[Two infants with bleeding caused by alpha-1-antitrypsin deficiency].
Alpha-1-antitrypsin deficiency (AATD) was diagnosed in a girl aged two months and a boy aged 18 days with neonatal cholestasis syndrome and vitamin K deficiency-induced bleeding, including intracerebral bleeding. The differential diagnosis of neonatal cholestasis syndrome takes time, and treatable causes should be recognised as soon as possible. AATD is the most common hereditary cause of neonatal cholestasis syndrome. This autosomal recessive disorder is also associated with adult pulmonary emphysema. Diagnosis is simply made by determining the proteinase inhibitor (PI) phenotype with isoelectric focusing. No effective treatment is available. For patients with persistent liver disease liver transplantation may be necessary.
Gordijn
M Suzanne
MS
VU medisch centrum, afd. kindergeneeskunde, Amsterdam, The Netherlands.
Kneepkens
C M Frank
CM
D002779:Cholestasis / Q000175:diagnosis* / Q000209:etiology; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis* / Q000235:genetics; D007525:Isoelectric Focusing; D008297:Male; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency / Q000150:complications / Q000175:diagnosis* / Q000235:genetics