Avtor/Urednik		Schaerer, K
Naslov		Diagnostics of hereditary nephropaties
Prevedeni naslov		Diagnostika dednih nefropatij
Tip		članek
Vir		Slov Pediatr
Vol. in št.		Letnik 7, št. Suppl 1
Leto izdaje		2000
Obseg		str. 100-3
Jezik		eng
Abstrakt		Hereditary nephropathies are gaining interest in pediatric nephrology mainly because of their frequent progression to renal failure. In recent years, their diagnosis has been facilitated by the introduction of molecular genetic methods and the detection of genomic mutations. Hereditary nephropathies may be divided in 4 major groups: hereditary cystic nephropathies, hereditary glomerular disorders, hereditary tubular disorders, and hereditary nephropathies associated with inherited metabolic or other systemic disorders or malformation syndromes. This review draws attention to some actual clinical issues and recent developments in molecular genetic diagnosis.
Izvleček		Zanimanje za dedne nefropatije se v pediatrični nefrologiji povečuje predvsem zaradi tega, ker pogosto napredujejo v ledvično odpoved. Njihova diagnostika je bila v zadnjih letih olajšana, ker so bile uvedene metode molekularne genetike in ker so začeli odkrivati genske mutacije. Dedne nefropatije lahko razdelimo na štiri glavne skupine: dedne cistične nefropatije, dedne glomerulne okvare, dedne tubulne okvare in dedne nefropatije, ki so povezane s podedovanimi presnovnimi ali drugimi sistemskimi okvarami ali malformacijskimi sindromi. Naš pregledni članek opozarja na nekatera aktualna klinična vprašanja in sodobne poglede v molekularni genetski diagnostiki.
Deskriptorji		KIDNEY DISEASES HEREDITARY DISEASES CHILD NEPHROTIC SYNDROME NEPHRITIS, HEREDITARY FABRY'S DISEASE CYSTINOSIS GLOMERULONEPHRITIS