Sample results
Neonatal hepatitis and jaundice are conditions affecting newborns characterized by liver inflammation and yellowing of the skin and eyes. They are caused by various factors including Alpha-1-Antitrypsin Deficiency, a genetic condition where abnormal protein accumulates in liver cells causing damage. The Alpha-1-Antitrypsin Quantitative test is the most important test for identifying this genetic cause of neonatal liver disease.
Neonatal hepatitis and jaundice are caused by multiple factors including genetic disorders, infections, and metabolic conditions. Alpha-1-Antitrypsin Deficiency is a primary genetic cause where the liver produces abnormal or insufficient amounts of alpha-1-antitrypsin protein, leading to protein accumulation in liver cells and resulting inflammation. Other causes include viral infections like cytomegalovirus, bacterial infections, bile duct problems, and inherited metabolic disorders that prevent the liver from processing bilirubin properly in newborns.
The Alpha-1-Antitrypsin Quantitative test is the most important test for neonatal hepatitis and jaundice because it detects deficiencies in this critical protein that protects the liver from damage. When alpha-1-antitrypsin levels are low or the protein is abnormal, it accumulates in liver cells causing inflammation and jaundice in newborns. This blood test measures the exact amount of alpha-1-antitrypsin protein present, helping doctors identify if this genetic condition is the underlying cause of your baby's liver problems. Early identification through this test is essential for appropriate monitoring and management to prevent long-term liver and lung complications.
You should get tested if your newborn shows yellowing of the skin or eyes that persists beyond two weeks of age, has dark urine or pale stools, shows poor feeding or weight gain, or has an enlarged liver or spleen detected during examination. Testing is especially important if jaundice appears within the first 24 hours after birth or if there is a family history of liver disease or Alpha-1-Antitrypsin Deficiency. Early testing allows doctors to identify the specific cause and start appropriate treatment to prevent permanent liver damage.
What this means
Your Alpha-1-Antitrypsin level is below the normal range, which may indicate a genetic deficiency. This means your lungs have less natural protection against damage, making them more vulnerable to smoking, air pollution, and other irritants. This result warrants further evaluation to determine if you have Alpha-1-Antitrypsin deficiency and may benefit from protective measures.
Recommended actions
Avoid smoking and secondhand smoke exposure completely
Minimize exposure to dust, fumes, and air pollutants at work and home
Discuss genetic phenotyping with your doctor to confirm the type of deficiency
Get vaccinated for flu and pneumonia to protect your lungs from infections
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Sample results
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