Congenital erythropoietic porphyria

Below you will find more information about Congenital erythropoietic porphyria from Medigest. If you believe that you are suffering from any of the symptoms of Congenital erythropoietic porphyria it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Congenital erythropoietic porphyria and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Congenital erythropoietic porphyria comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.

Definition

The congenital erythropoietic porphyria is categorized as an extremely rare case of autosomal recessive condition, and is more popularly known as Gunther's disease. This serious medical condition is a cause of various gene mutations in which the symptoms are known to development as early as the infancy stage. Congenital erythropoietic porphyries is often marked a cause of the patient's anemia among fetus even before birth.

Diagnosis

Among the most universal tests that are conducted to diagnose congenital erythropoietic porphyria include measuring the substances that are accumulated in the patient's body such as porphyrins and , porphyrin precursors. These are measured through blood plasma, feces and urine samplings.

Treatment

Blood transfusions as well as the removal of the patient's spleen can significantly reduce the production of porphyrin by the bone marrow. Another treatment approach is the used of the activated charcoal administered by mouth. In severe cases, bone marrow and stem cell transplantation is also an option, which have shown great results among patients.

Symptoms and Signs

Congenital erythropoietic porphyria primary symptom include extreme photosensitivity that often leads to blistering, increased hair growth and severe scarring. Skin may be seriously damaged due to bacteria as well as the risk of possible loss of fingers and facial features due to phototoxic damage.

Causes

This is a congenital condition that is brought about by the mutation or abnormalities in the genes.

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