Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect
Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase. Liver involvement is observed in 5%–20% of patients harbouring loss-of-function FECH variants and it...
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Frontiers Media S.A.
2025-02-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2025.1504181/full |
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| author | Patryk Lipiński Agnieszka Lipniacka Maja Klaudel-Dreszler Lidia Ziółkowska Grażyna Kostrzewa Edyta Odnoczko Robert Wasilewski Rafał Płoski Anna Tylki-Szymańska |
| author_facet | Patryk Lipiński Agnieszka Lipniacka Maja Klaudel-Dreszler Lidia Ziółkowska Grażyna Kostrzewa Edyta Odnoczko Robert Wasilewski Rafał Płoski Anna Tylki-Szymańska |
| author_sort | Patryk Lipiński |
| collection | DOAJ |
| description | Erythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase. Liver involvement is observed in 5%–20% of patients harbouring loss-of-function FECH variants and its manifestations are heterogeneous, ranging from mildly elevated liver transaminases, cholelithiasis to severe acute cholestatic hepatitis/liver failure. This paper presents the case of a Polish infant with EPP associated with two novel missense FECH variants accompanied by other congenital anomalies, namely atrial septal defect and renal hypodysplasia. Progressive cholestatic liver disease (with subsequent congestive heart failure) was observed in the course of EPP. Erytropoietic protoporphyria should be considered in patients with hepatosplenomegaly and cholestasis accompanied by skin damage. The natural history of liver disease in the course of EPP could be determined by other factors, like the co-existence of congenital anomalies. |
| format | Article |
| id | doaj-art-59a1ca308928403db592de242d0e4dcc |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-59a1ca308928403db592de242d0e4dcc2025-02-11T12:50:13ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-02-011310.3389/fped.2025.15041811504181Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defectPatryk Lipiński0Agnieszka Lipniacka1Maja Klaudel-Dreszler2Lidia Ziółkowska3Grażyna Kostrzewa4Edyta Odnoczko5Robert Wasilewski6Rafał Płoski7Anna Tylki-Szymańska8Institute of Clinical Sciences, Maria-Skłodowska-Curie Medical Academy, Warsaw, PolandDepartment of Haemostasis and Metabolic Diseases, Institute of Haematology and Transfusion Medicine, Warsaw, PolandDepartment of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, The Children’s Memorial Health Institute, Warsaw, PolandDepartment of Cardiology, The Children’s Memorial Health Institute, Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, PolandDepartment of Haemostasis and Metabolic Diseases, Institute of Haematology and Transfusion Medicine, Warsaw, PolandDepartment of Disorders of Hemostasis and Internal Medicine, Institute of Haematology and Transfusion Medicine, Warsaw, PolandDepartment of Medical Genetics, Medical University of Warsaw, Warsaw, PolandDepartment of Pediatrics, Nutrition and Metabolic Diseases, The Children’s Memorial Health Institute, Warsaw, PolandErythropoietic protoporphyria (EPP) is an autosomal recessive disorder of the heme biosynthesis pathway caused by pathogenic variants in FECH gene resulting in a decreased activity of ferrochelatase. Liver involvement is observed in 5%–20% of patients harbouring loss-of-function FECH variants and its manifestations are heterogeneous, ranging from mildly elevated liver transaminases, cholelithiasis to severe acute cholestatic hepatitis/liver failure. This paper presents the case of a Polish infant with EPP associated with two novel missense FECH variants accompanied by other congenital anomalies, namely atrial septal defect and renal hypodysplasia. Progressive cholestatic liver disease (with subsequent congestive heart failure) was observed in the course of EPP. Erytropoietic protoporphyria should be considered in patients with hepatosplenomegaly and cholestasis accompanied by skin damage. The natural history of liver disease in the course of EPP could be determined by other factors, like the co-existence of congenital anomalies.https://www.frontiersin.org/articles/10.3389/fped.2025.1504181/fullerythropoietic protoporphyriacholestasisatrial septal defectrenal hypodysplasiachildren |
| spellingShingle | Patryk Lipiński Agnieszka Lipniacka Maja Klaudel-Dreszler Lidia Ziółkowska Grażyna Kostrzewa Edyta Odnoczko Robert Wasilewski Rafał Płoski Anna Tylki-Szymańska Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect Frontiers in Pediatrics erythropoietic protoporphyria cholestasis atrial septal defect renal hypodysplasia children |
| title | Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| title_full | Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| title_fullStr | Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| title_full_unstemmed | Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| title_short | Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| title_sort | case report cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect |
| topic | erythropoietic protoporphyria cholestasis atrial septal defect renal hypodysplasia children |
| url | https://www.frontiersin.org/articles/10.3389/fped.2025.1504181/full |
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