Porphyria cutanea tarda


The familial form of porphyria cutanea tarda — is inherited as an autosomal dominant trait with males and females affected in multiple generations. The enzyme UROD is reduced in all tissues.

The sporadic form of porphyria cutanea tarda — is more common. The enzyme UROD is only reduced in the liver. It appears sporadically in people with liver disease, as from alcoholism, and from exposure to agents such as estrogens.

Iron overload is frequently present in porphyria cutanea tarda and may be associated with varying degrees of damage of the liver.

A severe form of porphyria cutanea tarda, hepatoerythropoietic porphyria (HEP), has its onset in infancy with the accumulation of protoporphyrin in the red blood cells. The level of the enzyme UROD is very low in red cells.

The UROD gene has been mapped to 1p34. Mutations have been identified in the UROD gene, including DNA base substitutions and deletions. These mutations result in reduced activity of the enzyme. Some mutation result in porphyria cutanea tarda and others in the recessively inherited HEP. HEP is the homozygous form of familial porphyria cutanea tarda.

Treatment is directed first at reducing iron overload by regular phlebotomy (removal of blood). Then treatment with the drug hydroxychloroquine usually induces a sustained remission.

Read Also:

  • Port wine stain

    A mark on the skin that resembles port wine (porto) in its rich ruby red color. Due to an abnormal aggregation of capillaries, a port wine stain is a type of vascular malformation (vascular birthmark). A port wine stain on the face is a sign of the Sturge-Weber syndrome.

  • Portable generator safety

    Read and observe the instructions from the generator manufacturer for safe operation before hooking up the generator. Generators emit carbon monoxide. Always run the generator outdoors in a well-ventilated area. Do not run a generator in an enclosed area. Use the generator outdoors only (as indicated above) away from open windows, vents or doors. Deadly […]

  • Portal vein

    A large vein formed by the union of the splenic and superior mesenteric veins. The portal vein conveys venous blood to the liver for detoxification before the blood is returned to circulation via the hepatic veins.

  • Positional cloning

    Cloning a gene based simply on knowing its position in the genome without any idea of the function of that gene. Because this is the reverse of how things have been traditionally done, it has also been called reverse genetics.

  • Positive clinical trial

    Inconclusive clinical trial; Negative clinical trial; Non-inferior clinical trial.


Disclaimer: Porphyria cutanea tarda definition / meaning should not be considered complete, up to date, and is not intended to be used in place of a visit, consultation, or advice of a legal, medical, or any other professional. All content on this website is for informational purposes only.