Alpha-1-antitrypsin deficiency presenting as a bleeding diathesis in the newborn.
Three cases of alpha-1-antitrypsin deficiency are reported. Each infant presented in the newborn period with a haemorrhagic tendency which responded to vitamin K. Two of them subsequently developed cirrhosis, and Case 2 is one of the few reported cases in infantile cirrhosis associated with the heterozygous protease inhibitor (Pi) SZ phenotype. On the basis of these 3 patients we feel that the exclusion of alpha-1-antitrypsin deficiency by Pi phenotyping should be considered in any baby presenting with a bleeding diathesis, especially in view of the genetic implications of the homozygous Pi ZZ phenotype.
D006474:Hemorrhagic Disorders / Q000209:etiology* / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000209:etiology* / Q000378:metabolism; D008103:Liver Cirrhosis / Q000209:etiology; D008297:Male; D019896:alpha 1-Antitrypsin Deficiency