Author/Editor | Kamhi, T; Sedmak, M | |
Title | Homozigotno pomanjkanje alfa 1-antitripsina - prikaz kliničnega primera | |
Translated title | Homozygous alpha 1-antitrypsin deficiency - case report | |
Type | članek | |
Source | Slov Pediatr | |
Vol. and No. | Letnik 11, št. 4 | |
Publication year | 2004 | |
Volume | str. 213-7 | |
Language | slo | |
Abstract | Alpha 1-antitrypsin deficiency is an autosomal recessive disorder. In the article the authors discuss the clinical manifestations, diagnostic procedures and options for treatment of tlie disease. The clinical case of a child, whose alpha 1-antitrypsin deficiency with impaired liver function was discovered after an episode of intracranial haemorrhage in the neonatal period, is presented. | |
Summary | Pomanjkanje alfa 1-antitripsina je avtosomno recesivna bolezen. V prispevku avtorji opisujejo klinično sliko, diagnostične postopke in možnosti zdravljenja bolezni. Predstavljen je deček, pri katerem je bilo pomanjkanje alfa 1-antitripsina z okvaro jetrne funkcije ugotovljeno po možganski krvavitvi v neonatalnem obdobju. | |
Descriptors | ALPHA 1-ANTITRYPSIN HOMOZYGOTE INFANT PROGNOSIS URSODEOXYCHOLIC ACID |