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Vezikoureterni refluks kot genetski model prirojenih anomalij sečil = Vesicoureteric reflux as genetic model of congenital anomalies of the kidney and urinary tract
Gregorič, Alojz, 1940- ...
Izhodišča. Namen našega prispevka je kratek oris sodobnih pogledov na genetiko primarnega vezikoureternega refluksa (VUR). Ta pa lahko služi tudi kot model za genetiko drugih prirojenih anomalij ...sečil. Najprej opišemo embriologijo sečil in razvojno teorijo VUR. Nato navedemo dokaze za genetsko osnovo VUR na mišjih modelih. Omenimo tudi štiri strategije, ki jih raziskovalci uporabljajo pri iskanju genov, odgovornih za razvoj VUR pri ljudeh (strategija kandidatnih genov; strategija kromosomskih nepravilnosti; strategija redkih sindromov; strategija pregledovanja celotnega genoma). Na koncu so zabeleženi tudi naši lastni rezultati o raziskovanju VUR. Zaključki. Epidemiološke, klinične in genetske raziskave podpirajo hipotezo, da je VUR kompleksna multifaktorska bolezen. VUR je genetsko heterogen, povzročajo ga številni različni geni in slučajni dejavniki iz okolja. Z odkrivanjem novih genov pa bomo lažje razumeli etiopatogenezo VUR.
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