content:alpha-1_antitrypsin_serum

Alpha-1 antitrypsin, serum

Late neonatal intracranial haemorrhage

  • Alpha-1-antitrypsin (AAT) deficiency is a rare genetic disorder characterized by hepatitis in neonates, childhood and adulthood (protease inhibitor (PI)*ZZ) and emphysema with or without hepatitis (PI*ZZ)/(PI*SS,SZ or null) in adulthood[1].
  • AAT deficiency is a rare genetic disorder that can lead to a serious bleeding disorder in the neonatal period if not recognised on time

1. a Kats-Ugurlu G, Hogeveen M, Driessen A, van den Ouweland AMW, Hulsbergen-van de Kaa C. Diagnosis of alpha-1-antitrypsin deficiency in bleeding disorder-related neonatal death. Eur J Pediatr. 2011 Jan;170(1):103-6. doi: 10.1007/s00431-010-1280-x. Epub 2010 Sep 2.
[PMID: 20811907] [PMCID: 3016164] [DOI: 10.1007/s00431-010-1280-x]
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