Sunday, January 9, 2011

Alpha-1 antitrypsin deficiency in children

Clinical features of ZZ alpha-1 antitrypsin deficiency in children are neonatal hepatitis, failure to thrive, hepatomegaly or a coagulopathy, relatives with the condition or elevated transaminases or bilirubin in infancy. In adults, signs of early-onset emphysema and decreased vascular markings in the bases of the lung are charactertic findings.

Reference:

American Thoracic Society and European Respiratory Society (Am J Respir Crit Care Med 2003 Oct 1;168(7):818

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