575
HLAVNÍ42522001005185134178232252
TÉMA69222001003981147194
Modulátorová425330010061100139176192226253291316354390425
léčba8663300100155082120155
cystické10373300100306797124141171205239
fibrózy1293330010017357397136166204
22819622001003673115
|351220010018
VNITŘNÍ4268040010746106127172220280301
LÉKAŘSTVÍ748804001074185130188236280325378400
/11948040010731
Vnitř1270804001074693112140166
Lék.1456804001074083122140
2025;71(4):228-2321615804001074487129173186227268286328349364408452495523562606647
/23078040010731
www.casopisvnitrnilekarstvi.cz442680400107651332012142542953293774274464795215705896176436927117307748128548809159449871007102310631101
https://doi.org/10.36290/vnl.2025.04242544001003865941331631802022236484400100418310274944001001554791171398904400100287389124167204247293316355396414432470516552587605649691729
Modulátorová42598002751983244525806467688579821075120113231442
léčba1944980027561179281410531
cystické2552980027596226327416482583710825
fibrózy3454980027586154283376502605734
Libor425137001375686152216258
Fila705137001375886117175
Pneumologická4251520013359118173233324385411471533558607657711
klinika1159152001335279104164189240294
2.1476152001335679
LF15791520013351104
UK17061520013372131
a18601520013353
FN19361520013354124
Motol,20831520013389149185244270292
Praha2398152001335993146207259
Cystická425203001215899140174198243290340
fibróza784203001212956113147202244294
(CF)1098203001212884132162
je1279203001212475
vrozené1374203001214781136179229285336
onemocnění17302030012154111161245301347403454509533
vyvolané2283203001214799151205230278334385
patogenními26872030012157106139194251302358413437521545
variantami3251203001214897130154202258291340424448
genu37182030012156107163218
CFTR.3955203001215510115120441602030012121
Projevuje4200203001215385140165215264320344395
se4614203001214091
především4724203001215790140198249297337360444
chronickým51872030012145101133189245268314425217001214798183
sinopulmonálním628217001214063120176234290314398454511560584640664748
onemocněním,13962170012155112163248304350406457514538622644
postižením20602170012157114154188212256307363387472
trávicího2552217001213366115163188233257315371
ústrojí2943217001215596130164219244268
s32312170012140
poruchou32902170012157114148204250306362418
stavu3728217001214075124172229
výživy,39762170012148100146170219271288
vysokou42842170012148100140196244299355
koncentrací46592170012147102158204254311344377427473496
chloridů51752170012145101125181215240297353
v4252310012148
potu5012310012157114148203
a7322310012149
obstruktivní8082310012155113154189222279326363387437494518
azoospermií.1354231001214892148205245302354388473497521543
Kromě1925231001215489145229281
tradiční2234231001213366116173198243299323
symptomatické2585231001214089174232266321406455488512558606655
léčby3268231001212475122179227
je3522231001212576
v36262310012148
posledních37022310012157114154178230288344368414470
letech4200231001212375109159206262
dostupná44902310012156113153188244301358407
modulátorová49252310012183140198253278327360415449505553603
terapie,425245001213383117167224249300321
která771245001214784134168218
cílí101424500121446895119
na11582450012155104
chybějící12872450012145101147206258283307352376
nebo16882450012156107165222
nefunkční19352450012155107138195251299343399423
CFTR23832450012158107160215
protein.2623245001215791147180231255311334
U29822450012164
nosičů30712450012156112152176222277
alespoň3373245001214873124165222279336
jedné3734245001212475134190241
mutace40002450012184139174223269319
F508del4344245001214998150203261312337
je4706245001212476
indikována4807245001212379137161209264312361417466
léčba5298245001212475122179229
kombinací4252590012147101184241266321369415438
elexakaftor,882259001215075125173221269318348384439472489
tezakaftor1390259001213383126176224273303339394427
a18362590012148
ivakaftor,1904259001212371120167217246283338371388
z23112590012142
ostatních2373259001215494128177210266289334390
mutací27822590012183138172221266289
jsou3091259001212463119174
pro3285259001215690144
monoterapii34492590012182138194249283332366414471496519
ivakaftorem3988259001212371120167217246283338371421505
vhodní45122590012148104159217272296
nosiči48272590012155111150174219242
tzv.5089259001213278129146
gating52542590012155104137160216272
mutací4252730012183139173223269293
(např.745273001212882131189222239
G551D).10112730012164116165213275302322
Modulátorová13602730012180137195251275324358413447502550600
léčba1987273001212375121179228
prokázala2242273001215791147195245290341365414
v26832730012148
klinických275827300121477397153177223270322367423
studiích3208273001213974130188212236282338
zlepšení3573273001214367119177217268325349
plicních3949273001215782106152208232277333
funkcí,4309273001213087143191235259281
stavu4617273001213974124172228
výživy48722730012148100146171220271
a51702730012149
kvality5246273001214799148173197231282
života425287001214367117171205255
a7032870012148
zásadně775287001214293133183241297349
zlepšila1147287001214367119177217241265314
prognózu1484287001215791147205261317360416
nemocných19232870012156107192248294351397442498
CF.24442870012158107120
Hlavní2587287001216590139186243268
nevýhodou28782870012155107155207264320378434491
modulátorové33922870012183140198253278327360415449505553603
léčby4018287001212475122179227
je4268287001212476
její4367287001212475100124
vysoká4515287001214899140196244295
cena.4833287001214595151200222
Klíčová425304001235885111155211261312
slova:758304001234268124174225248
cystická1027304001214594134168191236282331
fibróza,1380304001212955111144199241291312
gen17133040012156106162
CFTR,1896304001215610115020220993040012121
modulátory21413040012183138196250274322354408441492
CFTR26543040012158106157212
proteinu.2887304001215790144177226250305360381
CFTR4253290015061126195270
Modulator73332900150108175244312346411459525574
Therapy13463290015066134197246310378446
of18303290015066114
cystic19823290015053122176223258311
fibrosis2331329001504783152201268323357413
Cystic425349001215899139173196241
fibrosis686349001212955112145199238261300
(CF)1006349001212985132161
is1187349001212463
a12703490012148
hereditary13383490012156106139189246269302351384434
disease1792349001215680119169217256307
caused2119349001214593148187238295
by24343490012157103
pathogenic25573490012157106139194249306356412435479
variants3057349001214896129152200255288328
of3405349001215584
the3509349001213489139
CFTR36683490012156101150202
gene.38913490012156106162212232
It4144349001212356
is4221349001212362
mainly43033490012184132155210233281
manifested46043490012183131187210239289329363412469
by50933490012157104
chronic52173490012145100132187242266310
sinopulmonary425363001214062118173230285309392447503551583633
disease,1077363001215780119170218257307327
digestive1423363001215680135186225259282330380
tract1822363001213365114159194
involvement2035363001212378125179203251300384434490522
with2576363001217498131186
nutritional27813630012155110143176199232255310366414437
status3237363001214074123155210249
disorders,3505363001215780119174207263314347387408
high3932363001215679135190
sweat41413630012139114163211244
chloride44043630012145100123178211235291341
concentration4764363001214599155200249304337369418450473528584
and53673630012148104160
obstructive4253770012155112151185218273318354377425474
azoospermia.922377001214892146202241298349382465489536558
In1503377001212479
addition16053770012148105161185218241296352
to1979377001213488
traditional2090377001213365114170194227250305361409432
symptomatic2545377001214088172229262316399447480503548
treatment,3116377001213365115163196279330385418439
modulator35783770012183138195250274322354408441
therapy4042377001213388139172220277323
has43883770012156104143
become45543770012157107153207291341
available4918377001214895143166190238294318369
in5310377001212378
recent5411377001213383425391001214594149182
years,627391001214796144177217238
which8863910012173129152197252
targets1158391001213382114170220254294
the1473391001213388138
missing16323910012183106145184207262319
or1971391001215588
dysfunctional20793910012156104143174229285330365388443499547570
CFTR26693910012158106158212
protein.2901391001215790145178227250306327
For32483910012149102135
carriers3404391001214493126159182232265306
of3730391001215584
at3834391001214881
least3935391001212374122161195
one41503910012155111161
F508del4331391001214997148200257307331
mutation,46823910012184139172221253276331387408
treatment5110391001213366115163196279330385418
with425405001217497130186
a6324050012148
combination701405001214599182239263318366398421476532
of1254405001215584
elexacaftor,1360405001215074124171220264313342378433465481
tezacaftor1863405001213382125175220269298334388421
and23054050012148104160
ivacaftor2487405001212371120165213242279333366
is2874405001212362
indicated;2958405001212378135158203251284333390410
among33894050012148131187242298
other3709405001215587142193226
mutations,39564050012183138171220253276331386425447
carriers4424405001214593126159182233265306
of4751405001215584
so-called4856405001214095129176225248271321379
gating52564050012156104136159215271
mutations4254190012183138171219252274329385423
(e.g.86641900121297595150171
G551D)10554190012164115163209270296
are1369419001214880130
suitable1516419001214094117150198255279329
for1863419001212983116
ivacaftor1997419001212371120164213242278331364
monotherapy.23794190012183138193248281336386419467523569586
Modulator29824190012181136193247271318351404437
therapy3437419001213388138171219275321
has37764190012156103142
been39364190012157107158214
shown4167419001214095150222278
in4463419001212378
clinical455941900121446790145168212261284
trials486141900121336589136160198
to5077419001213387
improve51824190012123106162195249296345
lung425433001212478133189
function,632433001212984140184219242297353373
nutritional10234330012155110143175199232254309365413436
status,1477433001213973121154208247268
and17634330012148103160
quality19404330012157111159182205238288
of2245433001215584
life,234743300121234675125145
and25104330012148103159
leads2687433001212474122178217
to2922433001213387
a30274330012148
significantly3092433001214063118173196226252296345400432455502
better36124330012157107141176225258
prognosis3887433001215790144201256311350372411
for4316433001212984117
patients44504330012157106138161211266299339
with4807433001217397130184
CF.50094330012158106117
The51444330012150106156
main53184330012183131154209
disadvantage425447001215680119168224273321376409458514564
of1010447001215584
modulator11154470012184139196251274322355409442
therapy1578447001213388139171220277323
is1922447001212463
its200644700121235697
high2124447001215679135190
cost.2335447001214599138172193
Key4254640012358108158
words:6044640012374130166224266290
CFTR9154640012155101150202
gene,11364640012156106162212232
CFTR13894640012158106158212
modulators,16224640012184139196251274322355409442482503
cystic2146464001214595134168191236
fibrosis.2403464001213056112145200239262301322
Úvod4255070013874137198262
Cystická565524001075084117145163201238279
fibróza85952400107234290116162196237
(CF)1111524001072472111135
je1262524001071861
onemocnění1338524001074794137209256296343385432449
vyvolané1803524001074081124170189228275318
patogenními2136524001074989115160209252298345362434452
variantami2603524001074080105124163209235275425538001077392
(mutacemi)533538001072495142170211252294367386409
genu958538001074993141188
pro1163538001074976123
transmembránový130253800107285496144176249293367416443484532580620663
regulátor1982538001072669118166184225252298325
vodivosti2323538001074188138156197244278306325
(CFTR).2665538001072373113158204227241
Jde425552001073182126
o5785520010749
nejčastější653552001074994113154196230259302321354373
dědičné1053552001074994144163204253298
život137855200107365697145173
zkracující1578552001073776104147188236256274315334
onemocnění1939552001074898142217266308357402450469
v24355520010741
bělošských2503552001075096115164198232270313354402
populacích.425566001074997146193212251291309348395411
V8515660010746
ČR912566001075195
aktuálně1023566001074077107154194212259302
(březen134056600107247399141177219266
2025)1622566001074385126169191
žije182956600107365472115
7281960566001074385127
nemocných2103566001074790163210250298335374421
s25405660010733
klasickou258856600107385898130148187224270317
formou42558000107247198172221269
CF,71358000107519299
z8315800010736
nichž886580001074866107155191
je1096580001072063
4031178580001074490131
(55,41328580001072466107121165
%)1512580001076687
v16185800010741
dospělém1678580001074997131180224244288361
věku2058580001074184122170
(www.cfregistr.cz).2247580001072487155222235276302330372423441474503530542582621645658
Každoročně425594001074587124173221248295336384428
je874594001071963
u9595940010747
nás1028594001074889122
diagnostikováno1171594001074968108157205254287316335373420460502550598
20–251791594001074487135174218
nových2031594001074896137180220268
případů232059400107497695145186236283
CF,262459400107529399
těžší2744594001072871108143161
formy42560800107247198172211
onemocnění655608001074897141214263304352396444463
obvykle1137608001074898138182220241285
v14416080010741
časném1501608001074081114162206280
dětství,1800608001074993121155184228247263
lehčí2082608001071963111152170
pak2271608001075091129
v24206080010740
adolescenci2479608001074191139158202236277319367408427
či425622001074059
dospělosti.505622001074997130180224243292325354373389
Díky915622001075877117160
novorozeneckému1096622001074897137184211259294337385429470508551625673
screeningu1790622001073374100143188236255303352399
(v2211622001072362
ČR2295622001075196
od2412622001074898
října253162200107264565113154
2009)2706622001074487133177199
lze42563600107195699
zachytit543636001073679119167206237256284
i8476360010718
dosud885636001074997131178227
bezpříznakové1132636001075095132182209228265313354392439480523
jedince.1675636001071963113131179220262277
Produktem565650001074673121173222261294338413
genu1007650001074995145194
CFTR1229650001074989132178
je1436650001071965
CFTR1529650001075295141189
protein,1747650001075078127156200220269286
což2061650001074189126
je2216650001071965
aniontový2309650001074291111161211239287329374
kanál2711650001073983132175195
v4256640010741
apikální489664001074191111150193213261281
membráně7936640010773119193244272314363408
buněk1224664001075099148193232
žláz147966400107365698136
se1638664001073378
zevní1739664001073780122172191
sekrecí.1953664001073479118147191233252269
U22456640010756
CF2324664001075294
nejsou2440664001074994113147196245
potní27086640010750100128178197
žlázy425678001073758101140185
schopny639678001073577128178231282322
adekvátně990678001074294140180226270299349396
absorbovat1415678001074193129180208261312355398427
NaCl,18716780010759102156176193
v20936780010742
ostatních2164678001074984115159188238258301351
orgánech2544678001074978128171221268311361
dochází425692001074998140189231269289
k7396920010738
tvorbě801692001072873121149200245
abnormálně1071692001074191141190218293335355404449
vazkého1544692001074183121161205254303
hlenu.1872692001074868113162210227
V21246920010746
dýchacím2194692001074990131180221263282357
ústrojí2575692001074882112140188208227
se2827692001073378
kromě3047510001073765112185228
mukostázy32925100010773120157204237266307344386
uplatňují3695510001074796115156182230277296314
poruchy4026510001074998124172212260298
antiinfekční4341510001074087114133151199222265303341389407
obrany4765510001074797124165212250
a50325100010740
prozánětlivé5089510001074976122157199247290318337355396438
a30475240010741
prooxidační3112524001074977125175214234284326367416435
vlivy.357152400107416281123167180
Výsledkem3775524001074587122142187238277320395
je4194524001071964
chronická4282524001074089116164213233274313356
bakteriální4662524001075092131163206233254295315363383
infekce506952400107186792136175215259
(především53515240010724751031473047538001074994135170189264
S.3331538001073958
aureus3406538001074592118156202233
a36595380010741
P.3721538001074355
aeruginosa),37935380010745841111572032232703163473924184538001072438
neutrofilní4243538001074893142171198246271292312360380
zánět4643538001073679128173202
a48655380010741
rozvoj4926538001072775111156204224
chronické5171538001074089116164213233274313357
rinosinusitidy304755200107264694142176194242290323342370389438479
a35435520010741
bronchiektázií.3601552001074976124172213261280324362393434472491510526
Plicní414555200107446382122170189
postižení4352552001074998132161180217260308327
je4696552001071963
zodpovědné4777552001073683133182231272315365413457
na5252552001074788
855358552001074386
%54625520010765
případů304756600107507899150193244292
mortality33685660010774124153185228248268297341
u37385660010748
CF.3814566001075295103
V39455660010747
trávicím402056600107285699141161203223298
ústrojí4347566001074882112141189209229
se4605566001073479
kromě4713566001073868116192238
vazkého4979566001074184123163207257307
hlenu5315566001074868114164213
uplatňuje3047580001074898119160188237286305350
i34245800010718
porucha34695800010750100128177218267309
sekrece3804580001073479118147191233276
bikarbonátů.4107580001075070108151179230280329371399448463
Postižení4597580001074592127157176214257306326
pankreatu4949580001075092141180209253294322371
vede5347580001074084135180
k30475940010738
fibróze310359400107234494121169205248
a33695940010741
cystické3428594001074083117147166207245289
přestavbě,3735594001074977120154184226266317362377
dále4130594001074990110154
k43025940010738
diabetu4358594001074968109159204233281
vázanému4657594001074183121163212257331379
na5054594001074889
CF5161594001075192
(CFRD).5271594001072474116160220242256
Pankreatická3047608001074689140181211257299329350392433478
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má40376080010776119
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