"Gitelman\u00B4s syndrome"@en . "Pojem d\u011Bdi\u010Dn\u00E9 tubulopatie zahrnuje rozd\u00EDln\u00E9 poruchy ren\u00E1ln\u00EDho transportu elektrolyt\u016F. Tyto poruchy jsou shrnuty pod n\u00E1zvem Bartter\u016Fv respektive Gitelman\u016Fv syndrom (6, 7, 9, 14, 15, 17, 22). Ob\u011B varianty jsou autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 a maj\u00ED podobn\u00E9 charakteristick\u00E9 klinick\u00E9 projevy. Bartter\u016Fv syndrom je klasifikov\u00E1n do 3 genetick\u00FDch skupin (3, 8, 18): 1. mutace genu k\u00F3duj\u00EDc\u00EDho ren\u00E1ln\u00ED furosemid-senzitivn\u00ED Na+/K+/2Cl- kontransport\u00E9r (NKCC2, SLC12A1), 2. mutace genu k\u00F3duj\u00EDc\u00EDho ATP-senzitivn\u00ED kan\u00E1l K (ROMK, KCNJI), 3. delece / mutace genu k\u00F3duj\u00EDc\u00EDho ren\u00E1ln\u00ED chloridov\u00FD kan\u00E1l (CIC-Kb, CLCNKB), t\u00E9\u017E ozna\u010Dovan\u00FD jako tzv. klasick\u00FD Bartter\u016Fv syndrom (17)."@cs . "Gitelman\u016Fv syndrom" . . "[22C9C83A8F37]" . "RIV/00216208:11150/06:00005129" . "8" . . . . . . "Intern\u00ED medic\u00EDna pro praxi" . "Ceeov\u00E1, V\u011Bra" . "Gitelman\u00B4s syndrome"@en . "3"^^ . "1212-7299" . . "CZ - \u010Cesk\u00E1 republika" . "RIV/00216208:11150/06:00005129!RIV08-MSM-11150___" . . . "33;35" . . "Gitelman\u00B4s; syndrome"@en . "Gitelman\u016Fv syndrom" . . "1" . "477106" . . . "Gitelman\u016Fv syndrom"@cs . . "Pojem d\u011Bdi\u010Dn\u00E9 tubulopatie zahrnuje rozd\u00EDln\u00E9 poruchy ren\u00E1ln\u00EDho transportu elektrolyt\u016F. Tyto poruchy jsou shrnuty pod n\u00E1zvem Bartter\u016Fv respektive Gitelman\u016Fv syndrom (6, 7, 9, 14, 15, 17, 22). Ob\u011B varianty jsou autozom\u00E1ln\u011B recesivn\u011B d\u011Bdi\u010Dn\u00E9 a maj\u00ED podobn\u00E9 charakteristick\u00E9 klinick\u00E9 projevy. Bartter\u016Fv syndrom je klasifikov\u00E1n do 3 genetick\u00FDch skupin (3, 8, 18): 1. mutace genu k\u00F3duj\u00EDc\u00EDho ren\u00E1ln\u00ED furosemid-senzitivn\u00ED Na+/K+/2Cl- kontransport\u00E9r (NKCC2, SLC12A1), 2. mutace genu k\u00F3duj\u00EDc\u00EDho ATP-senzitivn\u00ED kan\u00E1l K (ROMK, KCNJI), 3. delece / mutace genu k\u00F3duj\u00EDc\u00EDho ren\u00E1ln\u00ED chloridov\u00FD kan\u00E1l (CIC-Kb, CLCNKB), t\u00E9\u017E ozna\u010Dovan\u00FD jako tzv. klasick\u00FD Bartter\u016Fv syndrom (17)." . "The notion of hereditary tubulopathy includes various disorders of renal transport of electrolytes. These disorders are summed up under the name Bartter\u00B4s or Gitelman\u00B4s syndrome (6, 7, 9, 14, 15, 17, and 22). Both the variants are autosomally recessively hereditary and have similar characteristic clinical signs. Bartter\u00B4s syndrome is classified into 3 genetical groups (3, 8. 18): 1st - mutation of the gene coding the renal furosemid-sensitive Na+/K+/2Cl- contransporter (NKCC2, SLC12A1), 2nd \u2013 mutation of the gene coding ATP-sensitive channel K (ROMK, KCNJ),3rd .deletion/ mutation of the gene coding renal chloride channel (CIC-Kb, CLCNKB), also designated as the so-called classical Bartter\u00B4s syndrome (17)."@en . "3"^^ . "S, Z(MO0FVZ0000503)" . . "11150" . . "Gitelman\u016Fv syndrom"@cs . "\u010C\u00E1p, Jan" . "2"^^ .