Author/Editor		Logar-Car, Gordana; Joković, Živa; Ferlan-Marolt, Vera; Strlič, Mirko; Peče, Henrik
Title		Homozigotno pomanjkanje alfa-1 antitripsina - primeri otrok s holestazo
Translated title		Homozygous deficiency of alfa-1 antitrypsin - cases of children with cholestasis
Type		članek
Source		Zdrav Vestn
Vol. and No.		Letnik 65, št. 8
Publication year		1996
Volume		str. 435-8
Language		slo
Abstract		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.
Summary		Izhodišča. V članku opisujemo sedem otrok s homozigotnim pomanjkanjem alfa-1 antitripsina (AAT), ki so bili hospitalizirani od leta 1982-1992 na Pediatrični kliniki v Ljubljani - Klinika za gastroenterologijo, hepatologijo in prehrano. Metode in rezultati. Vsi otroci so imeli neposredno hiperbilirubinemijo in hepatomegalijo, nekateri tudi splenomegalijo, temnejši urin in svetlo ali aholično blato. Aminopeptidaze in gama GT so bili različno zvišani, AAT znižan v serumu. Trije otroci so imeli eksplorativno laparotomijo z biopsijami jeter in holecistoholangiografijo. Dva otroka sta imela ob holestazi tudi možgansko krvavitev. Deček, ki je imel možgansko krvavitev, je mentalno retardiran, ima pa tudi jetrno cirozo s portalno hipertenzijo, splenomegalijo, hipersplenzimom in varicami požiralnika. Zaključki. Pri petih otrocih smo v letu 1995 naredili Pi tipizacijo AAT z metodo elektrofokusiranja in ugotovili homozigotno stanje PiZZ pri otrocih, pri starših pa heterozigotno PiMZ. Pri dveh otrocih na osnovi klinične slike, laboratorijskih preiskav in koncentracije AAT sklepamo, da imajo homozitogno pomanjkanje AAT.
Descriptors		CHOLESTASIS LIVER CIRRHOSIS ALPHA 1-ANTITRYPSIN CHILD HOMOZYGOTE PHENOTYPE