"332740" . "0931-041X" . "Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation"@en . . "3"^^ . . . "000269312900021" . "Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation" . . . "Malina, Michal" . "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." . . . "[95820521C734]" . "Cinek, Ond\u0159ej" . "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 . . . . "24" . "Actin cytoskeleton; Cyclosporine; NPHS2 gene; Proteinuria; Steroid-resistant nephrotic syndrome; alport-syndrome; wt1"@en . . "Janda, Jan" . . "11130" . "RIV/00216208:11130/09:5321" . . "Seeman, Tom\u00E1\u0161" . "4"^^ . . "Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation" . "Pediatric Nephrology" . "4"^^ . "Z(MSM0021620819), Z(MZ0FNM2005)" . . "RIV/00216208:11130/09:5321!RIV10-MZ0-11130___" . . "US - Spojen\u00E9 st\u00E1ty americk\u00E9" . . . "10" . . . . . . "Partial remission with cyclosporine A in a patient with nephrotic syndrome due to NPHS2 mutation"@en .