[The genetic basis of childhood nephrotic syndrome].
Great progress has been made of late in understanding the mechanisms of proteinuria, the structure and function of the slit diaphragm, and the genetic background of congenital nephrotic syndromes in new borns and infants. This paper presents recent achievements of molecular genetics in unraveling the causes of inherited disorders, e.g. Finnish-type nephrotic, Denys-Drash and Frasier's syndromes, as well as sporadic focal-segmental glomerulosclerosis. A change in the routine policy used in evaluating the causes of childhood nephrotic syndrome is discussed.
Maruniak-Chudek
Iwona
I
Klinika Intensywnej Terapii i Patologii Noworodka, Slaskiej Akademii Medycznej w Katowicach. ich@mp.pl
Niemir
Zofia I
ZI
Swietliński
Janusz
J
D000185:Actinin / Q000378:metabolism; D030321:Denys-Drash Syndrome / Q000235:genetics; D052159:Frasier Syndrome / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins / Q000378:metabolism; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics*; D011507:Proteinuria / Q000209:etiology; D025721:WT1 Proteins / Q000378:metabolism
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C407223:NPHS2 protein; D025721:WT1 Proteins; C113267:nephrin; D000185:Actinin