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Genetske bolezni jeter = Genetic liver diseaseDolinšek, Jernej ; Mičetić-Turk, Dušanka ; Urlep Žužej, DarjaJetra igrajo pomembno vlogo pri številnih fizioloških procesih. Številne bolezni jeter so posledica genetskih okvar, ki pa so zaradi razvoja sodobne genetike vse bolj natančno opredeljene. Genetske ... metode nam v nekaterih primerih že služijo kot pomembno diagnostično orodje. V prispevku opisujemo nekatere pogostejše genetske motnje, ki prizadenejo jetra. To so nekonjugiranein konjugirane hiperbilirubinemije, s katerimi se v vsakdanji praksi srečujemo zelo pogosto. Predstavljene so bolezni, ki so posledica motenj v metabolizmu žolčnih kislin in motenj v metabolizmu bakra. Posebej opisujemo pomanjkanje alfa-1-antitripsina in Alagillov sindrom. Pri posameznih boleznih in sindromih navajamo klinično sliko, način dedovanja, genetsko okvaro ter diagnostični in terapevtski postopek. Dobro poznavanje klinične slike in diagnostičnega postopka, ki mora biti stopenjski in pogosto (ob pogostejših, običajno benignih okvarah) ne zahteva širokega spektra raznovrstnih preiskav, je velikega pomena tako za zdravnika, ki obravnava bolnika z možno genetsko okvaro jeter, kot tudi za bolnika in njegove starše.Source: Aterosklerotična srčnožilna ogroženost pri otrocih ; Pristop k otroku z jetrnimi boleznimi : zbornik predavanj (Str. 105-116)Type of material - conference contribution ; adult, seriousPublish date - 2011Language - slovenianCOBISS.SI-ID - 3901247
Author
Dolinšek, Jernej |
Mičetić-Turk, Dušanka |
Urlep Žužej, Darja
Topics
Liver Diseases |
genetics |
diagnosis |
therapy |
Jetra, bolezni |
Genetika |
Diagnostika |
Zdravljenje |
Child |
Otrok
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Database name | Field | Year |
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Links to authors' personal bibliographies | Links to information on researchers in the SICRIS system |
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Dolinšek, Jernej | 19125 |
Mičetić-Turk, Dušanka | 02057 |
Urlep Žužej, Darja | 23192 |
Source: Personal bibliographies
and: SICRIS
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