Introduction
Alpha-1 antitrypsin deficiency (AATD) in children is an inherited genetic disease that leads to damage in the liver or lungs, impairing their proper function. A genetic mutation results in reduced levels or an abnormal form of a protein called alpha-1 antitrypsin. The primary function of alpha-1 antitrypsin is to protect the body from a powerful enzyme made by white blood cells. This enzyme is not properly controlled in patients with alpha-1 antitrypsin deficiency, which can eventually damage the lungs. Some patients with alpha-1 antitrypsin deficiency may also be affected by liver disease and experience symptoms such as a swollen abdomen, swollen feet or legs, and yellowing of the skin or eyes. Currently, there is no known preventive measure for alpha-1 antitrypsin deficiency, and such patients may have reduced life expectancies depending on the severity of the symptoms.
What Is Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency is commonly seen as a hereditary disorder characterized by reduced levels of alpha-1 antitrypsin. Alpha-1 antitrypsin is a protein found in the blood that is produced in the liver. The primary function of this protein is to protect the lungs, enabling them to work normally. When the liver releases alpha-1 antitrypsin into the bloodstream, it diffuses into the tissues and inhibits the digestion of tissues by enzymes released from inflammatory cells like white blood cells. White blood cells provide protection against infection and also release an enzyme called neutrophil elastase, which plays a useful role in lung tissue. Neutrophil elastase digests damaged or aging cells and bacteria, promoting healing and the formation of healthier cells. However, neutrophil elastase does not have a self-regulation mechanism and can damage healthy tissue if left unchecked. In healthy lungs, alpha-1 antitrypsin protects lung tissue by trapping and neutralizing neutrophil elastase before it causes any damage. Certain gene mutations have the potential to produce an abnormal form of alpha-1 antitrypsin that remains in the liver and does not enter the bloodstream. Although the amount of alpha-1 antitrypsin produced may be close to normal values, the liver does not secrete enough into the bloodstream.
Moreover, the abnormal alpha-1 antitrypsin is defective and cannot effectively perform its function of trapping neutrophil elastase in time. When the lungs are deficient in alpha-1 antitrypsin, neutrophil elastase freely destroys lung tissue, making the lungs particularly vulnerable. Prolonged exposure to environmental toxins further increases the risk of developing lung or liver disease.
How Does the Child Get It?
As mentioned earlier, alpha-1 antitrypsin deficiency is an inherited disease that runs in families. It cannot be prevented and does not show a specific predilection for any gender, race, or ethnicity. However, it is more commonly seen in white populations in North-European areas. Each individual inherits two AAT (alpha-1 antitrypsin) genes, one from each parent, resulting in the offspring having alpha-1 antitrypsin deficiency. Sometimes, an offspring carries one normal AAT gene from one parent and an abnormal AAT gene from another parent, making them a carrier of the condition. These offspring may have lower levels of AAT protein in their blood but may not suffer from AAT deficiency. However, they can pass these mutated genes to their progeny.
What Are the Risk Factors of Alpha-1 Antitrypsin Deficiency?
Alpha-1 antitrypsin deficiency is developed by inheriting a mutated form of the SERPINA1 gene, which produces a protein that normally protects against powerful enzymes released by white blood cells known as neutrophil elastase. An individual generally has two copies of the SERPINA1 gene. Having just one mutated copy of the SERPINA1 gene poses a low possibility of inheriting the deficiency, but having two mutated copies of SERPINA1 makes the development of the deficiency more probable. Therefore, a couple with each parent carrying a mutated SERPINA1 gene is at a higher risk of having a child affected by alpha-1 antitrypsin deficiency, as each of them can pass a mutated copy of the SERPINA1 gene to the child. In some cases, mutations in the SERPINA1 gene may be less severe compared to others, resulting in a slightly reduced ability of the gene to function properly. Individuals carrying these less severe mutated genes of SERPINA1 have a lower probability of passing the disease to their children.
What Are the Symptoms of Alpha-1 Antitrypsin Deficiency?
The following symptoms can be seen in patients suffering from alpha-1 antitrypsin deficiency:
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Jaundice is characterized by the yellow appearance of the skin and the sclera at birth.
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Almost white and pale stools that are foul-smelling.
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Reduced weight gain.
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Reduced speed of eating.
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Nausea and vomiting .
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Acid reflux.
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Problems related to nursing.
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Loss of appetite.
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Enlarged spleen or abdomen.
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Reduced or no energy.
How Is Alpha-1 Antitrypsin Deficiency Diagnosed?
Many medical practitioners and researchers state that alpha-1 antitrypsin deficiency can be difficult to diagnose, as none of the physical signs and symptoms can be used to confirm the diagnosis. Pathological investigations, including genetic testing and blood tests, may provide more clarity. Some of the methods are mentioned below:
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Clinical examination of the respiratory system and chest area using X-rays or listening for abnormal sounds with a stethoscope can identify respiratory abnormalities in patients. Observing the various respiratory symptoms associated with the condition may help confirm the diagnosis.
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Genetic tests showing a mutation in the SERPINA1 gene can confirm the presence of alpha-1 antitrypsin deficiency.
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Blood tests can be performed to determine the level of alpha-1 antitrypsin in a patient's blood. Low levels may indicate alpha-1 antitrypsin deficiency.
What Is the Treatment of Alpha-1 Antitrypsin Deficiency?
No specific cure is available to treat alpha-1 antitrypsin deficiency. However, various measures can be taken to manage the symptoms of this condition, as stated below:
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Alpha-1 antitrypsin protein.
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Transplantation of the liver.
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Avoid irritants such as smoking, avoiding dust particles, fumes, etc.
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Antibiotics can be used to treat respiratory tract infections.
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Use of bronchodilators.
Conclusion
Alpha-1 antitrypsin deficiency cannot be prevented as it is hereditary and passes through families. Currently, there is no cure for this condition, but the symptoms can be managed using the measures mentioned in the article. If any symptoms occur or alpha-1 antitrypsin deficiency is suspected in a pediatric patient, it is essential to consult a physician.
