Alpha-1-antitrypsin deficiency
Alpha-1-antitrypsin deficiency , alpha (one) -Antitrypsin is a low-molecular-weight protease inhibitor that suppresses the activity of many proteolytic enzymes: trypsin, chymotrypsin, plasmin, thrombin, elastase, hyaluronidase, leukocyte proteases, macrophages, microorganisms, etc. At the heart of a number of hereditary diseases Lies the deficiency of a, -antitrypsin-a glycoprotein synthesized in the liver. At 0.03-0.015% (ie, 1 per 3000-6000) of newborns, the activity of alpha (one) -antitrypsin is sharply reduced. Deficiency and, -antitrypsin leads to increased accumulation of proteolytic enzymes and subsequent tissue damage. It is known, however, that in the case of deficiency and, -anti-trypsin, lesions of the lungs and the liver are not always severe and irreversible. Apparently, this deficit can be compensated by other mechanisms.
Clinical picture. Already in the neonatal period, there is an increase in the liver, development of jaundice, decolorization of feces, darkening of urine due to cholesta. Cholestasis may be incomplete, and then the severity of the clinical picture varies. Laboratory studies indicate the presence of conjugated hyperbilirubinemia, hypercholesterolemia, an increase in alkaline phosphatase, a moderate increase in the activity of blood transaminases. Such a picture is usually observed before the 10th week of life and spontaneously disappears at the end of the first half of the year. In the future, cirrhosis with its typical manifestations (hepatosplenomegaly, portal hypertension, etc.) or often recurrent jaundice with pruritus and marked hypercholesterolemia may develop.
With a pulmonary form, a picture usually occurs: progressive emphysema, however, recurrent obstructive syndrome, recurrent bronchitis, repeated pneumonia can be observed.
The diagnosis is based on anamnesis, clinical symptoms, detection of a low level of k-antitrypsin.
Differential diagnosis is carried out with atresia of biliary tract, jaundice of various genesis, immunodeficiency diseases. Treatment. Specific therapy is absent. Substitution therapy with alpha (one) -globulin fraction is ineffective due to a short half-life. In the presence of infection - active antibiotic therapy.
The outlook is unfavorable.
- Childhood diseases
- Allergic diathesis
- Aspiration of foreign bodies
- Adrenogenital syndrome
- Acerodermatitis enteropathic
- Fetal Alcohol Syndrome
- Allergosis respiratory
- Anemia in children
- Anorexia nervosa
- Teleangiectatic ataxia
- Bronchial asthma
- Bronchitis acute
- Vasculitis hemorrhagic
- Galactosemia
- Hemolytic disease of newborns
- Hemorrhagic disease of newborns
- Hemophilia
- Hypothyroidism
- Hypotrophy
- Histiocytosis X
- Glomerulonephritis
- Diabetes sugar
- Distress syndrome of respiratory newborns
- Malabsorption syndrome
- Cystic Fibrosis
- Hereditary nephritis
- Perinatal encephalopathy
- Pneumonia in newborns
- Pneumonia chronic
- Polyarthritis chronic nonspecific
- Portal hypertension
- Renal Glucosuria
- Kidney diabetes insipidus
- Rickets
- Vomiting
- Rheumatism
- Sepsis of newborns
- Spasmophilia
- Staphylococcal infection
- Stenosing laryngitis
- Subsepsis allergic Wissler-Franconi
- Convulsive Syndrome
- Toxic syndrome
- Trauma intracranial
- Tuberculosis
- Phenylketonuria
- Phosphate-diabetes
- Celiac disease
- Exudative enteropathy
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