abnormalities and early onset of cholestatic liver disease, whose clinical condition improved gradually after using ursodeoxycholic acid. It seems that liver disease in EPP patients is not limited to the late phases of the disease and could develop in childhood and early phases of EPP. Awareness among physicians has a major role in the early detection and prevention of mistreatment of EPP in case of its combination with other abnormalities. https://turkjpediatr.org/article/view/1702 |
| spellingShingle | Mani Jeh Khalili Fatemeh Farahmand Armin Hirbod-Mobarakeh Azizollah Yousefi Soheila Sotoudeh Maryam Monajemzadeh Anahita Razaghian Nima Rezaei Erythropoietic protoporphyria and early onset of cholestasis The Turkish Journal of Pediatrics |
| title | Erythropoietic protoporphyria and early onset of cholestasis |
| title_full | Erythropoietic protoporphyria and early onset of cholestasis |
| title_fullStr | Erythropoietic protoporphyria and early onset of cholestasis |
| title_full_unstemmed | Erythropoietic protoporphyria and early onset of cholestasis |
| title_short | Erythropoietic protoporphyria and early onset of cholestasis |
| title_sort | erythropoietic protoporphyria and early onset of cholestasis |
| url | https://turkjpediatr.org/article/view/1702 |
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