Gaucherova choroba

Gaucherova (čítaj gošerova) choroba je vrodené, geneticky, viazané ochorenie, ktoré spôsobuje ukladanie častíc určitého typu tuku v ľudských orgánoch a kostiach.


Vyvoláva množstvo závažných symptómov a v minulosti sa považovala za neliečiteľné ochorenie. U zdravých ľudí enzým glukocerebrozidáza pomáha telu rozkladať určitý typ molekúl tukov (glukocerebrozid). Ľudia s Gaucherovou chorobou nemajú kvôli poškodeniu génu GBA na chromozóme 1q21 dostatok tohto enzýmu, alebo im úplne chýba. Výsledkom je, že sa bunky plnia  nemetabolizovaným glukocerebrozidom – tieto bunky sa nazývajú Gaucherove bunky.

Gaucherove bunky vznikajú v rôznych častiach tela, predovšetkým v pečeni, slezine a kostnej dreni. Môžu sa hromadiť aj v iných častiach tela. V najvzácnejších prípadoch je postihnutý mozog a nervový systém.


Výskyt Gaucherovej choroby

Gaucherova choroba postihuje celosvetovo približne 30 000 ľudí. Je to vrodené ochorenie. Poškodenie génu sa môže dediť aj od rodičov. Existuje viac ako 200 popísaných mutácií génu GBA na chromozóme 1q21.


Typy Gaucherovej choroby

Typ 1 (non-neuropatická)
Najbežnejšia forma, ktorou trpí 1 zo 40 000 až 60 000 ľudí. Tento typ nepostihuje mozog ani nervový systém. Niektorí pacienti s 1. typom Gaucherovej choroby majú len mierne symptómy, zatiaľ čo u iných sa vyvinú závažné symptómy, ktoré môžu ohrozovať ich život.

Typ 2 (akútna neuropatická)
Táto forma Gaucherovej choroby je vzácnejšia (postihuje menej ako 1 človeka zo 100 000), je však oveľa vážnejšia. U detí sa  2. typ Gaucherovej choroby prejaví už v prvom roku života a nesie so sebou väčšie neurologické problémy (aj iné symptómy). Mnohé z týchto detí nežijú dlhšie ako dva roky.

Typ 3 (chronická neuropatická)
Rovnako veľmi vzácna forma (tiež postihuje menej ako 1 človeka zo 100 000). Táto forma vyvoláva neurologické symptómy, ale tie sú oveľa menej závažné a objavujú sa u detí v neskoršom veku ako u tých pri 2. type. Väčšina pacientov sa dožíva dospelosti.


Koho Gaucherova choroba postihuje?

Ochorenie postihuje ľudí bez ohľadu na pohlavie a vek, národnosť i rasu. Symptómy Gaucherovej choroby sa môžu objaviť u postihnutých jedincov v ktoromkoľvek veku, aj keď 2. a 3. typ je najčastejšie diagnostikovaný už v detskom veku. Gaucherova choroba sa môže vyvinúť u ľudí pochádzajúcich z akéhokoľvek etnického alebo rasového prostredia. Gaucherova choroba 1. typu sa najčastejšie objavuje medzi potomkami aškenázskych Židov (východná Európa). V tejto skupine má Gaucherovu chorobu 1 zo 450 ľudí.


Symptómy Gaucherovej choroby

Príznaky a prejavy Gaucherovej choroby sú veľmi rôznorodé. Ich výskyty a intenzita závisí od typu ochorenia i od samotnej mutácie génu. Aj súrodenci, dokonca identické dvojčatá s rovnakým ochorením, môžu mať rôzny stupeň ťažkostí  a nemusia ich oboch rovnako postihovať. Niektorí ľudia s Gaucherom nemajú dokonca žiadne príznaky a prejavy ochorenia.  U väčšiny pacientov  sa však objavujú v rôznych kombináciách výskytu a závažnosti nasledujúce problémy:

  • Kostné deformácie a oslabenia. Gaucherova choroba môže spôsobovať krehkosť kostí s rizikom ťažkých a bolestivých zlomenín. Môže tiež obmedziť a sťažiť krvné zásobenie kostí, kvôli čomu môžu niektoré kosti čiastočne odumrieť
  • Bolesti brucha a tráviace ťažkosti. Pečeň a najmä slezina sú významne  zväčšené. Chorý môže pociťovať silné bolesti brucha a činnosť utláčaných orgánov tráviacej sústavy je obmedzená.
  • Poruchy krvotvorby. Pokles červených krviniek u pacientov spôsobuje ťažkú chudokrvnosť, ktorá sa okrem iného môže prejavovať výraznou únavou. Gaucherova choroba môže zasahovať aj krvné doštičky, preto ľahko dochádza  k podliatinám a masívnemu krvácaniu z nosa.
  • Neurologické ťažkosti. Gaucherova choroba oveľa  zriedkavejšie zasahuje aj mozog. Môže sa to prejaviť abnormálnymi pohybmi očí, stuhnutosťou svalov, problémami s prehĺtaním a epileptickými záchvatmi.


Diagnostika Gaucherovej  choroby

Dnes je choroba diagnostikovateľná pomerne ľahko - pomocou selektívneho skríningu. Sú to vyšetrenia pri diagnostike ochorení, ktoré sa už prejavujú príznakmi a nálezy poukazujú na túto dedičnú metabolickú poruchu. Je to diagnostická, cielená procedúra využívajúca metódu vyšetrenia suchej kvapky krvi.

Gaucherova choroba patrí medzi lyzozómové ochorenia, pri ktorých je kvôli poškodeniu génu nedostatočne aktívny jeden z enzýmov bunkovej organely - lyzozómu. Práve pri takýchto ochoreniach je efektívny selektívny skríning stanovením aktivity určitého lyzozómového enzýmu vyšetrením suchej kvapky krvi. Na stanovenie diagnózy lyzozómového ochorenia je vždy nutné odmerať aktivitu enzýmu, ktorá býva u pacientov s lyzozómovým ochorením vždy výrazne nižšia ako normálna. V dnešnej dobe je možné urobiť takéto meranie aktivity enzýmu jednoduchým, neinvazívnym vyšetrením. Metóda vyšetrenia suchej kvapky krvi je spoľahlivá, rýchla a nenáročná metóda. Využíva sa v mnohých krajinách ako skríningová metóda pre viaceré ochorenia.

Na Slovensku je spustený projekt selektívneho skríningu (teda testovania rizikovej populácie) na Gaucherovu chorobu od začiatku tohto roku. O projekte sú informovaní lekári vo všetkých hematologických ambulanciách, pretože až 86% pacientov s Gaucherovou chorobou navštívilo pri pátraní po diagnóze hematológa. Gaucherova choroba sa totiž najčastejšie skrýva za prejavmi a príznakmi viacerých hematologických malígnych chorôb. Dvoma najvýraznejšími a najčastejšími príznakmi Gaucherovej choroby sú splenomegália (zväčšenie sleziny) a trombocytopénia (úbytok krvných doštičiek). Ak má pacient podobné príznaky, môže sa pri vyšetrení u hematológa informovať  o možnosti skríningového vyšetrenia suchej kvapky krvi na Gaucherovu chorobu. Hematológovia teda majú pri diagnostike Gaucherovej choroby kľúčovú úlohu a práve oni by mohli v spolupráci s pacientmi zlepšiť stav diagnostiky tohto ochorenia na Slovensku.


Možnosti liečby Gaucherovej choroby


V minulosti sa starostlivosť o pacientov a liečba Gaucherovej choroby typu 1 zameriavala iba na zmierňovanie symptómov. Liečba zahŕňala rôzne terapie na tíšenie bolesti, krvné transfúzie, ortopedické zákroky na kostiach a kĺboch a zriedkavo aj splenektómiu (odstránenie sleziny).
Mnohé z týchto terapií v manažmente Gaucherovej choroby typu 1 stále fungujú. Od roku 1990 však existuje liečba vyvinutá špecificky preto toto ochorenie. Existujú tri možnosti  terapie pre Gaucherovu chorobou typu 1: enzýmová substitučná terapia, terapia zameraná na redukciu tvorby glukocerebrozidu) v bunkách a transplantácia kostnej drene.
Tieto liečebné postupy sa tiež používajú pri iných lyzozomálnych chorobách.

Enzýmová substitučná terapia (ERT)
Cieľom ERT je dodať telu potrebné množstvo enzýmu glukocerebrozidáza, alebo nahradiť úplne chýbajúci enzým, ktorý umožní rozštiepiť a spracovať príslušný typ molekúl glukocerebrozidu rovnako ako v zdravom organizme
.  V súčasnej dobe ERT nie je riešením pri centrálneho nervového systému pri typoch 2 a 3 Gaucherovej choroby.

Terapia zameraná na redukciu glukocerebrozidu v bunkách (substrát redukujúca terapia - SRT)
Cieľom SRT je minimalizovať produkciu a hromadenie glukocerebrozidu v bunkách a vznik ďalších Gaucherových buniek.
To znamená, že hoci pacienti naďalej trpia nedostatkom enzýmu, ktorý štiepi glukocerebrozid, táto terapia  bráni jeho hromadeniu vo  vnútri buniek a tým aj progresu choroby a zhoršovaniu príznakov.

Ovplyvňovanie príznakov a trvalá starostlivosť.
Pacienti s Gaucherovou chorobou zvyčajne potrebujú trvalú lekársku starostlivosť viacerých odborníkov, ktorí by mali navzájom spolupracovať.
Špecialista na metabolické choroby by mal sledovať priebeh choroby a  evidovať všetky lekárske rozhodnutia týkajúce sa liečby. Gaucherova choroba postihuje viaceré časti tela. Pacienti preto zvyčajne navštevujú lekárov so špecializáciou v rôznych oblastiach. Možnosti liečby zahŕňajú už spomínané terapie na zmierňovanie bolesti, krvné transfúzie, ortopedický zákrok na kosti a kĺby, a zriedkavo splenektómiu - odstránenie sleziny.

Psychologická starostlivosť

Je dôležité brať do úvahy aj duševný a emocionálny dopad Gaucherovej choroby na pacientov a ich rodiny. Odborné poradenstvo môže pomôcť pacientom lepšie zvládať ťažkosti súvisiace s ich chorobou a zmenami životného štýlu, ktoré si ochorenie vyžaduje.

Život s Gaucherovou chorobou

Chronické ochorenia ako je Gaucherova choroba sú pre pacienta i jeho rodinu trvalou celoživotnou výzvou. Najmä rodičia dieťaťa, ktorému zistili Gaucherovu chorobu sa môžu spočiatku cítiť veľmi bezmocne a neisto vzhľadom na jeho budúcnosť. Po počiatočných negatívnych emóciách prichádzajúcich po určení diagnózy ako sú smútok, hnev a beznádej, sa však väčšina ľudí zasiahnutých touto chorobou snaží so situáciou vyrovnať a prispôsobiť svoj životný štýl, či rodinné spolužitie tomuto ochoreniu. Hoci Gaucherova choroba zasahuje mnohé aspekty života, stále existujú možnosti, ako ju ovplyvniť. Odborníci radia otvorene hovoriť s lekármi, zamestnávateľmi pacientov či učiteľmi detí. Žiadať o okolie o podporu a nebáť sa ju prijímať.

Hoci títo ľudia sú výnimoční svojím zriedkavým genetickým ochorením, nechcú byť s ním sami.

8 komentárov

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    In females, the use of Trenbolone can severely
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    Trenbolone's reputation as a powerhouse in muscle constructing and efficiency enhancement
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    The objective of our exploration is not to advocate for or towards the use of Trenbolone but to navigate via the
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    The liver is one other organ which might be adversely affected
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    As a bodybuilder, I'm all the time looking for new ways to boost my performance and
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    Females can get by with excellent advantages at very low doses of oral Primobolan of just
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    Parabolan comes with unwanted effects that embrace androgenic results, potential impacts on ldl cholesterol, and moderate to severe
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    for the first time because the Sydney Olympics in 2000.
    A third carry, the clear and press, was additionally a
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    with a weight of 267 kg. Athletes are divided into groups of 10 opponents at major and worldwide championships.

    Lifters in group B are considered to be "worse" lifters since they submitted
    lower entries than weightlifters in group A.
    Their aim is to learn the fundamentals of the principle movements, develop the major muscle groups,
    and mitigate their lack of technical proficiency.
    Most weightlifters are frequently striving to lift more and more weight.

    Injury could additionally be caused by power alone,
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    If you’re a weightlifter, and even higher a competitive weightlifter
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    Analysing these three elements offers the coach with an understanding of the athlete’s capability
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    It’s very onerous for us to say for certain about any of this without
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    over many years. The value difference might not sound like much, however it’s enough to
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    The major task is to share my very own practices and developments in weighlifting for
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    Prices range from ~$170 for no-frills multipurpose bars to ~$800 for high-end multipurpose bars.
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    It’s a shame it solely has a ‘construction warranty’ (covered
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    However for the overall high quality and worth level, this barbell gets our prime decide.
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    We admire the achievements of bodybuilders, powerlifters and
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    You should purchase the Ohio Bar in several finishes, together
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    A weightlifting belt of one hundred twenty mm maximum width may be worn to extend
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    of athletes in every weight class. Once I found the best-ranked barbells
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    There are many newbie weightlifting workout plans obtainable, but you have to remember that
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    lack of knowledge between Olympic Weightlifting and its dynamic
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    The host nation's Charles Rigoulot, at age 20, won gold in the 82.5kg (182 lbs) division. He later gained fame behind the
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    a Nazi officer. A complete of thirteen Individuals have gained
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    The United States has not had a gold medalist in weightlifting since
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    Some weightlifters might use knee sleeves to supply joint support
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