{"id":933,"date":"2013-11-03T16:21:52","date_gmt":"2013-11-03T14:21:52","guid":{"rendered":"http:\/\/slanedeti.sk\/cms\/pohlad-do-historie-cystickej-fibrozy-2\/201311"},"modified":"2013-12-31T17:31:01","modified_gmt":"2013-12-31T16:31:01","slug":"pohlad-do-historie-cystickej-fibrozy-2","status":"publish","type":"post","link":"https:\/\/slanedeti.sk\/cms\/pohlad-do-historie-cystickej-fibrozy-2\/933","title":{"rendered":"Poh\u013ead do hist\u00f3rie cystickej fibr\u00f3zy"},"content":{"rendered":"

Met\u00f3dy molekul\u00e1rnej genetiky odhaduj\u00fa, \u017ee mut\u00e1cia \u0394<\/span>F508 vznikla pred desa\u0165tis\u00edcami rokov. Prv\u00ed pacienti s CF teda \u017eili u\u017e v d\u00e1vnej minulosti, akon\u00e1hle sa mut\u00e1cie CF g\u00e9nu v \u013eudskej popul\u00e1cii roz\u0161\u00edrili nato\u013eko, \u017ee bolo mo\u017en\u00e9 zdedi\u0165 mutovan\u00fd CF g\u00e9n od oboch rodi\u010dov.<\/p>\n

Je tie\u017e dok\u00e1zan\u00e9, \u017ee tak\u00e9to roz\u0161\u00edrenie nemohlo vznikn\u00fa\u0165 n\u00e1hodne. Jedinci, ktor\u00ed mali iba jednu k\u00f3piu zmutovan\u00e9ho g\u00e9nu museli ma\u0165 ur\u010dit\u00fa evolu\u010dn\u00fa v\u00fdhodu \u2013 lep\u0161ie pre\u017e\u00edvali a mali viac potomkov. Tento jav sa ozna\u010duje ako heterozygotn\u00e1 v\u00fdhoda a je zn\u00e1my aj pri niektor\u00fdch \u010fal\u0161\u00edch ochoreniach genetick\u00e9ho p\u00f4vodu.<\/p>\n

Ak\u00fd bol, alebo je charakter tejto v\u00fdhody je doteraz predmetom vedeckej diskusie. \u010cast\u00fdm d\u00f4vodom heterozygotnej v\u00fdhody je zv\u00fd\u0161en\u00e1 odolnos\u0165 vo\u010di infek\u010dn\u00fdm ochoreniam. V pr\u00edpade CF niektor\u00ed vedci navrhli, \u017ee heterozygoti mohli by\u0165 odolnej\u0161\u00ed vo\u010di cholere, tieto tvrdenia v\u0161ak vych\u00e1dzali sk\u00f4r z teoretick\u00fdch predpokladov a boli spochybnen\u00e9. V ka\u017edom pr\u00edpade sa kv\u00f4li tomuto evolu\u010dn\u00e9mu tlaku CF stala najroz\u0161\u00edrenej\u0161\u00edm z\u00e1va\u017en\u00fdm geneticky podmienen\u00fdm ochoren\u00edm na svete.<\/p>\n

Napriek tomu, \u017ee CF existuje desa\u0165tis\u00edce rokov, z poh\u013eadu medic\u00ednskej vedy vedy je to relat\u00edvne \u201cnov\u00e9\u201c ochorenie. Je zrejm\u00e9, \u017ee ve\u013ek\u00e1 v\u00e4\u010d\u0161ina pacientov zomierala v d\u00e1vnej\u0161ej minulosti kr\u00e1tko po naroden\u00ed \u2013 zrejme v prvom roku \u017eivota. Jednotliv\u00e9 pr\u00edznaky CF boli opisovan\u00e9 postupne a a\u017e nesk\u00f4r bola rozpoznan\u00e1 ich spojitos\u0165 a p\u00f4vod. Ur\u010dit\u00e9 stopy, ktor\u00e9 nazna\u010duj\u00fa znalos\u0165 niektor\u00fdch pr\u00edznakov CF, je mo\u017en\u00e9 n\u00e1js\u0165 v stredoveku,\u00a0 zdrojom s\u00fa \u013eudov\u00e9 poveda\u010dky a dobov\u00e1 (umeleck\u00e1) literat\u00fara.<\/p>\n

Pravdepodobne prvou zmienkou z vedeck\u00e9ho prostredia, ktor\u00e1 zrejme opisovala CF, bola pitva ktor\u00fa uskuto\u010dnil profesor Pieter Pauw v roku 1595 v Holandskom Leidene. V z\u00e1znamoch z pitvy sa okrem in\u00e9ho uv\u00e1dza \u201co 11 ro\u010dnom diev\u010dati, ktor\u00e9 sme pitvali, sa hovor\u00ed, \u017ee bola po\u010darovan\u00e1 \u2026 jej srdce pl\u00e1valo v jedovatej tekutine zelenej farby … pr\u00ed\u010dinou smrti bol zvl\u00e1\u0161tne opuchnut\u00fd pankreas \u2026 \u201c.\u00a0 V\u00fdznamn\u00fd lek\u00e1r, ktor\u00fd vedecky op\u00edsal niektor\u00e9 pr\u00edznaky u pacientov s mek\u00f3niov\u00fdm ileom, ktor\u00ed mohli ma\u0165 CF, bol Karel Rokytansk\u00fd, p\u00f4vodom z Hradca Kr\u00e1lov\u00e9, ktor\u00fd p\u00f4sobil ako profesor na Viedenskej Univerzite. V roku 1905 profesor Karl Landsteiner ako prv\u00fd op\u00edsal mek\u00f3niov\u00fd ileus a v roku 1936 publikoval \u0161vaj\u010diarsky lek\u00e1r Guido Fanconi n\u00e1lezy, ktor\u00e9 sp\u00e1jali anatomick\u00e9 zmeny\u00a0 pankreasu s bronchiekt\u00e1ziami.<\/p>\n

V\u00fdznamn\u00fdm prielomom v poznan\u00ed ochorenia bol \u010dl\u00e1nok Dorothy Hansine Andersen v American Journal of Diseases of Children, publikovan\u00fd v roku 1938. Andersen prv\u00e1 pou\u017eila term\u00edn \u201ccystick\u00e1 fibr\u00f3za pankreasu\u201c, pouk\u00e1zala na spojitos\u0165 ochorenia pankreasu s p\u013e\u00facnym ochoren\u00edm a vyslovila predpoklad, \u017ee pr\u00ed\u010dinou je autozom\u00e1lne reces\u00edvna dedi\u010dn\u00e1 porucha. Andersen tie\u017e za\u010dala so substitu\u010dnou enzymatickou lie\u010dbou. V tomto obdob\u00ed bol uveden\u00fd aj alternat\u00edvny n\u00e1zov \u201cmukoviscid\u00f3za\u201c, ktor\u00e9ho autorom je Dr. Sydney Faber z Bostonu. Pointou nov\u00e9ho n\u00e1zvu pre ochorenie malo by\u0165 zd\u00f4raznenie z\u00e1klad\u00e9ho defektu, ktor\u00fd spo\u010d\u00edval v tvorbe hust\u00e9ho hlienu. Term\u00edn \u201cmukoviscid\u00f3za\u201c je dodnes be\u017ene pou\u017e\u00edvan\u00fd najm\u00e4 v nemeckom a franc\u00fazskom jazyku.<\/p>\n

V klinickej praxi sa v\u0161ak poznatky o CF \u0161\u00edrili pomaly. Viac inform\u00e1cii o CF sa v medic\u00ednskej literat\u00fare za\u010dalo objavova\u0165 a\u017e v 50-tych rokoch. Prv\u00e9 klinick\u00e9 centr\u00e1 kde sa za\u010dala s\u00fastre\u010fova\u0165 starostlivos\u0165 o CF pacientov boli Babies Hospital of New York (kde pracovala aj Dorothy Andersen) a Boston`s Children Hospital. \u010eal\u0161\u00edm v\u00fdznamn\u00fdm objavom spojen\u00fdm s Babies Hospital of New York, bolo zistenie, \u017ee pot CF pacientov m\u00e1 omnoho vy\u0161\u0161iu koncentr\u00e1ciu chloridov, \u010do n\u00e1sledne viedlo k u\u013eah\u010deniu diagnostiky \u2013 v\u00fdvoju potn\u00e9ho CF testu.<\/p>\n

Ako sa zvy\u0161oval po\u010det pacientov a aj z\u00e1ujem lek\u00e1rov o CF, v 60-tych rokoch za\u010dali vznika\u0165 prv\u00e9 organiz\u00e1cie zameran\u00e9 na CF. Prv\u00e1 pacientsk\u00e1 CF organiz\u00e1cia vznikla v roku 1960 v Kanade, Britsk\u00fd Cystic Fibrosis Research Trust bol zalo\u017een\u00fd v roku 1964 a Americk\u00e1 Cystic Fibrosis Foundation 1965. 1969 bolo prv\u00e9 zasadanie European Working Group for Cystic Fibrosis, z ktorej sa nesk\u00f4r vyvinula European Cystic Fibrosis Society (ECFS). V\u00fdznamnou osobnos\u0165ou v tomto obdob\u00ed bol profesor Shwachman, ktor\u00fd publikoval o CF mno\u017estvo odborn\u00fdch \u010dl\u00e1nov a v\u00fdsledkov v\u00fdskumu. Shwachman napr\u00edklad prv\u00fd kr\u00e1t op\u00edsal v r. 1961 u CF pacientov nas\u00e1lne polypy. Shwachman bol tie\u017e prv\u00fd lek\u00e1r, ktor\u00fd sa vo v\u00e4\u010d\u0161om rozsahu venoval lie\u010dbe CF dospel\u00fdch pacientov, z 1700 pacientov ktor\u00fdch lie\u010dil malo 65 vek nad 17 rokov (v roku 1965). Be\u017ene pou\u017e\u00edvan\u00fdm antibiotikom v tom obdob\u00ed bol tetracykl\u00edn a CF pacienti boli vystaven\u00ed jeho \u010dast\u00e9mu aj prevent\u00edvnemu pou\u017e\u00edvaniu. To viedlo k objavu jedn\u00e9ho zo zn\u00e1mych ved\u013eaj\u0161\u00edch \u00fa\u010dinkov tetracykl\u00ednu \u2013 trval\u00e9mu zafarbeniu zubov do \u017elta, \u010do bolo prv\u00fd kr\u00e1t op\u00edsan\u00e9 pr\u00e1ve u CF pacientov. V priebehu 60-tych rokov bolo do klinickej praxe zaveden\u00e9 v\u00fdznamn\u00e9 mukolytikum N-acetylcystein.<\/p>\n

Od roku 1970 sa za\u010dali organizova\u0165 v Eur\u00f3pe medzin\u00e1rodn\u00e9 medic\u00ednske konferencie o CF. \u010castou komplik\u00e1ciou lie\u010dby sa v 70-tych rokoch stala ren\u00e1lna insuficiencia, ke\u010f\u017ee vtedy be\u017ene pou\u017e\u00edvan\u00e9 antibiotik\u00e1 \u2013 aminoglykozidy boli nefrotoxick\u00e9. Taktie\u017e za\u010dalo by\u0165 zrejm\u00e9, \u017ee po\u0161kodenie pankreasu pri CF m\u00f4\u017ee vies\u0165 vo vy\u0161\u0161om veku k diabetu. T\u00e9mou na ktor\u00fa sa s\u00fastredila pozornos\u0165 bola aj v\u00fd\u017eiva pacientov a vz\u0165ah stavu v\u00fd\u017eivy k v\u00fdvoju ochorenia. Celkovo pokra\u010doval trend nastolen\u00fd v 60-tych rokoch, ke\u010f sa st\u00e1le v\u00e4\u010d\u0161\u00ed po\u010det pacientov do\u017e\u00edval dospelosti, aj ke\u010f ich podiel bol zatia\u013e menej ako 50 %. Preh\u013ead a porovnanie situ\u00e1cie prezentovala Margaret Mearns, z Lond\u00fdnskej Queen Elizabeth Hospital for Children, ktor\u00e1 bola v tom obdob\u00ed jednou z ved\u00facich autor\u00edt v problematike CF.<\/p>\n

\"historia_13Survivalcurve\"<\/div>\n
Preh\u013ead veku do\u017eitia CF pacientov publikovan\u00fd v r. 1974, autorka Margaret Mearns
\n<\/em><\/div>\n
<\/div>\n

Do tej doby nastal viditeln\u00fd pokrok v lie\u010dbe, ale ani po\u010das 70-tych rokov nebolo zn\u00e1me \u010do je z\u00e1kladn\u00fdm defektom ktor\u00fd sp\u00f4sobuje ochorenie. Boli zn\u00e1me patologick\u00e9 zmeny v metabolizme elektrolytov (sol\u00ed), ale okrem toho ve\u013emi m\u00e1lo \u010do by objas\u0148ovalo patogen\u00e9zu. V snahe objasni\u0165 t\u00fato z\u00e1hadu sa medic\u00ednsky v\u00fdskum neraz uberal aj nespr\u00e1vnym smerom. \u0160pekulovalo sa \u017ee ochorenie vyvol\u00e1vaj\u00fa tzv. \u201cCF faktory\u201c. Napr\u00edklad niektor\u00ed vedci tvrdili, \u017ee sa im podarilo izolova\u0165 tzv. Liebermanov faktor, ktor\u00fd mal vraj zvy\u0161ova\u0165 produkciu hlienu. \u010eal\u0161ia nespr\u00e1vna mo\u017enos\u0165 o ktorej sa uva\u017eovalo \u017ee mohla vyvol\u00e1va\u0165 ochorenie bola zn\u00ed\u017een\u00e1 tvorba proteolytick\u00fdch enz\u00fdmov. V\u0161etko sa ale zmenilo v 80-tych rokoch, bolo to obdobie ke\u010f veda urobila v poznan\u00ed CF z\u00e1sadn\u00fd pokrok. Tento pokrok ale treba vn\u00edma\u0165 v kontexte in\u00fdch vedeck\u00fdch objavov v bioch\u00e9mii a molekul\u00e1rnej genetike, ktor\u00e9 umo\u017enili aplikova\u0165 nov\u00e9 v\u00fdskumn\u00e9 postupy. \u00davahy o spojitosti vysokej vyskozity hlienu a abnorm\u00e1lnej absorbcie sod\u00edka sa prv\u00fd kr\u00e1t objavili na kongrese o CF v Toronte, 1980. Kr\u00e1tko na to vedci z University of North Carolina dok\u00e1zali \u017ee bunky u CF pacientov maj\u00fa patologicky zmenen\u00fa funkciu transportu chloridov. Na tejto s\u00e9rii objavov sa v\u00fdznamne podielal aj profesor Paul Quinton z University of California, ktor\u00fd bol s\u00e1m CF pacientom. Quinton robil mikroperf\u00fazne experimenty potn\u00fdch \u017eliaz epitelil\u00e1lnych buniek, na ktor\u00e9 pou\u017eil bunky zo svojho predlaktia a experiment\u00e1olne preuk\u00e1zal zn\u00ed\u017een\u00fa priechodnos\u0165 pre chloridov\u00e9 i\u00f3ny, v patofyziologickom kontexte vysvetlil pr\u00ed\u010diny ved\u00face k vysok\u00e9mu obsahu chloridov v pote. Profesor Quinton je pova\u017eovan\u00fd za prv\u00e9ho vedca, ktor\u00fd jasne definoval z\u00e1kladn\u00fd patofyziologock\u00fd defekt pri CF a t\u00fdm objasnil podstatu ochorenia. Tieto poznatky Quinton publikoval v roku 1983 v prest\u00ed\u017enom vedeckom \u010dasopise Nature.<\/p>\n

 <\/p>\n

\"historia_2PaulQuinton\"<\/div>\n
Profesor Paul Quinton, ktor\u00fd s\u00e1m trpel cystickou fibr\u00f3zou, objasnil podstatu ochorenia<\/em><\/div>\n
\u00a0
<\/div><\/div>\n
<\/div>\n

\"historia_lapChiTsui2\"<\/p>\n

\n

Profesor Lap Chi Tsui identifikoval g\u00e9n CFTR, sp\u00f4sobuj\u00faci CF<\/em><\/p>\n

\u00a0

<\/div>\n<\/div>\n

V tomto obdob\u00ed sa za\u010dalo aj s h\u013eadan\u00edm g\u00e9nu, ktor\u00fd je pr\u00ed\u010dinou CF. Ke\u010f\u017ee defektn\u00fd protein nebol zn\u00e1my, postupovalo sa met\u00f3dami tzv. reverznej genetiky s pou\u017eit\u00edm genetick\u00fdch markerov. Na tomto genetickom v\u00fdskume sa podielalo ve\u013ek\u00e9 mno\u017estvo vedcov a taktie\u017e farmaceutick\u00e1 spolo\u010dnos\u0165 Collaborative Research, najv\u00e4\u010d\u0161ie z\u00e1sluhy sa pripisuj\u00fa profesorovi Lap Chi Tsui, ktor\u00fd vtedy pracoval v Hospital for Sick Children v Toronte. Lap Chi Tsui\u00a0 najprv v roku 1985 ur\u010dil, \u017ee CF g\u00e9n sa nach\u00e1dza na siedmom chromoz\u00f3me a v roku 1989 jeho t\u00edm g\u00e9n identifikoval a pomenoval Cystic Fibrosis Transmembrane Conductance Regulator (CFTR).<\/p>\n

Praktick\u00fdm pr\u00ednosom po identifik\u00e1cii CF g\u00e9nu bol v\u00fdvoj genetickej diagnostiky, ktor\u00e1 umo\u017enila jednozna\u010dn\u00e9 potvrdenie ochorenia a u\u013eah\u010dila genetick\u00e9 poradenstvo. Po\u010das 90-tych rokov boli do terapie zaveden\u00e9 nov\u00e9 lieky, ktor\u00e9 sa uk\u00e1zali by\u0165 obrovsk\u00fdm pr\u00ednosom \u2013 rekombinantne produkovan\u00fd Pulmozyme a antibiotik\u00e1 – inhalovate\u013en\u00fd tobramyc\u00edn\u00a0 (TOBI) a azytromyc\u00edn. Taktie\u017e sa na trh dostali kvalitnej\u0161ie pr\u00edpravky substitu\u010dnej pankreatickej lie\u010dby (Kreon). Kr\u00e1tko po objaven\u00ed CFTR sa za\u010dalo s v\u00fdskumom g\u00e9novej terapie \u2013 mo\u017enos\u0165ou nahradenia mutovan\u00e9ho g\u00e9nu funk\u010dnou k\u00f3piou, pri\u010dom sa uva\u017eovalo o retrov\u00edrusoch ako o vektoroch, ktor\u00e9 by do buniek dopravili \u201czdrav\u00fd\u201c g\u00e9n. Do tohto v\u00fdskumu sa zapojilo mno\u017estvo vedcov.\u00a0 Zn\u00e1ma je napr\u00edklad \u0161t\u00fadia ktor\u00fa viedol Mitch Drumm a a podielal sa na nej aj\u00a0 Lap Chi Tsui z roku 1990.<\/p>\n

Okrem retrov\u00edrusov sa uva\u017eovalo aj o pou\u017eit\u00ed lipoz\u00f3mov, \u010do sk\u00famal napr\u00edklad Steve Hyde z University of Oxford, publikoval v 1993 v Nature. V tomto obdob\u00ed sa z vedeck\u00e9ho poh\u013eadu st\u00e1va CF ur\u010dit\u00fdm modelov\u00fdm, a\u017e prominentn\u00fdm genetick\u00fdm ochoren\u00edm skuto\u010dnos\u0165, \u017ee bola pomerne dobre presk\u00faman\u00e1 pri\u0165ahovala pozornos\u0165 \u010fa\u013e\u0161\u00edch vedcov, preto\u017ee predstavovala pr\u00edle\u017eitos\u0165 pre prelomov\u00e9 objavy v molekul\u00e1rnej biol\u00f3gii. V\u00fdskumn\u00e9 \u010dl\u00e1nky o CF sa od tohto obdobia \u010dasto objavuj\u00fa v najprest\u00ed\u017enej\u0161\u00edch vedeck\u00fdch \u010dasopisoch Nature, Cell a Science. Jedn\u00fdm z tak\u00fdch prielomov bolo aj vyvinutie zvieracieho modelu za\u010diatkom 90-tych rokov \u2013 my\u0161i s defektn\u00fdm CF g\u00e9nom, \u010do umo\u017enilo mno\u017estvo \u010fal\u0161\u00edch pokusov. Experiment\u00e1lne v\u00fdsledky skor\u00fdch \u0161t\u00fadii s g\u00e9novou terapiou boli pomerne povzbudiv\u00e9, laborat\u00f3rne a na tkanivov\u00fdch kult\u00farach podarilo do buniek vnies\u0165 spr\u00e1vnu k\u00f3piu g\u00e9nu. To vyvol\u00e1valo zna\u010dn\u00fd optimizmus a presved\u010denie \u017ee v\u00fdvoj lie\u010dby z\u00e1kladn\u00e9ho defektu je bl\u00edzko a n\u00e1strojom bude g\u00e9nov\u00e1 terapia. Tento pr\u00edstup sa v\u0161ak uk\u00e1zal ako problematick\u00fd, tak pri CF ani pri in\u00fdch genetick\u00fdch ochoreniach v s\u00fa\u010dastnosti, viac ako 20 rokov od za\u010diatku v\u00fdvoja, neexistuje klinick\u00fd postup zalo\u017een\u00fd na g\u00e9novej \u00farovni. Vyvin\u00fa\u0165 vektor, ktor\u00fd by nie iba na \u00farovni bunkov\u00fdch kult\u00far, ale skuto\u010dn\u00e9ho organizmu dok\u00e1zal transportova\u0165 spr\u00e1vne k\u00f3pie CFTR do bunkov\u00fdch jadier sa uk\u00e1zalo by\u0165 zatia\u013e neprekonate\u013en\u00fdm probl\u00e9mom. Prv\u00e1 v\u00fdznamn\u00e1 klinick\u00e1 \u0161t\u00fadia s g\u00e9novou terapiou pre CF sa za\u010dala a\u017e v roku 2012. Pokroky v sekvenovan\u00ed DNA po\u010das 90-tych rokov ur\u00fdchlili objavovanie nov\u00fdch mut\u00e1ci\u00ed a to n\u00e1sledne predstavovalo mo\u017enosti pre sk\u00famanie dovtedy nepoznan\u00fdch dimenzi\u00ed spojen\u00fdch s CF ako napr\u00edklad v\u00fdskumu v oblasti popula\u010dnej genetiky. V tomto obdob\u00ed sa dost\u00e1va do popredia probl\u00e9m s mikrobi\u00e1lnymi infekciami Pseudomonas aeruginosa a\u00a0 Burkholderia cepacia. Poznanie, \u017ee infekcie sa m\u00f4\u017eu pren\u00e1\u0161a\u0165 medzi pacientami viedli k postupn\u00e9mu zavedeniu radik\u00e1lnych a dodnes kontroverzn\u00fdch opatren\u00ed, ktor\u00e9 znamenali zamedzenie spolo\u010densk\u00e9ho kontaktu medzi pacientami a \u00faprave ich denn\u00e9ho re\u017eimu. Viacmenej to znamenalo koniec organizovan\u00fdch stretnut\u00ed a spolo\u010dn\u00fdch akci\u00ed pacientov, ako napr\u00edklad rekrea\u010dn\u00fdch pobytov, ktor\u00e9 boli dovtedy be\u017en\u00e9 a ob\u013e\u00faben\u00e9. Jedn\u00fdm z vedcov, ktor\u00ed sa zasl\u00fa\u017eili o pochopenie \u0161\u00edrenia infekci\u00ed bol profesor John LiPuma.<\/p>\n

V 90-tych rokoch sa v\u00fdrazne zlep\u0161ila situ\u00e1cia a vyhliadky pre pacientov aj vo v\u00fdchodnej Eur\u00f3pe. V\u00fdvoj v lie\u010dbe dovtedy vo v\u0161eobecnosti zaost\u00e1val, ke\u010f\u017ee neboli k dispoz\u00edcii modern\u00e9 lieky a do ur\u010ditej miery bol obmedzen\u00fd kontakt so zahrani\u010d\u00edm a v\u00fdmena inform\u00e1ci\u00ed o nov\u00fdch lie\u010debn\u00fdch postupoch. Prv\u00e9 pacientske organiz\u00e1cie tu za\u010dali vznika\u0165 v 80-tych rokoch. Napr\u00edklad Polsk\u00e9 pacientske CF zdru\u017eenie sa sformovalo v r. 1987, ale vo v\u00e4\u010d\u0161ine v\u00fdchodoeur\u00f3pskych kraj\u00edn sa tak stalo a\u017e v 90-tych rokoch. \u010cesk\u00fd Klub nemocn\u00fdch cystickou fibrozou bol zalo\u017een\u00fd v 1992. Prv\u00e1 organiz\u00e1cia CF pacientov v SR bol Klub cystickej fibr\u00f3zy, ktor\u00fd vznikol v 1995 a o 10 rokov nesk\u00f4r vzniklo druh\u00e9 zdru\u017eenie Priatelia slan\u00fdch det\u00ed. Taktie\u017e sa v 90-tych rokoch za\u010dali formova\u0165 CF-centr\u00e1, ktor\u00e9 boli v z\u00e1padn\u00fdch krajin\u00e1ch \u0161tandardom u\u017e o desa\u0165ro\u010dia sk\u00f4r.<\/p>\n

V roku 2002 prv\u00fd kr\u00e1t vy\u0161iel Journal of Cystic Fibrosis, medic\u00ednsky \u010dasopis venovan\u00fd v\u00fdhradne CF medic\u00ednskemu v\u00fdskumu a od roku 2004 sa za\u010dala organizova\u0165 \u010fal\u0161ia konferencia o CF, ktor\u00e9 je zameran\u00e1 na z\u00e1kladn\u00fd v\u00fdskum ochorenia (ECFS Basic Science Conference). Za\u010diatkom nov\u00e9ho mil\u00e9nia boli vidite\u013en\u00e9 \u00faspechy v lie\u010dbe, ve\u013ek\u00e1 \u010das\u0165 pacientov boli u\u017e dospel\u00ed. Vo v\u00e4\u010d\u0161ine kraj\u00edn po roku 2010 po\u010det dospel\u00fdch pacientov prv\u00fd kr\u00e1t prekro\u010dil po\u010det pacientov v detskom veku. Tie\u017e lep\u0161ia diagnostika a zaveden\u00ede plo\u0161n\u00e9ho neonat\u00e1lneho skr\u00edningu viedli k zvy\u0161ovaniu po\u010dtu pacientov. Vyvstala potreba prisp\u00f4sobi\u0165 klinick\u00fa starostlivos\u0165 potreb\u00e1m dospel\u00fdch pacientov, napr\u00edklad vysporiada\u0165 sa s komplik\u00e1ciami ktor\u00e9 s\u00fa be\u017en\u00e9 u CF vo vy\u0161\u0161om veku (diabetes, osteopor\u00f3za, aspergil\u00f3za). Tie\u017e sa lek\u00e1ri u\u017e be\u017enej\u0161ie stret\u00e1vaj\u00fa s tehotenstvom u CF pacientiek. Oproti pokrokom stoja aj nov\u00e9 hrozby, ako napr\u00edklad antibiotick\u00e1 multirezistencia.<\/p>\n

Najv\u00fdznamnej\u0161ou udalos\u0165ou posledn\u00e9ho obdobia je uvedenie prv\u00e9ho lieku, ktor\u00fd ovplyv\u0148uje z\u00e1kladn\u00fd defekt \u2013 ivacaftoru (Kalydeco) v roku 2012. Ivacaftor sa zatia\u013e pou\u017e\u00edva iba na lie\u010dbu nie pr\u00edli\u0161 roz\u0161\u00edrenej mut\u00e1cie G551D, ale spolu s \u010fal\u0161\u00edm liekom \u2013 lumacaftorom prebiehaj\u00fa v s\u00fa\u010dasnosti klinick\u00e9 \u0161t\u00fadie, ktor\u00e9 nazna\u010duj\u00fa \u00fa\u010dinnos\u0165 lieku (alebo kombinovanej terapie) pri najroz\u0161\u00edrenej\u0161ej mut\u00e1cii\u00a0\u0394<\/span>F508. Kalydeco sa v\u0161ak ur\u010dite nestane koncom hist\u00f3rie cystickej fibr\u00f3zy, aj ak by sa podarilo eliminova\u0165 z\u00e1kladn\u00fd defekt, nem\u00f4\u017ee odstr\u00e1ni\u0165 r\u00f4znorod\u00e9 komplik\u00e1cie a chronick\u00e9 po\u0161kodenia u s\u00fa\u010dasn\u00fdch pacientov.<\/p>\n

 <\/p>\n

\"historia_current_trials\"<\/div>\n
Niektor\u00e9 v\u00fdznamn\u00e9 v s\u00fa\u010dasnosti prebiehaj\u00face klinick\u00e9 \u0161t\u00fadie a nov\u00e9 lieky (<\/em>www.cff.org<\/em><\/a>)
\n<\/em><\/div>\n","protected":false},"excerpt":{"rendered":"

Metódy molekulárnej genetiky odhadujú, že mutácia ΔF508 vznikla pred desaťtisícami rokov. Prví pacienti s CF teda žili už v dávnej minulosti, akonáhle sa mutácie CF génu v ľudskej populácii rozšírili natoľko, že bolo možné zdediť mutovaný CF gén od oboch … Continued<\/a><\/p>\n","protected":false},"author":7,"featured_media":979,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"kt_blocks_editor_width":"","footnotes":""},"categories":[253],"tags":[],"class_list":["post-933","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-o-cystickej-fibroze"],"yoast_head":"\nPoh\u013ead do hist\u00f3rie cystickej fibr\u00f3zy - Slan\u00e9 deti<\/title>\n<meta name=\"description\" content=\"Prv\u00ed pacienti s CF \u017eili u\u017e v d\u00e1vnej minulosti, akon\u00e1hle sa mut\u00e1cie CF g\u00e9nu v \u013eudskej popul\u00e1cii roz\u0161\u00edrili nato\u013eko, \u017ee bolo mo\u017en\u00e9 zdedi\u0165 mutovan\u00fd CF g\u00e9n od oboch rodi\u010dov.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/slanedeti.sk\/cms\/pohlad-do-historie-cystickej-fibrozy-2\/933\" \/>\n<meta property=\"og:locale\" content=\"sk_SK\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Poh\u013ead do hist\u00f3rie cystickej fibr\u00f3zy - 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