What medicine does hereditary fecal porphyria take?

summary

The symptoms and signs of the disease are similar to those of acute porphyria, but it includes hemolysis and anemia. Symptoms can start in infants or children. Urine ala, fecal porphyrin III and erythrocyte zinc porphyrin increased significantly. Excessive ALA in tissues is metabolized to faecal porphyrin III. the excretion of faecal porphyrin is normal or at the upper limit of normal. Children with ALA dehydratase deficiency porphyria (ADP) have almost no activity of ALA dehydratase in erythrocytes or non erythrocytes, while their parents have 50% activity of ALA dehydratase. Let's share my experience with you.

What medicine does hereditary fecal porphyria take?

The treatment is not very effective. Therefore, it is important to avoid sunlight and wear protective clothing. Avoiding minor skin trauma and timely treatment of secondary bacterial infection can help prevent scar and deformation. Splenectomy can improve hemolytic anemia. Transfusion of red blood cells can correct anemia and reduce porphyrin production. In the future, bone marrow transplantation and gene therapy can be used. Heterozygotes in patients' families can be detected, Intrauterine diagnosis is possible. Therefore, preventing the transmission of genetic diseases is an alternative method

The severity of the disease depends on the mutation of each patient and the degree of enzyme deficiency. In severe cases, there is Hydrosis in the uterus, and it shows obvious photoallergy when the newborn jaundice is treated with phototherapy. Due to excessive porphyrin, the amniotic fluid in the uterus turns red, This is helpful in the diagnosis

The appearance of the 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. Porphyrin deposits on the teeth (producing reddish brown called red teeth) and bone. Osteoporosis

matters needing attention

In the diet must also control the salt intake, do not eat spicy food such as coffee, strong tea, you can eat more cereals such as cereals, oats or soybeans, you can drink more water or milk, but do not drink carbonated drinks.