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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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How Can Alpha-1 Antitrypsin Deficiency In An Infant Be Treated?

My 1 year old nephew was just diagnosed with Alpha 1 Antitrypsin Deficiency. He has an enlarged liver with a low count of 80 versus 300. How worried should we be? I read it is not necessarily fatal, but see complications with emphysema and cirrhosis are a concern. I am worried about how extensive his disease is. I guess my question is where do we go from here? Protein replacement? Will they just continue to monitor? and how often? They suggest a liver biopsy....is that necessary at this point?
Tue, 26 Jun 2018
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General Surgeon,  's  Response
Hello and Welcome to ‘Ask A Doctor’ service.
I have reviewed your query and here is my advice

Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Treatment is mainly supportive, lung problems can be managed by steroids and bronchitis dialators. Protein replacement in the form of intravenous infusions of alpha-1 antitrypsin derived from donor blood can be tried but it is very much expensive. Liver biopsy is required to assess the present status of liver and it will help in treatment. Complete cure is not possible but can continue supportive measures. Prognosis is moderately good.

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How Can Alpha-1 Antitrypsin Deficiency In An Infant Be Treated?

Hello and Welcome to ‘Ask A Doctor’ service. I have reviewed your query and here is my advice Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. Treatment is mainly supportive, lung problems can be managed by steroids and bronchitis dialators. Protein replacement in the form of intravenous infusions of alpha-1 antitrypsin derived from donor blood can be tried but it is very much expensive. Liver biopsy is required to assess the present status of liver and it will help in treatment. Complete cure is not possible but can continue supportive measures. Prognosis is moderately good. Hope I have answered your query. Let me know if I can assist you further.