Hereditary coproporphyria

　　Hereditary coproporphyria is caused by a defect in coproporphyrinogen oxidase, with reduced enzyme activity. The specific causes and mechanisms are described as follows.

　　1. Causes of hereditary coproporphyria:This disease is caused by a defect in coproporphyrinogen oxidase, with most patients having enzyme activity reduced to about 50%, asymptomatic, and often below 2% in heterozygotes.

　　2. Pathogenesis of hereditary coproporphyria:Clinically, due to the reduction in enzyme activity, coproporphyrinogen cannot be oxidized to coproporphyrin, resulting in a decrease in hemoglobin production. Feedback inhibition of delta-aminolevulinic acid (ALA) synthase is reduced, leading to an increase in coproporphyrinogen, ALA, and porphyrinogen accumulation in the body.

　　During acute attacks, skin photosensitivity symptoms occur, mostly in the form of small and large blisters on exposed areas, with scars and hyperpigmentation or hypopigmentation, and excessive hair growth after skin lesions heal. There is currently no relevant information on complications of hereditary coproporphyria.

　　Hereditary coproporphyria manifests clinically as skin symptoms and acute neurological symptoms. During acute attacks, skin photosensitivity symptoms occur, mostly in the form of small and large blisters on exposed areas, with scars and hyperpigmentation or hypopigmentation, and excessive hair growth after skin lesions heal. Jaundice may appear in late adolescence, and acute attacks are often induced by medication.

　　Hereditary coproporphyria is caused by a defect in the coproporphyrin oxidase, leading to a decrease in enzyme activity. The prevention of hereditary coproporphyria should pay attention to avoiding the use of drugs that may induce an acute attack of the disease, such as barbiturate drugs, which are the best measure to prevent the occurrence of the disease.

　　The examination of hereditary coproporphyria includes laboratory tests and other auxiliary examinations. The specific examination methods are described as follows.

　　Firstly, Laboratory Examinations

　　1. The coproporphyrinogen III in the feces is significantly increased, and the coproporphyrinogen III in the urine is also increased. During acute attacks, δ-aminolevulinic acid (ALA) and porphyrin in the urine are also increased.

　　2. Fresh liver biopsy specimens may show red fluorescence after being irradiated with an ultraviolet lamp, and the content of red blood cells is normal.

　　Secondly, Auxiliary Examinations

　　According to clinical manifestations, symptoms, and signs, choose to perform electrocardiogram, ultrasound, biochemical tests, etc.

　　Patients with hereditary coproporphyria should eat high-sugar, high-protein, a variety of vitamins, soft foods that are easy to digest and non-irritating, such as egg, fish, milk, and other animal proteins; eat more fruits like apples, pears, and more vegetables. It is not advisable to consume hard, fried, and various刺激性 foods; it is not advisable to consume cold and raw foods; avoid alcohol consumption; food left over from the previous night and spoiled food, such as spoiled eggs, meat, fish, etc., should also be prohibited from consumption.

　　The treatment of hereditary coproporphyria includes eliminating the inducing factors, supportive treatment, and symptomatic treatment, etc. The specific treatment methods and prognosis are described as follows.

　　Firstly, the Treatment of Hereditary Coproporphyria

　　1. Eliminate the Inducing Factors Avoid alcohol consumption, treat infections, and avoid the use of barbiturate and sulfonamide drugs.

　　2. Supportive Treatment During the acute attack phase, 10% glucose is administered intravenously, and electrolyte imbalance is corrected, and large amounts of vitamin B, vitamin C, and vitamin E are taken orally.

　　3. Symptomatic Treatment Abdominal pain can be treated with morphine.

　　4. Hemoglobin Treatment Can quickly and effectively control moderate to severe acute attacks, with a treatment response within 48 hours, which can improve clinical symptoms and reduce the content of coproporphyrinogen III in urine.

　　Secondly, the Prognosis of Hereditary Coproporphyria

　　Good Prognosis.