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  • Homozigotno pomanjkanje alfa-1 antitripsina - primeri otrok s holestazo = Homozygous deficiency of alfa-1 antitrypsin - cases of children with cholestasis
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    Background. The article deals with seven children with homozygous deficiency of alpha-1 antitrypsin (AAT), who where hospitalized from 1982-1992 at Pediatric Clinic in Ljubljana - Clinic for ... Gastroenterology, Hepatology and Nutrition. Methods and results. All the children had direct hyperbilirubinaemia and hepatomegalia, some also splenomegalia, darker urine and light or acholic stool. The levels of aminopeptidases and gamma GT were differently high, while the level of AAT in the serum was low. At three children explorative laparotomy was performed with live biopsies and cholecystocholangiography. At two cases with cholestasis the cerebral haemorrhage was established. The boy who had cerebral haemorrhage is mentally retarded. He also has liver cirrhosis with portal hypertension, splenomegalia, hypersplenismus and varices of oesophagi. Conclusions. At five children Pi typing of AAT was performed with isoelectric focusing. Homozygous PiZZ was established at children while beterozygous PiMZ at their parents. On the basis of clinical signs, laboratory investigations and quantitative level of AAT homozygous deficency of AAT is expected at two children.
    Vir: Zdravniški vestnik : glasilo Slovenskega zdravniškega društva = Slovenian medical journal = journal of Slovenian Medical Association. - ISSN 1318-0347 (Let. 65, št. 8, 1996, str. 435-438)
    Vrsta gradiva - članek, sestavni del
    Leto - 1996
    Jezik - slovenski
    COBISS.SI-ID - 4837593

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