erythropoietic porphyria การใช้

• Erythropoietic porphyria is a genetic disease resulting in the deposition of porphyrins throughout the body.
• A deficiency is associated with Gunther's disease, also known as congenital erythropoietic porphyria ( CEP ).
• The pain, burning, swelling, and itching that occur in erythropoietic porphyrias generally require avoidance of bright sunlight.
• The rarest is congenital erythropoietic porphyria ( C . E . P ), otherwise known as Gunther's disease.
• The U . S . Food and Drug Administration have recognized afamelanotide as an orphan drug for the treatment of EPP and congenital erythropoietic porphyria.
• Congenital erythropoietic porphyria ( Gunther disease ) is a rare congenital form of porphyria, and may be associated with red or brown discolored teeth.
• Individuals who are homozygous for a specific mutation ( K404E ) or compound heterozygous with a null allele in " CPOX " have a more severe erythropoietic porphyria, harderoporphyria, characterized by neonatal jaundice, hyperbilirubinemia, hepatosplenomegaly and skin lesions upon exposure to ultraviolet light.