Nizhnov syndrome
Introduction
Introduction to Niznov syndrome Nezelof's syndrome (nezelicalymphoplasia), but not associated with parathyroid gland insufficiency, is an autosomal recessive disorder, and some patients have defects in purine nucleoside phosphorylase, ie The enzyme lacks in the alternative pathway. It belongs to the primary combined immunodeficiency disease. basic knowledge The proportion of illness: 0.02% Susceptible people: no special people Mode of infection: non-infectious Complications: chickenpox bacterial pneumonia sepsis
Cause
The cause of Niznov syndrome
(1) Causes of the disease
Due to autosomal recessive genetic defects, the thymus is not caused by lymphatic dysplasia.
(two) pathogenesis
The disease belongs to autosomal recessive genetic disease, and some patients have defects in purine nucleoside phosphorylase, that is, lack of enzymes in the alternative pathway.
Prevention
Niznov syndrome prevention
1. Strengthen care and nutrition to improve patient resistance and immunity.
2. Prevention of infection should pay attention to isolation and minimize contact with pathogens. For severe combined immunodeficiency disease, the child must be placed in a sterile warehouse for a long time until the immune function is reestablished.
3. Avoid vaccination For newborns with suspected immunodeficiency, vaccination against vaccinia, BCG and other live vaccines should be prohibited to avoid systemic vaccinia caused by vaccination against vaccinia. Infection with BCG causes systemic dissemination and death, and measles should be avoided. Polio vaccine.
Complication
Niznov syndrome complications Complications, chickenpox, bacterial pneumonia
Fatal varicella, cysticercosis of the lungs, bacterial pneumonia and sepsis, often cause systemic acne after vaccination.
Symptom
Symptoms of Niznov syndrome Common symptoms Candida infection sepsis
Severe and repeated local or systemic Candida infections, lethal varicella, cysticercosis, bacterial pneumonia and sepsis in infancy, often cause systemic acne after vaccination, and the incidence of autoimmunity is high, Coomb's The test-positive hemolytic anemia is common, and the peripheral blood lymphocytes of the patient are significantly reduced, but the immunoglobulin levels are normal or near normal.
Examine
Examination of Niznov syndrome
Coomb's test-positive hemolytic anemia is common, and peripheral blood lymphocytes are significantly reduced, but immunoglobulin levels are normal or near normal.
Diagnosis
Diagnosis and differentiation of Niznov syndrome
Peripheral blood lymphocytes were significantly reduced in patients, but immunoglobulin levels were normal or near normal.
