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Statements

Subject Item
n2:RIV%2F00216208%3A11130%2F09%3A5321%21RIV10-MZ0-11130___
rdf:type
n10:Vysledek skos:Concept
dcterms:description
Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m(2) per day) without any negative effects on renal function (stable glomerular filtration rate 130-150 ml/min per 1.73 m(2)). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate. Autosomal recessive steroid-resistant nephrotic syndrome (NS) is a rare, genetically determined nephropathy caused mainly by a mutation in the NPHS2 gene. This type of NS is usually resistant to other immunosuppressive therapy as well, but a few cases of cyclosporine A-induced partial remission of inherited NS have been reported. We present a boy that developed NS at the age of 18 months. There was no decrease of proteinuria on standard prednisolone therapy, and a diagnosis of steroid-resistant NS was established. However, the proteinuria decreased significantly following the initiation of cyclosporine A therapy (from 1280 to 380 mg/m(2) per day) without any negative effects on renal function (stable glomerular filtration rate 130-150 ml/min per 1.73 m(2)). The molecular genetic test revealed a homozygous R138Q mutation in the NPHS2 gene. Our case demonstrates that cyclosporine A can induce partial remission in patients with genetic forms of NS without influencing the glomerular filtration rate.
dcterms:title
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation
skos:prefLabel
Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation
skos:notation
RIV/00216208:11130/09:5321!RIV10-MZ0-11130___
n3:aktivita
n14:Z
n3:aktivity
Z(MSM0021620819), Z(MZ0FNM2005)
n3:cisloPeriodika
10
n3:dodaniDat
n17:2010
n3:domaciTvurceVysledku
n6:2905922 n6:7384874 n6:2277956 n6:7517890
n3:druhVysledku
n8:J
n3:duvernostUdaju
n9:S
n3:entitaPredkladatele
n11:predkladatel
n3:idSjednocenehoVysledku
332740
n3:idVysledku
RIV/00216208:11130/09:5321
n3:jazykVysledku
n15:eng
n3:klicovaSlova
Actin cytoskeleton; Cyclosporine; NPHS2 gene; Proteinuria; Steroid-resistant nephrotic syndrome; alport-syndrome; wt1
n3:klicoveSlovo
n7:wt1 n7:alport-syndrome n7:NPHS2%20gene n7:Proteinuria n7:Steroid-resistant%20nephrotic%20syndrome n7:Actin%20cytoskeleton n7:Cyclosporine
n3:kodStatuVydavatele
US - Spojené státy americké
n3:kontrolniKodProRIV
[95820521C734]
n3:nazevZdroje
Pediatric Nephrology
n3:obor
n18:FG
n3:pocetDomacichTvurcuVysledku
4
n3:pocetTvurcuVysledku
4
n3:rokUplatneniVysledku
n17:2009
n3:svazekPeriodika
24
n3:tvurceVysledku
Malina, Michal Cinek, Ondřej Janda, Jan Seeman, Tomáš
n3:wos
000269312900021
n3:zamer
n16:MSM0021620819 n16:MZ0FNM2005
s:issn
0931-041X
s:numberOfPages
3
n12:organizacniJednotka
11130