{"id":25600,"date":"2025-06-05T10:45:15","date_gmt":"2025-06-05T08:45:15","guid":{"rendered":"https:\/\/www.clinica-sante.com\/ro\/?p=25600"},"modified":"2026-03-20T11:05:34","modified_gmt":"2026-03-20T09:05:34","slug":"fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr-2","status":"publish","type":"post","link":"https:\/\/www.clinica-sante.com\/ro\/fibroza-chistica-detectia-celor-mai-frecvente-36-mutatii-in-gena-cftr-2\/","title":{"rendered":"Fibroza chistic\u0103 \u2013 detec\u021bia celor mai frecvente 36 muta\u021bii \u00een gena CFTR"},"content":{"rendered":"
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Cuprins<\/p>\r\n <\/div>\r\n

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  1. \r\n Ce este fibroza chistic\u0103 (MUCOVISCIDOZA)?<\/a><\/span>\r\n <\/li>\r\n
  2. \r\n Care este cauza bolii?<\/a><\/span>\r\n <\/li>\r\n
  3. \r\n Care sunt manifest\u0103rile \u00een fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  4. \r\n Ce trebuie s\u0103 fac dac\u0103 am una sau mai multe simptome dintre cele men\u021bionate?<\/a><\/span>\r\n <\/li>\r\n
  5. \r\n Bron\u0219itele repetate, pneumoniile repetate la un copil pot s\u0103 fie \u00een cadrul fibrozei chistice sau pot \u201cs\u0103 ascund\u0103\u201d fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  6. \r\n Fibroza chistic\u0103 poate fi depistat\u0103 \u0219i la adult?<\/a><\/span>\r\n <\/li>\r\n
  7. \r\n Care sunt manifest\u0103rile \u00een fibroza chistic\u0103 atipic\u0103 (de tip adult)?<\/a><\/span>\r\n <\/li>\r\n
  8. \r\n De ce este important ca diagnosticul s\u0103 fie stabilit precoce?<\/a><\/span>\r\n <\/li>\r\n
  9. \r\n Cum poate fi diagnosticat\u0103 fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  10. \r\n Ce test\u0103ri genetice sunt disponibile pentru fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  11. \r\n Cui se recomand\u0103 testarea genetic\u0103 pentru fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  12. \r\n Exist\u0103 tratament specific pentru fibroza chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  13. \r\n Pot s\u0103 determin \u00eenainte de concep\u021bie, dac\u0103 am riscul de a da na\u0219tere unui copil cu fibroz\u0103 chistic\u0103?<\/a><\/span>\r\n <\/li>\r\n
  14. \r\n Ce fac \u00een cazul unui rezultat pozitiv?<\/a><\/span>\r\n <\/li>\r\n <\/ol>\r\n <\/div>\r\n \r\n\n\n\n
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    \n 1.<\/span>\n Ce este fibroza chistic\u0103 (MUCOVISCIDOZA)?<\/span> <\/h2>\n<\/div>\n\n\n

    Fibroza chistic\u0103<\/strong><\/span> sau MUCOVISCIDOZA <\/span><\/strong>este o boal\u0103 genetic\u0103 ce afecteaz\u0103 multiple organe, dar mai ales pl\u0103m\u00e2nii \u0219i pancreasul. Boala este prezent\u0103 de la na\u0219tere \u0219i se manifest\u0103 de obicei \u00een primii ani de via\u021b\u0103. Sunt \u00eentalnite \u0219i cazuri \u00een care boala este descoperit\u0103 mai tarziu, la v\u00e2rsta de adolescent sau adult.<\/p>\n

    Fibroza chistic\u0103<\/span><\/strong> este cea mai frecvent\u0103 boal\u0103 monogenic\u0103 \u00een r\u00e2ndul popula\u021biei de origine caucazian\u0103. Inciden\u021ba bolii \u00een popula\u021bia alb\u0103 este de 1:2500-3500 nou-n\u0103scu\u021bi. Frecven\u021ba purt\u0103torilor de fibroza chistic\u0103\u00a0este de 1:25 p\u00e2n\u0103 la 1:28 persoane \u00een popula\u021bia caucazian\u0103.<\/p>\n<\/div>\n\n\n

    \n sus<\/span>\n<\/div>\n\n\n
    \n

    \n 2.<\/span>\n Care este cauza bolii?<\/span> <\/h2>\n<\/div>\n\n\n

    Fibroza chistic\u0103<\/span><\/strong> este cauzat\u0103 de prezen\u021ba unor muta\u021bii \u00een gena CFTR<\/strong><\/span> care o transform\u0103 \u00eentr-o gen\u0103 anormal\u0103\/defectuoas\u0103.<\/p>\n

    Fiecare individ mo\u0219tene\u0219te o gen\u0103 CFTR<\/span><\/strong> de la mama \u0219i o gen\u0103 CFTR<\/span> <\/strong>de la tata. Fiind o boal\u0103 cu transmitere recesiv\u0103, ea se manifest\u0103 la indivizii care mo\u0219tenesc ambele gene anormale.<\/p>\n

    Gena anormal\u0103 conduce la sinteza unei proteine anormale \u0219i la apari\u021bia manifest\u0103rilor \u00een fibroza chistic\u0103 ca urmare a producerii unui mucus vascos \u00een sistemul respirator \u0219i digestiv. Dopurile de mucus gros vor astup\u0103 par\u021bial sau total c\u0103ile respiratorii, canalele biliare \u0219i pancreatice.<\/p>\n<\/div>\n\n\n

    \n sus<\/span>\n<\/div>\n\n\n
    \n

    \n 3.<\/span>\n Care sunt manifestarile \u00een fibroz\u0103 chistic\u0103?<\/span> <\/h2>\n<\/div>\n\n\n

    Pacien\u021bii cu fibroza chistic\u0103 pot avea simptome diferite \u0219i grade diferite de severitate.<\/p>\n<\/div>\n\n\n

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    1. \n

      Simptome respiratorii:<\/strong><\/span><\/p>\n

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