Alpha-1-antitrypsin deficiency – Of failure – Alpha-1 antiprotease deficiency

Description deficiency Alpha-1-antitrypsin

Alpha-1-antitrypsin (JSC) deficiency is a rare genetic disorder, which causes a lack of the enzyme AAT. It can cause lung and liver disease in children and adults.

Causes of deficiency of alpha 1-antitrypsin

Of failure – hereditary disorder. It is transmitted from parents to children. Deficiency occurs, when the liver does not produce enough AAT. AAT protein is, which protects the lungs and other organs from damage. When the level is too low AAT, problems may arise with light.

People with AAT deficiency can also develop liver disease. AAT deficiency is a major cause of genetic liver disease in children. The liver produces the wrong version of AAT protein, which accumulates in it. This can result in damage to the liver cells. In some cases, can cause serious illness.

Risk factors for deficiency Alpha-1-antitrypsin

If any of your parents have the gene AAT deficiency, you have the risk of this disease. If both your parents are carriers of the gene, you are at higher risk of developing.

The symptoms of AAT deficiency:

The first symptoms of the disease often appear in adulthood by 20-50 years. If you have any of the following symptoms, Do not think, it is due to AAT deficiency. These symptoms may be caused by other conditions.

Symptoms:

• Shortness of breath with little physical activity;
• Cough (mucus from deep inside the lungs);
• Breathlessness;
• Weight loss;
• Эmfizema (disease of the lungs caused by the expansion of air spaces distal bronchioles);
• Pannykulyt (red spots on the skin);

Besides, when liver disease in adults, The following symptoms may be present:

• Itch;
• Jaundice (yellowing of the skin and / or whites of the eyes);
• Vomiting;
• Constipation;
• Abdominal pain.

Symptoms in children may occur in the first week of life or later in childhood. If your child has any of these symptoms, Do not think, it is due to AAT deficiency. These symptoms may be caused by other conditions.

The symptoms of AAT deficiency in children:

• Jaundice;
• Delays in development;
• Fetid stools;
• Constipation;
• Vomiting;
• Itch.

In older children:

• Fatigue;
• Poor appetite;
• Constipation.

Diagnosis of deficiency Alpha-1-antitrypsin

It is necessary to make a physical inspection. The attending physician may refer you to a specialist, who specializes in the lungs or the liver, depending on the symptoms, that you obnaruzhatsya.

It is necessary to make analyzes, includes the following:

• Blood tests, to determine the level of AAT in blood;
• Fluorography, to detect problems with light;
• Genetic testing to identify genetic causes of AAT;
• Liver biopsy, a small piece of the liver is removed and examined for the presence of inflammation or scarring.

Treatment deficiency Alpha-1-antitrypsin

The treatment includes the following procedures:

• Treatment of Pulmonary Diseases;
• Reception of necessary medicines.

They can be assigned to drugs to improve AAT. They are introducing weekly by injection. If you have emphysema, You may be prescribed inhaled steroids and other medicines to improve breathing.

Smoking Cessation

If you smoke, you must try to get rid of it. Smoking can affect the lungs.

Treatment of liver

There is no specific treatment for liver disease due to AAT deficiency. Treatment simptomticheskoe to prevent complications. Treatment may include:

• Vitaminnыe supplements (eg, IS, D and K);
• Medication against jaundice;
• Roasted transplant (rarely).

Prevention of deficiency of alpha 1-antitrypsin

You can not prevent AAT deficiency, if it is hereditary. But, if you have AAT deficiency, you must take the following, to reduce the chances of developing emphysema:

• Quit smoking;
• Avoid passive smoking;
• Avoid exposure to air pollution or irritants;
• Wear protective clothing when exposed to irritants or toxins at work.