hereditary coproporphyria
Introduction
Introduction to hereditary fecal porphyria Hereditary coproporphyria (hereditarycoproporphyria) is a type of porphyria disease, a rare autosomal dominant hereditary disease caused by defects in coproporphyrinogen oxidase. The main feature is the excretion of a large amount of coproporphyrin in the feces. III. basic knowledge The proportion of illness: 0.002% Susceptible people: no special people Mode of infection: non-infectious complication:
Cause
Cause of hereditary fecal porphyria
(1) Causes of the disease
The disease is a deficiency of coproporphyrinogen oxidase, and the activity of most patients is reduced to about 50%, asymptomatic, and the activity of homozygous enzyme is often below 2%.
(two) pathogenesis
Clinically, due to the decrease in enzyme activity, coproporphyrin can not be oxidized to coproporphyrin, so hemoglobin production is reduced, feedback inhibition of ALA synthase is reduced, and coproporphyrinogen, ALA, and bilirubin are increased to accumulate in the body.
Prevention
Hereditary fecal porphyria prevention
Avoiding the use of drugs that may induce acute exacerbations of the disease, such as barbiturates, is the best preventive measure.
Complication
Hereditary fecal porphyria complications Complication
Generally no complications.
Symptom
Hereditary fecal porphyria symptoms Common symptoms Photoallergic pigmentation and hypopigmentation hypertrophic scar herpes jaundice
It is clinically characterized by skin symptoms and acute neurological symptoms. It produces skin photosensitivity symptoms in acute attacks. It is mostly herpes simplex at the exposed site. After skin lesions are often scarred with hyperpigmentation or hypotension and hairy, jaundice occurs in the late adolescence. Acute attacks are often induced by drugs.
Examine
Examination of hereditary fecal porphyria
1. The fecal porphyrinogen III in the feces increased significantly, and the porcine coproporphyrinogen III also increased. In the acute attack, the urinary ALA and bilirubin also increased.
2. Liver biopsy fresh specimens may show red fluorescence after irradiation with ultraviolet light, and the red blood cell exposure content is normal.
According to the clinical manifestations, symptoms, signs to choose to do ECG, B-ultrasound, biochemistry and other tests.
Diagnosis
Diagnosis and identification of hereditary fecal porphyria
diagnosis
Clinical manifestations were determined in conjunction with the determination of coproporphyrinogen III oxidase activity.
Differential diagnosis
The main point of differentiation between this disease and mixed porphyria is that the disease is rarely combined with photoreaction in the clinic. The latter is mainly composed of protoporphyrin, and the symptoms of acute intermittent porphyria are mild, and ALA is excreted in urine. The amount exceeds the gall bladder.
