"Cystick\u00E1 fibr\u00F3za (CF) je vrozen\u00E9 onemocn\u011Bn\u00ED vyvolan\u00E9 mutacemi genu pro transmembr\u00E1nov\u00FD regul\u00E1tor vodivosti (CFTR). Onemocn\u011Bn\u00ED vede k dysfunkci \u017El\u00E1z s vn\u011Bj\u0161\u00ED sekrec\u00ED s vysokou koncentrac\u00ED chlorid\u016F v potu a tvorbou abnorm\u00E1ln\u011B vazk\u00E9ho hlenu v d\u00FDchac\u00EDm, tr\u00E1vic\u00EDm a rozmno\u017Eovac\u00EDm \u00FAstroj\u00ED. Klinick\u00E9mu obrazu dominuje chronick\u00E9 sinopulmon\u00E1ln\u00ED onemocn\u011Bn\u00ED, posti\u017Een\u00ED tr\u00E1vic\u00EDho \u00FAstroj\u00ED s poruchou stavu v\u00FD\u017Eivy, syndrom ztr\u00E1ty sol\u00ED a mu\u017Esk\u00E1 neplodnost. V diagnostice se k pr\u016Fkazu dysfunkce CFTR proteinu vyu\u017E\u00EDv\u00E1 vy\u0161et\u0159en\u00ED koncentrace chlorid\u016F v potu a mutac\u00ED genu CFTR. V l\u00E9\u010Db\u011B se uplat\u0148uje p\u0159edev\u0161\u00EDm respira\u010Dn\u00ED fyzioterapie s inhalacemi mukolytik, agresivn\u00ED antibiotick\u00E1 l\u00E9\u010Dba a vysokokalorick\u00E1 strava spolu s adekv\u00E1tn\u00ED substituc\u00ED pankreatick\u00FDmi enzymy. Zcela z\u00E1sadn\u00ED je prevence infekce d\u00FDchac\u00EDch cest rezistentn\u00EDmi bakteri\u00E1ln\u00EDmi patogeny, zejm\u00E9na Pseudomonas aeruginosa. Mezi v\u00FDznamn\u00E9 pokroky posledn\u00EDch let pak m\u016F\u017Eeme zahrnout vyu\u017Eit\u00ED novorozeneck\u00E9ho screeningu CF a l\u00E9k\u016F c\u00EDlen\u00FDch na jednotliv\u00E9 mutace genu CFTR v klinick\u00E9 praxi. S vyu\u017Eit\u00EDm modern\u00EDch l\u00E9\u010Debn\u00FDch metod a centrov\u00E9 p\u00E9\u010De se poda\u0159ilo zlep\u0161it progn\u00F3zu nemocn\u00FDch tak, \u017Ee v sou\u010Dasnosti narozen\u00E9 d\u011Bti s CF maj\u00ED p\u0159edpokl\u00E1dan\u00E9 p\u0159e\u017Eit\u00ED 40-50 let." . "Cystick\u00E1 fibr\u00F3za u dosp\u011Bl\u00FDch"@cs . "Cystick\u00E1 fibr\u00F3za u dosp\u011Bl\u00FDch" . "Cystic fibrosis (CF) is an inherited disease caused by mutations in the transmembrane conductance regulator (CFTR) gene. The disease leads to dysfunction of the exocrine glands with high concentration of chloride in the sweat and formation of abnormally viscous mucus in the respiratory, digestive and reproductive tract. Chronic sinopulmonary disease, involvement of the digestive tract with impaired nutritional status, salt loss syndrome and male infertility dominates in the clinical presentation. The examination of sweat chloride concentration and mutations in the CFTR gene is used in CF diagnostics for detection of CFTR protein dysfunction. The treatment comprises especially respiratory physiotherapy with mucolytics inhalations, aggressive antibiotic therapy and high-calorie diet together with adequate pancreatic enzymes substitution. The prevention of airway infection with resistant bacterial pathogens, particularly Pseudomonas aeruginosa, is a fundamental measure. Significant recent progress include the use of newborn screening of CF and drugs targeted to individual CFTR gene mutations in the clinical practise. The prognosis of patients has improved due to using of modern therapeutic methods in CF treatment centres. Children born at present time have survival probability 40-50 years"@en . "[575E1FAB1817]" . . "Intern\u00ED medic\u00EDna pro praxi" . "9534" . "1"^^ . "Cystick\u00E1 fibr\u00F3za (CF) je vrozen\u00E9 onemocn\u011Bn\u00ED vyvolan\u00E9 mutacemi genu pro transmembr\u00E1nov\u00FD regul\u00E1tor vodivosti (CFTR). Onemocn\u011Bn\u00ED vede k dysfunkci \u017El\u00E1z s vn\u011Bj\u0161\u00ED sekrec\u00ED s vysokou koncentrac\u00ED chlorid\u016F v potu a tvorbou abnorm\u00E1ln\u011B vazk\u00E9ho hlenu v d\u00FDchac\u00EDm, tr\u00E1vic\u00EDm a rozmno\u017Eovac\u00EDm \u00FAstroj\u00ED. Klinick\u00E9mu obrazu dominuje chronick\u00E9 sinopulmon\u00E1ln\u00ED onemocn\u011Bn\u00ED, posti\u017Een\u00ED tr\u00E1vic\u00EDho \u00FAstroj\u00ED s poruchou stavu v\u00FD\u017Eivy, syndrom ztr\u00E1ty sol\u00ED a mu\u017Esk\u00E1 neplodnost. V diagnostice se k pr\u016Fkazu dysfunkce CFTR proteinu vyu\u017E\u00EDv\u00E1 vy\u0161et\u0159en\u00ED koncentrace chlorid\u016F v potu a mutac\u00ED genu CFTR. V l\u00E9\u010Db\u011B se uplat\u0148uje p\u0159edev\u0161\u00EDm respira\u010Dn\u00ED fyzioterapie s inhalacemi mukolytik, agresivn\u00ED antibiotick\u00E1 l\u00E9\u010Dba a vysokokalorick\u00E1 strava spolu s adekv\u00E1tn\u00ED substituc\u00ED pankreatick\u00FDmi enzymy. Zcela z\u00E1sadn\u00ED je prevence infekce d\u00FDchac\u00EDch cest rezistentn\u00EDmi bakteri\u00E1ln\u00EDmi patogeny, zejm\u00E9na Pseudomonas aeruginosa. Mezi v\u00FDznamn\u00E9 pokroky posledn\u00EDch let pak m\u016F\u017Eeme zahrnout vyu\u017Eit\u00ED novorozeneck\u00E9ho screeningu CF a l\u00E9k\u016F c\u00EDlen\u00FDch na jednotliv\u00E9 mutace genu CFTR v klinick\u00E9 praxi. S vyu\u017Eit\u00EDm modern\u00EDch l\u00E9\u010Debn\u00FDch metod a centrov\u00E9 p\u00E9\u010De se poda\u0159ilo zlep\u0161it progn\u00F3zu nemocn\u00FDch tak, \u017Ee v sou\u010Dasnosti narozen\u00E9 d\u011Bti s CF maj\u00ED p\u0159edpokl\u00E1dan\u00E9 p\u0159e\u017Eit\u00ED 40-50 let."@cs . "Cystick\u00E1 fibr\u00F3za u dosp\u011Bl\u00FDch"@cs . "V" . . . "1"^^ . . . . . "RIV/00216208:11130/14:10293301" . "1212-7299" . . "RIV/00216208:11130/14:10293301!RIV15-MSM-11130___" . . "CZ - \u010Cesk\u00E1 republika" . . . "http://www.internimedicina.cz/pdfs/int/2014/02/03.pdf" . "Cystic fibrosis in adults"@en . "Cystick\u00E1 fibr\u00F3za u dosp\u011Bl\u00FDch" . "Fila, Libor" . "11130" . "2" . . "adults; Cystic fibrosis"@en . "Cystic fibrosis in adults"@en . "16" . . "7"^^ .