"Pozdn\u011B diagnostikovan\u00E1 atypick\u00E1 forma cystick\u00E9 fibr\u00F3zy"@cs . "I" . . "Cystic fibrosis is the most lethal autosomal recessive hereditary disease in Caucasians. The most serious pathological changes are situated in airways, lung and pancreas, but cystic fibrosis afflicts other parts of the digestive tract, genital syst\u00E9m and skin. Heart is involved rarely too. The most common cause of death are the lung damage and cardiopulmonary failure. The length of life of CF patients was very short in the past. The average survival is about 35 years due to management advances today. The cystic fibrosis is mostly diagnosed due to respiratory and/or gastrointestinal manifestations already within months or years of life. The part of patiens has a milder form of disease with nonspecific impairments. These impairments are often diagnosed as a different disease and are not treated correctly. We describe a a case of woman with milder CF disease, which diagnosis of CF was done even fifty-four years of age and appropriate management of this disease was started."@en . "Pozdn\u011B diagnostikovan\u00E1 atypick\u00E1 forma cystick\u00E9 fibr\u00F3zy"@cs . "2011-10-07+02:00"^^ . "Pozdn\u011B diagnostikovan\u00E1 atypick\u00E1 forma cystick\u00E9 fibr\u00F3zy" . "978-80-244-2862-8" . "2"^^ . "Cystick\u00E1 fibr\u00F3za (CF) je autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED, kter\u00E9 je nej\u010Dast\u011Bj\u0161\u00ED let\u00E1ln\u00ED vrozenou chorobou Indoevropan\u016F. P\u0159\u00ED\u010Dinou onemocn\u011Bn\u00ED je mutace genu pro transmembr\u00E1nov\u00FD regul\u00E1tor vodivosti (cystic fibrosis transmembrane conductance regulator gene - CFTR gene), kter\u00FD je odpov\u011Bdn\u00FD za tvorbu proteinu cystic fibrosis transmembrane conductance regulator (CFTR). Ten funguje jako chloridov\u00FD kan\u00E1l v apik\u00E1ln\u00ED membr\u00E1n\u011B epiteli\u00E1ln\u00EDch bun\u011Bk a ovliv\u0148uje i jin\u00E9 membr\u00E1nov\u00E9 proteiny. Do dne\u0161n\u00ED doby ji\u017E bylo pops\u00E1no okolo 1800 mutac\u00ED CFTR genu, kter\u00E9 zp\u016Fsobuj\u00ED struktur\u00E1ln\u00ED nebo funk\u010Dn\u00ED poruchy proteinu." . . "222250" . "RIV/61989592:15110/11:10225096" . "15110" . "1"^^ . "Late diagnosed atypical form of cystic fibrosis"@en . "1"^^ . . "Jakubec, Petr" . "Pozdn\u011B diagnostikovan\u00E1 atypick\u00E1 forma cystick\u00E9 fibr\u00F3zy" . . . "RIV/61989592:15110/11:10225096!RIV12-MSM-15110___" . . "late diagnosis; atypical form; cystic fibrosis"@en . . "Late diagnosed atypical form of cystic fibrosis"@en . "XX. Moravskoslezsk\u00E9 dny pneumologie" . "Vojkovsk\u00E1, M." . . . . . "[5E87D7F1BBFB]" . "Cystick\u00E1 fibr\u00F3za (CF) je autozom\u00E1ln\u011B recesivn\u00ED onemocn\u011Bn\u00ED, kter\u00E9 je nej\u010Dast\u011Bj\u0161\u00ED let\u00E1ln\u00ED vrozenou chorobou Indoevropan\u016F. P\u0159\u00ED\u010Dinou onemocn\u011Bn\u00ED je mutace genu pro transmembr\u00E1nov\u00FD regul\u00E1tor vodivosti (cystic fibrosis transmembrane conductance regulator gene - CFTR gene), kter\u00FD je odpov\u011Bdn\u00FD za tvorbu proteinu cystic fibrosis transmembrane conductance regulator (CFTR). Ten funguje jako chloridov\u00FD kan\u00E1l v apik\u00E1ln\u00ED membr\u00E1n\u011B epiteli\u00E1ln\u00EDch bun\u011Bk a ovliv\u0148uje i jin\u00E9 membr\u00E1nov\u00E9 proteiny. Do dne\u0161n\u00ED doby ji\u017E bylo pops\u00E1no okolo 1800 mutac\u00ED CFTR genu, kter\u00E9 zp\u016Fsobuj\u00ED struktur\u00E1ln\u00ED nebo funk\u010Dn\u00ED poruchy proteinu."@cs . . "Univerzita Palack\u00E9ho v Olomouci" . . "Olomouc" . . . "Olomouc" . .