Porphyria is a disease manifested by the presence in the body of hemoglobin precursor molecules called porphyrins, found in the urine and feces. Porphyria can be primitive and congenital, caused by a deficiency in the metabolism of the synthesis of these pigments. There are several types of porphyria depending on the organ where the metabolic disorder occurs: hepatic porphyria in the liver, erythropoietic porphyria in the bones, or mixed porphyria. The most typical porphyria, called Günther disease, occurs during childhood and persists into adulthood. Porphyria can also be secondary, caused particularly by certain drugs or heavy metals poisoning.
Symptoms related to different types of porphyria are common, yet the presence of porphyrins in the urine and feces is manifested by port-colored urine. Other signs are inconsistent and vary depending on the type of porphyria:
- for Günther's disease and other types of porphyria, the presence, after exposure to sunlight, of bubbles on the skin causing scarring;
- violent abdominal pain;
- nausea and vomiting;
- a transient paralysis;
- psychiatric disorders in certain acute forms of porphyria.
The diagnosis of porphyria is made through a urine or blood test. This is to detect the presence of porphyrins. Red-colored urine will lead a patient to suspect porphyria.
In case of a severe crisis, analgesics associated with the intravenous intake of carbohydrates are recommended. Generally, the acute crisis disappears spontaneously within a few days. However, some symptoms may persist long after the end of the disease. Treatment of these is required.
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. Translated by Jeff