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Updated: Aug 21, 2026

Mouse Fetal Liver Culture System to Dissect Target Gene Functions at the Early and Late Stages of Terminal Erythropoiesis
Published on: September 9, 2014
[Liver disease in erythropoietic protoporphyria]
1Medicinsk gastroenterologisk afdeling S, Odense Sygehus.
Abstract:
In erythropoietic protoporphyria, the genetically determined decreased activity of the enzyme ferrochelatase causes accumulation of the photoreactive molecule protoporphyrin in various tissues. Dermatological symptoms are dominant, but in some patients the excess protoporphyrin affects hepato-biliary structures, and a spectrum of changes, which ranges from ultrastructural bile canalicular damage to cirrhosis, can be observed. Most clinical reports have described severe cases with a rapid deterioration and a fatal outcome. We present a case with spontaneous recovery from hepatic decompensation on two occasions with three years interval. The first incidence might have been provoked by hormonal substitution therapy.
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