About: Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation

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About: Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation Goto Sponge NotDistinct Permalink

An Entity of Type : http://linked.opendata.cz/ontology/domain/vavai/Vysledek, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
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. (en)
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 (en)
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 (en)
skos:notation	RIV/00216208:11130/09:5321!RIV10-MZ0-11130___
http://linked.open...avai/riv/aktivita	Z
http://linked.open...avai/riv/aktivity	Z(MSM0021620819), Z(MZ0FNM2005)
http://linked.open...iv/cisloPeriodika	10
http://linked.open...vai/riv/dodaniDat	2010
http://linked.open...aciTvurceVysledku	Cinek, Ondřej Janda, Jan Seeman, Tomáš Malina, Michal
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Univerzita Karlova v Praze / 2. lékařská fakulta
http://linked.open...dnocenehoVysledku	332740
http://linked.open...ai/riv/idVysledku	RIV/00216208:11130/09:5321
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Actin cytoskeleton; Cyclosporine; NPHS2 gene; Proteinuria; Steroid-resistant nephrotic syndrome; alport-syndrome; wt1 (en)
http://linked.open.../riv/klicoveSlovo	Proteinuria Actin cytoskeleton alport-syndrome wt1 Cyclosporine NPHS2 gene Steroid-resistant nephrotic syndrome
http://linked.open...odStatuVydavatele	US - Spojené státy americké
http://linked.open...ontrolniKodProRIV	[95820521C734]
http://linked.open...i/riv/nazevZdroje	Pediatric Nephrology
http://linked.open...in/vavai/riv/obor	FG
http://linked.open...ichTvurcuVysledku	4 (xsd:int)
http://linked.open...cetTvurcuVysledku	4 (xsd:int)
http://linked.open...UplatneniVysledku	2009
http://linked.open...v/svazekPeriodika	24
http://linked.open...iv/tvurceVysledku	Cinek, Ondřej Janda, Jan Seeman, Tomáš Malina, Michal
http://linked.open...ain/vavai/riv/wos	000269312900021
http://linked.open...n/vavai/riv/zamer	Náhrada a podpora funkce některých životně důležitých orgánů Zdokonalení časné diagnostiky, prevence a léčby těžkých vrozených vývojových vad a chorob geneticky podmíněných či s genetickou dispozicí v prenatální a postnatální fázi vývoje
issn	0931-041X
number of pages	3 (xsd:int)
http://localhost/t...ganizacniJednotka	11130

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