Author/Editor		Schaerer, K
Title		Diagnostics of hereditary nephropaties
Translated title		Diagnostika dednih nefropatij
Type		članek
Source		Slov Pediatr
Vol. and No.		Letnik 7, št. Suppl 1
Publication year		2000
Volume		str. 100-3
Language		eng
Abstract		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.
Summary		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.
Descriptors		KIDNEY DISEASES HEREDITARY DISEASES CHILD NEPHROTIC SYNDROME NEPHRITIS, HEREDITARY FABRY'S DISEASE CYSTINOSIS GLOMERULONEPHRITIS