What are Erythropoietic Urophorphyria?
Erythropoietic urophorphyria (congenital porphyria, Gunther porphyria) is a rare, serious disease with skin lesions, hemolytic anemia, intracellular destruction of red blood cells, and uroporphyrin isomer excretion in the urine.
Causes of Erythropoietic Uroporphyria
Erythropoietic urophorphyria is a hereditary disease that is inherited autosomally in a recessive manner. The disease is observed in one generation, sometimes in several children. Parents – heterozygous carriers of the pathological gene do not have clinical manifestations of the disease, although sometimes a slight increase in the content of porphyrins is found in the urine.
Pathogenesis during erythropoietic uroorphyria
Excessive deposition of uroporphyrin in red blood cells can lead to a shortened life expectancy, increased hemolysis. From erythrocytes, a lot of uroporphyrinogen is released, which is oxidized to uroporphyrin and deposited in the skin, causing photosensitivity.
Symptoms of Erythropoietic Uroporphyria
The disease can occur in newborns. They have red urine, an increased sensitivity of the skin to solar radiation. A few weeks or months after birth, blisters with a diameter of 1-10 mm appear in various parts of the baby’s body; poorly healing ulcers occur at the site of the blisters, a secondary infection joins. In the future, with antibiotic treatment, ulcers are scarred, leaving areas of sclerotic skin, atrophic scars. Scars disfigure the skin, can cause contracture of various joints, blindness. Often a child lacks hair and nails. Scleroderma-like changes appear on the face. The teeth darken noticeably, glow with a reddish light in ultraviolet rays.
Palpation of the abdomen in almost all patients revealed an increase in the spleen. The disease is characterized by signs of hemolytic anemia, accompanied by intracellular destruction of red blood cells. At the same time, the level of indirect bilirubin rises, the content of reticulocytes increases, irritation of the red sprout of the bone marrow without increasing the content of free hemoglobin in plasma and hemosiderin in the urine is noted. The osmotic resistance of red blood cells is often reduced. Reduced life span of red blood cells. In some cases, thrombocytopenia was observed.
Erythropoietic urophorphyria is a serious illness leading to disability and often death in early childhood. Before using antibiotics, patients did not live up to 1 year and usually died of sepsis, associated with suppuration of ulcers and the spread of microbial infection. Currently, the forecast remains serious.
Diagnosis of Erythropoietic Uroporphyria
A biochemical study in the urine reveals a large amount of the isomer of uroporphyrin and less of the isomer of coproporphyrin. In erythrocytes of patients, a lot of uroporphyrin is determined. Red blood cells glow red in ultraviolet rays.
Treatment of Erythropoietic Uroporphyria
To date, there are no methods for changing the impaired synthesis of porphyrins. A definite effect in erythropoietic uroporphyria is the removal of the spleen. This operation leads to an increase in the life span of red blood cells, thus increasing the level of hemoglobin. In addition, less uroporphyrin is released from destroyed erythrocytes per unit time, which leads to a decrease in photosensitivity.