What is erythropoietic porphyria?

summary

Due to the defect of uroporphyrin III cosynthase, hydroxymethylcholane under the action of uroporphyrin III synthetase can not be converted into uroporphyrin III normally, and hydroxymethylcholane can spontaneously form excessive uroporphyrin I. Uroporphyrin I can't turn into heme, but oxidizes to uroporphyrin I. uroporphyrin I decarboxylates to form faecal porphyrin I under the action of uroporphyrin decarboxylase, and finally oxidizes to faecal porphyrin I. What is erythropoietic porphyria? Let's talk about it

What is erythropoietic porphyria?

Skin blisters are usually severe and present shortly after birth, often with anemia and hematuria. Some have mild symptoms in adulthood. The severity of the disease depends on the degree of mutation and enzyme deficiency in each patient. In severe cases, there is Hydrosis in the uterus, and obvious photoallergy is shown when phototherapy is used for neonatal jaundice. Because the excessive porphyrin makes the amniotic fluid in the uterus red, it is helpful for the diagnosis.

The appearance of lesions is similar to that of PCT, but usually more severe. Blisters in the sun exposed skin often cause scarring, infection and deformation of the face and fingers. Pigmentation and hirsutism are common. Corneal scarring can be severe. Porphyrins are deposited in teeth (producing reddish brown called red teeth) and bone. osteoporosis. Hemolytic anemia and splenomegaly almost exist. Splenomegaly is associated with anemia, leukopenia and thrombocytopenia (hypersplenism). Anemia stimulates bone marrow to produce more porphyrin filled red blood cells, thus increasing porphyrin production and leading to permanent hemolysis and photoallergy.

Drink blood. For most patients with porphyria, blood transfusion and heme can effectively relieve symptoms, and is still the mainstream treatment. Heme is very tenacious and can still be absorbed by the small intestine through the digestive tract. This means that, at least in theory, ancient porphyria patients could feel more comfortable by smoking or drinking blood.

matters needing attention

Patients should avoid exposure to sunlight (because ordinary cloth can't prevent the light with wavelength of about 400nm). They can wear special materials such as clothes, gloves and wide brimmed hats made of zinc oxide or titanium oxide materials. It may be effective to use some cosmetics containing quinones (such as maniposin) and dihydroxyacetone to make the skin tan.