A case with alpha-1 antitrypsin deficiency who had severe bleeding

KULOĞLU Z., KANSU TANCA A., İNCESOY ÖZDEMİR S., Demirceken F., Erden E., Girgin N.

TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS, vol.41, no.4, pp.228-232, 2006 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 41 Issue: 4
  • Publication Date: 2006
  • Journal Name: TURK PEDIATRI ARSIVI-TURKISH ARCHIVES OF PEDIATRICS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.228-232
  • Keywords: Alpha-1-antitrypsin deficiency, cholestasis, late hemorrhagic disease
  • Ankara University Affiliated: Yes

Abstract

Alpha-1-antitrypsin deficiency is an autosomal recessive disease in which liver disease results from retention of abnormal alpha-1-antitrypsin in the endoplasmic reticulum of hepatocytes. In childhood, alpha-1-antitrypsin deficiency may present as cholestasis, late hemorrhagic disease of infancy or chronic liver disease. Here, we present a case with alpha-1-antitrypsin deficiency who developed cholestasis and late hemorrahagic disease of infancy. We emphasize that the cause of late hemorrhagic disease of infancy may be unrecognized neonatal cholestasis and, that all infants who have jaundice for more than 15 days should be evaluated for neonatal cholestasis. Unrecognized neonatal cholestasis can result in severe conditions such as intracranial bleeding therefore, early diagnosis and treatment are essential.