Fibroza chistic\u0103, una dintre cele mai grave \u0219i frecvente boli genetice diagnosticate \u00een copil\u0103rie, continu\u0103 s\u0103 fie subdiagnosticat\u0103 \u00een Rom\u00e2nia, de\u0219i depistarea imediat dup\u0103 na\u0219tere poate schimba radical evolu\u021bia bolii. Speciali\u0219tii din Timi\u0219oara atrag aten\u021bia c\u0103 interven\u021bia rapid\u0103, \u00eenainte de apari\u021bia simptomelor, poate face diferen\u021ba dintre complica\u021bii severe \u0219i o via\u021b\u0103 mult mai bine controlat\u0103.<\/p>\n
Boala afecteaz\u0103 \u00een principal pl\u0103m\u00e2nii \u0219i sistemul digestiv, prin acumularea unor secre\u021bii dense \u0219i v\u00e2scoase care favorizeaz\u0103 infec\u021biile respiratorii repetate \u0219i problemele digestive severe.<\/p>\n
\u201eFibroza chistic\u0103 \u00eenseamn\u0103 acumularea unor secre\u021bii dense \u0219i v\u00e2scoase la nivelul pl\u0103m\u00e2nilor \u0219i al altor organe, ceea ce favorizeaz\u0103 infec\u021biile respiratorii repetate \u0219i dificult\u0103\u021bile de digestie. Netratat\u0103 la timp, boala poate duce la afectarea progresiv\u0103 a func\u021biei pulmonare \u0219i la \u00eent\u00e2rzieri de cre\u0219tere. Tocmai de aceea, diagnosticul stabilit \u00eenainte de apari\u021bia manifest\u0103rilor clinice poate face diferen\u021ba \u00eentre o evolu\u021bie sever\u0103 \u0219i un control mult mai bun al bolii\u201d, explic\u0103 prof. dr. Ioana Ciuc\u0103, medic primar pneumolog \u0219i coordonator al Compartimentului de Pneumologie Pediatric\u0103 din cadrul Clinicii II Pediatrie Bega din Timi\u0219oara.<\/em><\/p>\n Medicii spun c\u0103 screeningul neonatal este esen\u021bial, deoarece permite nu doar identificarea precoce a bolii, ci \u0219i monitorizarea imediat\u0103 a copilului \u0219i \u00eenceperea tratamentului \u00eenainte ca afec\u021biunea s\u0103 provoace leziuni ireversibile.<\/p>\n Primele semne ale bolii pot include tuse cronic\u0103 \u00eenso\u021bit\u0103 de expectora\u021bie, respira\u021bie \u0219uier\u0103toare recurent\u0103, scaune grase \u0219i voluminoase, dar \u0219i afec\u021biuni ORL repetate, precum polipoza nazal\u0103, rinosinuzita cronic\u0103 sau sinuzitele recurente.<\/p>\n \u00cen formele avansate, fibroza chistic\u0103 poate provoca insuficien\u021b\u0103 respiratorie cronic\u0103, afectare hepatic\u0103, diabet zaharat \u0219i complica\u021bii osoase.<\/p>\n \u201eImplementarea screeningului neonatal permite ini\u021bierea timpurie a unui tratament complex, cu modulatori CFTR, enzime pancreatice \u0219i vitamine liposolubile, \u00eenainte ca boala s\u0103 evolueze spre stadii avansate\u201d, mai spune prof. dr. Ioana Ciuc\u0103.<\/em><\/p>\n Datele arat\u0103 o problem\u0103 serioas\u0103 \u00een Rom\u00e2nia. Registrul na\u021bional pentru fibroza chistic\u0103 are o acoperire incomplet\u0103, cu pu\u021bin peste 50% dintre cazurile estimate \u00eenregistrate oficial. Asta \u00eenseamn\u0103 c\u0103 numero\u0219i copii ar putea fi nediagnostica\u021bi sau urm\u0103ri\u021bi \u00een afara centrelor specializate.<\/p>\n<\/div>\n [analyse_source url=”https:\/\/timisplus.ro\/medicii-din-timisoara-despre-boala-genetica-severa-descoperita-prea-tarziu-la-multi-copii\/”]<\/p>\n","protected":false},"excerpt":{"rendered":" [analyse_image type=”featured” src=”https:\/\/timisplus.ro\/wp-content\/uploads\/2026\/05\/Medicii-din-Timisoara-despre-boala-genetica-severa-descoperita-prea-tarziu-la-multi-copii.jpg”] Fibroza chistic\u0103, una dintre cele mai grave \u0219i frecvente boli genetice diagnosticate \u00een copil\u0103rie, continu\u0103 s\u0103 fie subdiagnosticat\u0103 \u00een Rom\u00e2nia, de\u0219i depistarea imediat dup\u0103 na\u0219tere poate schimba radical evolu\u021bia bolii. Speciali\u0219tii din Timi\u0219oara atrag aten\u021bia c\u0103 interven\u021bia rapid\u0103, \u00eenainte de apari\u021bia simptomelor, poate face diferen\u021ba dintre complica\u021bii severe \u0219i o via\u021b\u0103 mult […]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[89],"tags":[226,195],"class_list":["post-1955006","post","type-post","status-publish","format-standard","hentry","category-romania","tag-crawlmanager","tag-timisplus-ro"],"_links":{"self":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/1955006","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcomments&post=1955006"}],"version-history":[{"count":0,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=\/wp\/v2\/posts\/1955006\/revisions"}],"wp:attachment":[{"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fmedia&parent=1955006"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Fcategories&post=1955006"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/analyse.optim.biz\/index.php?rest_route=%2Fwp%2Fv2%2Ftags&post=1955006"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}