PMID: 6978107Jan 1, 1982Paper

Alpha-1-antitrypsin deficiency presenting as a bleeding diathesis in the newborn

Archives of Disease in Childhood
P L HopeI C Normand

Abstract

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.

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