Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect

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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Main Authors: Patryk Lipiński, Agnieszka Lipniacka, Maja Klaudel-Dreszler, Lidia Ziółkowska, Grażyna Kostrzewa, Edyta Odnoczko, Robert Wasilewski, Rafał Płoski, Anna Tylki-Szymańska
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-02-01
Series:Frontiers in Pediatrics
Subjects:
erythropoietic protoporphyria
cholestasis
atrial septal defect
renal hypodysplasia
children
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1504181/full
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