"Nefrotick\u00FD syndrom (NS) je \u010Dast\u00FDm glomerul\u00E1rn\u00EDm onemocn\u011Bn\u00EDm u d\u011Bt\u00ED. Vedle forem idiopatick\u00FDch, jejich\u017E p\u0159esn\u00E1 etiologie nen\u00ED je\u0161t\u011B pln\u011B objasn\u011Bna, existuj\u00ED formy geneticky podm\u00EDn\u011Bn\u00E9. Tyto monogenn\u00ED formy se zcela z\u00E1sadn\u011B li\u0161\u00ED v l\u00E9\u010Db\u011B a v progn\u00F3ze od forem idiopatick\u00FDch. Klinicky i histologicky jsou ov\u0161em tyto formy onemocn\u011Bn\u00ED zcela neodli\u0161iteln\u00E9. Jedinou mo\u017Enost\u00ED diferenci\u00E1ln\u00ED diagnostiky tedy z\u016Fst\u00E1v\u00E1 molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED. V sou\u010Dasnosti je zn\u00E1mo n\u011Bkolik gen\u016F zp\u016Fsobuj\u00EDc\u00EDch nefrotick\u00FD syndrom. V d\u011Btsk\u00E9m v\u011Bku jsou nejd\u016Fle\u017Eit\u011Bj\u0161\u00ED geny NPHS1, NPHS2, WT1 a LAMB2. V\u011Bt\u0161ina geneticky podm\u00EDn\u011Bn\u00FDch nefrotick\u00FDch syndrom\u016F nereaguje na inici\u00E1ln\u00ED l\u00E9\u010Dbu kortikoidy. Proto by u v\u0161ech pacient\u016F s kortikorezistentn\u00EDm nefrotick\u00FDm syndromem m\u011Blo b\u00FDt pom\u00FD\u0161leno na geneticky podm\u00EDn\u011Bn\u00FD NS a pacienti by m\u011Bli b\u00FDt molekul\u00E1rn\u011B geneticky vy\u0161et\u0159eni."@cs . . . . . "\u010Cesko-slovensk\u00E1 pediatrie" . . "2" . "RIV/00064203:_____/09:5188" . "V" . . . "3"^^ . "Nephrotic syndrome (NS) is a common glomerulopathy in childhood. Beside idiopathic forms with unclear etiology, genetically determined forms occur. These monogenic forms essentially differ in treatment and patient\u2019s prognosis from the idiopathic ones. They are also clinically and histologically indistinguishable. The only option of differential diagnosis is molecular genetic testing. The most prominent genes causing genetically determined nephrotic syndrome are NPHS1, NPHS2, WT1 and LAMB2. Most of the cases of genetically caused NS are resistant to initial steroid therapy. In all patients with steroid-resistant nephrotic syndrome (SRNS) genetic background should be examined and genetically caused NS should be taken to differential diagnosis. Patients with SRNS should be molecularly genetically tested, at best at the time of renal biopsy."@en . "3"^^ . "Geneticky podm\u00EDn\u011Bn\u00E9 formy nefrotick\u00E9ho syndromu u d\u011Bt\u00ED"@cs . "NPHS2; Podocin; Steroid-resistant nephrotic syndrome; WT1"@en . "Geneticky podm\u00EDn\u011Bn\u00E9 formy nefrotick\u00E9ho syndromu u d\u011Bt\u00ED" . . "CZ - \u010Cesk\u00E1 republika" . "Seeman, Tom\u00E1\u0161" . "0069-2328" . . "Genetically Determined Forms of Nephrotic Syndrome in Children"@en . . . . "Genetically Determined Forms of Nephrotic Syndrome in Children"@en . "6"^^ . "64" . "Janda, Jan" . "RIV/00064203:_____/09:5188!RIV10-MZ0-00064203" . . "Geneticky podm\u00EDn\u011Bn\u00E9 formy nefrotick\u00E9ho syndromu u d\u011Bt\u00ED" . "Geneticky podm\u00EDn\u011Bn\u00E9 formy nefrotick\u00E9ho syndromu u d\u011Bt\u00ED"@cs . . "Malina, Michal" . . . . "[51839AC5B030]" . "Nefrotick\u00FD syndrom (NS) je \u010Dast\u00FDm glomerul\u00E1rn\u00EDm onemocn\u011Bn\u00EDm u d\u011Bt\u00ED. Vedle forem idiopatick\u00FDch, jejich\u017E p\u0159esn\u00E1 etiologie nen\u00ED je\u0161t\u011B pln\u011B objasn\u011Bna, existuj\u00ED formy geneticky podm\u00EDn\u011Bn\u00E9. Tyto monogenn\u00ED formy se zcela z\u00E1sadn\u011B li\u0161\u00ED v l\u00E9\u010Db\u011B a v progn\u00F3ze od forem idiopatick\u00FDch. Klinicky i histologicky jsou ov\u0161em tyto formy onemocn\u011Bn\u00ED zcela neodli\u0161iteln\u00E9. Jedinou mo\u017Enost\u00ED diferenci\u00E1ln\u00ED diagnostiky tedy z\u016Fst\u00E1v\u00E1 molekul\u00E1rn\u011B genetick\u00E9 vy\u0161et\u0159en\u00ED. V sou\u010Dasnosti je zn\u00E1mo n\u011Bkolik gen\u016F zp\u016Fsobuj\u00EDc\u00EDch nefrotick\u00FD syndrom. V d\u011Btsk\u00E9m v\u011Bku jsou nejd\u016Fle\u017Eit\u011Bj\u0161\u00ED geny NPHS1, NPHS2, WT1 a LAMB2. V\u011Bt\u0161ina geneticky podm\u00EDn\u011Bn\u00FDch nefrotick\u00FDch syndrom\u016F nereaguje na inici\u00E1ln\u00ED l\u00E9\u010Dbu kortikoidy. Proto by u v\u0161ech pacient\u016F s kortikorezistentn\u00EDm nefrotick\u00FDm syndromem m\u011Blo b\u00FDt pom\u00FD\u0161leno na geneticky podm\u00EDn\u011Bn\u00FD NS a pacienti by m\u011Bli b\u00FDt molekul\u00E1rn\u011B geneticky vy\u0161et\u0159eni." . "316188" .