Matenda a Gaucher (omwe amatchulidwa kuti "Odwala") ali ndi matenda osiyanasiyana omwe amachititsa ziwalo zingapo za thupi. Mu njira yofala kwambiri ya Gaucher, anthu ali ndi zizindikiro zochiritsira kwambiri. Mu mitundu ina ya matenda a Gaucher, zizindikiro ndizovuta komanso zovuta kwambiri. Dokotala wanu adzakuthandizani kuphunzira zomwe muyenera kuyembekezera pazochitika zanu.
N'chiyani Chimachititsa Matenda a Gaucher?
Matenda a Gaucher ndi matenda obadwa chifukwa cha vuto la jini lotchedwa GBA . Jini imeneyi ndi mbali ya DNA yanu, zomwe mumalandira kuchokera kwa makolo anu.
GBA jini ndiyoyambitsa kupanga enzyme yotchedwa glucocerebrosidase. Kwa anthu omwe ali ndi matenda a Gaucher, enzyme imeneyi imakhala yoperewera, kapena siigwira ntchito mofananamo.
Kuti mumvetse kufunika kwa mavitaminiwa, ndikofunikira kudziwa za gawo la selo lotchedwa lysosome. Lysosomes alipo monga ziwalo mkati mwa maselo a thupi lanu. Amathandiza kuyeretsa ndi kutaya zinthu zomwe thupi silingalephere. Amathandiza kwambiri pakuphwanya zipangizo zomwe zingathe kuwonjezeka mu thupi. Glucocerebrosidase ndi imodzi mwa mavitamini omwe amathandiza lysosomes kuchita izi.
Kawirikawiri, puloteni imeneyi imathandiza kubwezeretsa mafuta m'thupi lomwe limatchedwa glucocerebroside. Koma mu matenda a Gaucher, glucocerebrosidase sagwira ntchito bwino kwambiri.
Enzyme ikhoza kukhala yosagwira ntchito konse, kapena ikhoza kukhala ndi zochepa zochitapo kanthu. Chifukwa chaichi, glucocerebroside imayamba kumanga mbali zosiyanasiyana za thupi. Izi zimabweretsa zizindikiro za matendawa.
Pamene maselo ena amateteza mthupi amadzaza ndi glucocerebroside yambiri, amatchedwa "Gaucher maselo." Maselo a Gaucherwa amatha kusokoneza maselo omwe amachititsa kuti zikhale zovuta.
Mwachitsanzo, maselo a Gaucher omwe amamangapo mafupa amateteza thupi lanu kuti lisathe kupanga maselo atsopano a magazi kumeneko. Glucocerebroside yolumikizidwa ndi maselo a Gaucher makamaka ali ndi vuto m'matumbo, chiwindi, fupa, ndi ubongo.
Mavuto ndi mitundu ina ya mavitamini m'maselo amtunduwu angayambitse matenda ena. Monga gulu, izi zimatchedwa matenda osungira malungo.
Kodi Matenda a Gaucher Amafanana Motani?
Matenda a Gaucher ndi ovuta kwambiri. Zimakhudza pafupifupi khanda limodzi lobadwa mwa 100,000. Komabe, m'mitundu yina, matenda a Gaucher ndi ofala, monga Ayuda a Ashkenazi. Mwachitsanzo, pafupifupi mmodzi pa ana 450 aliwonse a chibadwachi ali ndi matenda a Gaucher.
Matenda a Gaucher ndi omwe amachititsa kuti matendawa asamangidwe, omwe ali ndi matenda monga Tay-Sachs ndi matenda a Pompe .
Kodi Matenda a Gaucher Amapezeka Bwanji?
Dokotala akhoza kuyamba kukayikira Gaucher matenda pogwiritsa ntchito zizindikiro za munthu ndi zizindikiro zachipatala. Ngati munthu amadziwika kuti ali ndi matenda a Gaucher m'banja lawo, izi zimawonjezera kukayikira kwa matendawa.
Anthu omwe ali ndi matenda a Gaucher kawirikawiri amakhala ndi zovuta zachilendo zomwe zimachitika pa labotale, monga mabala a mafupa. Zotsatirazi zingakhale zothandiza potchula Gaucher.
Pali mitundu yosiyanasiyana ya ma laboratory ndi zojambulazo zomwe dokotala angagwiritse ntchito poyesa udindo wa Gaucher wanu. Mwachitsanzo, dokotala wanu angafune MRI kuti ayang'ane kukula kwa thupi.
Komabe, kuti mudziwe bwinobwino, dokotala wanu adzafunikanso kuyezetsa magazi kapena khungu lachikopa. Chitsanzochi chimagwiritsidwa ntchito poona momwe glucocerebrosidase ikugwira ntchito bwino. Njira ina ndiyeso ya ma jini kapena minofu yogwiritsira ntchito minofu yomwe imagwiritsidwa ntchito pofufuza GNA gene.
Chifukwa ndi matenda osowa, madokotala ambiri sadziwa bwino Gaucher. Chifukwa chaichi, matenda a Gaucher nthawi zina amatenga nthawi.
Izi zikutheka makamaka ngati palibe wina m'banja omwe amadziwika kale kuti ali nawo.
Kodi Mitundu Yosiyanasiyana ya Matenda a Gaucher Ndi Ndani?
Pali mitundu itatu ikuluikulu ya matenda a Gaucher: mtundu wa 1, mtundu 2, ndi mtundu 3. Izi zimasiyana mosiyana ndi zizindikiro zawo komanso mwamphamvu. Mtundu 1 ndi mtundu wofatsa wa Gaucher. Sichimakhudza dongosolo la mitsempha, mosiyana ndi mtundu wachiwiri ndipo imakhala ndi matenda atatu a Gaucher. Mtundu Wachiwiri wa matendawa ndi mtundu waukulu kwambiri.
Ambiri mwa anthu omwe ali ndi matenda a Gaucher ali ndi matenda a mtundu wa 1. Pafupifupi 1 peresenti ya anthu omwe ali ndi Gaucher akuganiza kuti ali ndi matenda a mtundu wa 2. Pafupifupi 5 peresenti ya anthu omwe ali ndi Gaucher ali ndi matenda atatu.
Poganizira za zizindikiro za matenda a Gaucher, nkofunika kukumbukira kuti anthu amavutika kwambiri. Zizindikiro zimakhala pakati pa mitundu itatuyi.
Zizindikiro za Matenda a mtundu wa 1 Wosauka
Zizindikiro za mtundu wa 1 Gaucher matenda amayamba mwaunyamata kapena wamkulu. Mavuto a mafupa angaphatikizepo:
- Kupweteka kwapakhosi kosatha
- Zochitika mwadzidzidzi zopweteka mafupa
- Kugwidwa kwa mafupa
- Osteoporosis
- Arthritis
Mtundu Wowonda 1 umakhudzanso zina mwa ziwalo za mkati. Zingayambitse kutsekula kwa nthenda ndi chiwindi (kutchedwa hepatosplenomegaly). Izi nthawi zambiri zimakhala zosautsa koma zimayambitsa kutalika kwa mimba ndi kumverera kwachidzalo.
Mtundu Wowonjezera 1 umapangitsanso chinachake chotchedwa cytopenia . Izi zikutanthauza kuti anthu omwe ali ndi matenda a Gaucher amakhala ndi maselo ofiira a m'magazi ofanana kwambiri (omwe amachititsa kuti magazi asapitirire magazi ), maselo oyera a magazi, ndi mapulogalamu. Anthu omwe ali ndi Gaucher angakhale ndi zovuta zina zosiyana komanso zolimbana ndi chitetezo cha mthupi. Izi zingapangitse zizindikiro monga:
- Kutopa
- Kutaya magazi mosavuta kapena kuvulaza
- Nosebleeds
- Kuwonjezeka kwa chiopsezo cha matenda
Matenda a gaucher angasokonezenso mapapo, zomwe zimabweretsa mavuto monga:
- Matenda a m'mapapo
- Kupweteka kwambiri kwa magazi
- Kukuda
- Kupuma pang'ono
Kuonjezerapo, mtundu wa 1 Gaucher ukhoza kuchititsa:
- Kuwonjezeka kwa ngozi ya malonda
- Kukula kosauka ndi chitukuko
- Maganizo a maganizo, monga maganizo opsinjika maganizo
- Zovuta za mtima (zosawerengeka)
- Matenda a impso (osasowa)
Anthu ena omwe ali ndi matendawa a mtundu wa 1 Gaucher ali ndi zofooka kwambiri ndipo sangathe kuzindikira zizindikiro. Komabe, madokotala amatha kuona zolakwika zochepa ndi thandizo la ma laboratory ndi mayesero.
Zizindikiro za mtundu wa 2 ndi mitundu itatu ya Matenda a Gaucher?
Pafupifupi machitidwe omwewo a thupi lomwe lakhudzidwa ndi mtundu wa matendawa amatha kuyambitsa mavuto a mtundu wa 2 ndi mtundu wa 3. Komabe, mitundu 2 ndi 3 imakhalanso ndi zizindikiro zina zamaganizo. Zizindikirozi ndizoopsa kwambiri kwa odwala omwe ali ndi matenda a mtundu wachiwiri. Ana awa kawirikawiri amafa asanakwanitse zaka ziwiri. Mwachizolowezi chochepa kwambiri cha matendawa, ana amafa posachedwa kapena atangobadwa kumene. Kwa anthu omwe ali ndi mtundu wa 3 Gaucher, mavutowa sali ovuta, ndipo anthu akhoza kukhala zaka 20, 30, kapena kuposa.
Zizindikiro zokhudzana ndi ubongo zomwe zimapezeka mu mtundu wa 2 ndi mitundu itatu ya matenda ambiri ndi izi:
- Kusayeratu maso kwa diso (strabismus)
- Mavuto ndi zinthu zofufuzira kapena kuyang'ana
- Kugonjetsa
- Kusagwedeza kwa minofu
- Kufooka kwa minofu
- Mavuto ndi kayendetsedwe ka kayendetsedwe ka kayendetsedwe kake
- Mavuto ndi kulankhula ndi kumeza
- Kutaya maganizo
- Dementia
Chigawo cha anthu omwe ali ndi mtundu wa 2 kapena mtundu wa 3 Gaucher ali ndi zizindikiro zina. Zitsanzo zimaphatikizapo kusintha kwa khungu, mavuto ndi cornea, komanso kuwerengera kwa mpweya.
Gaucher ndi Sekondale Matenda
Matenda a gaucher amachititsanso kuti matenda ena aziwopsa. Mwachitsanzo, anthu omwe ali ndi Gaucher ali ndi chiopsezo chachikulu cha matenda a Parkinson . Mankhwala ena amakhalanso ofala kwambiri kwa anthu omwe ali ndi matenda a Gaucher, kuphatikizapo:
- Magazi a khansa
- Myeloma zambiri
- Kansa ya chiwindi
- Khansara ya impso
Anthu omwe ali ndi Gaucher amakhalanso pachiopsezo cha mavuto ena achiwiri, monga splenic infarction (kusowa kwa magazi kumatope, kuchititsa imfa ya minofu ndi ululu waukulu wamimba).
Kuchiza kwa Gaucher Matenda
Muyezo wa chithandizo cha Gaucher matenda ndi mankhwala othandizira kutengera mankhwala (nthawi zina amatchedwa ERT). Chithandizochi chinasintha chithandizo cha Gaucher.
Mu ERT, munthu amalandira mtundu wopangidwa ndi glucocerebrosidase mwa mawonekedwe a kulowetsa m'mimba. Mitundu yosiyanasiyana ya ERT tsopano ikugulitsidwa malonda, koma onse amapereka enzyme yowonjezera. Izi ndi:
- maglucerase (wotchedwa Cerezyme)
- velaglucerase alfa (VPRIV)
- taliglucerase alfa (Elelyso)
Mankhwalawa ndi othandiza kwambiri pochepetsa zizindikiro za mafupa, mavuto a magazi, ndi kukulitsa kwa chiwindi. Komabe, sagwira ntchito bwino pakukonza zizindikiro za m'mimba zomwe zimawoneka mu mtundu wa 2 ndikuyimira matenda atatu a Gaucher.
ERT imathandiza kwambiri kuchepetsa zizindikiro za mtundu wa 1 Gaucher, komanso kuchepetsa zizindikiro zina za mtundu wa 3 Gaucher. Mwamwayi, chifukwa mtundu wa 2 Wocheperako uli ndi mavuto aakulu a ubongo, ERT sichivomerezedwa pa mtundu uwu. Anthu omwe ali ndi mtundu wa 2 Wochepetsera kawirikawiri amalandira mankhwala othandizira okha.
Njira yatsopano yothandizira mtundu wa 1 Gaucher ndi mankhwala othandizira kuchepa. Mankhwalawa amalepheretsa kupanga zinthu zomwe glucocerebrosidase zimaphwanya. Izi ndi:
- miglustat (Zavesca)
- adlustat (Cerdelga)
Miglustat ilipo ngati mwayi kwa anthu omwe sangathe kutenga ERT pazifukwa zina. Eliglustat ndi mankhwala osokoneza bongo omwe ndi mwayi kwa anthu ena omwe ali ndi mtundu wa 1 Woumba. Ndi mankhwala atsopano, koma umboni wina umasonyeza kuti ndiwothandiza ngati mankhwala a ERT.
Mankhwalawa kwa Gaucher angakhale okwera mtengo kwambiri. Anthu ambiri amafunika kugwira ntchito limodzi ndi kampani yawo ya inshuwalansi kuti athe kupeza chithandizo chokwanira cha mankhwala.
Anthu omwe ali ndi matenda a Gaucher ayenera kuchiritsidwa ndi katswiri wodziwa ndi vutoli. Anthu awa amafunika kutsatila ndikutsatila nthawi zonse kuti adziwe momwe matenda awo akumvera ndi mankhwala. Mwachitsanzo, anthu omwe ali ndi Gaucher kawirikawiri amafunikira kuwerengera mafupa kuti awone momwe matendawa akukhudzira mafupa awo.
Anthu omwe satha kulandira ERT kapena mankhwala atsopano ochepetsa kuchepa amafunikira mankhwala owonjezera pa zizindikiro za Gaucher. Mwachitsanzo, anthuwa amafunikira kuikidwa magazi chifukwa cha magazi ambiri.
Kodi Matenda a Gaucher Amachotsedwa Motani?
Matenda a Gaucher ndi ma autosomal ambiri omwe amachititsa majini. Izi zikutanthauza kuti munthu yemwe ali ndi matenda a Gaucher amapeza kabuku ka GBA yokhudzana ndi kholo lililonse. Munthu yemwe ali ndi kope limodzi la gba lokhudzidwa ndi GBA (lochokera kwa kholo limodzi) amanenedwa kwa wonyamula chikhalidwe. Anthu awa ali ndi ntchito yokwanira ya glucocerebrosidase kuti alibe zizindikiro. Anthu oterewa samadziwa kuti ndi odwala matenda pokhapokha wina m'banja lawo atapezeka ndi matendawa. Onyamula katundu ali pachiopsezo chotenga jekeseni ya jini yomwe imakhudzidwa ndi ana awo.
Ngati iwe ndi mnzanuyo muli zonyamulira za Gaucher matenda, muli ndi mwayi wokwana 25 kuti mwana wanu akhale ndi matendawa. Palinso mwayi wa 50 peresenti kuti mwana wanu sadzakhala ndi matenda koma adzakhalanso wothandizira. Pali mwayi wa 25 peresenti kuti mwana wanu sadzakhala ndi matendawa kapena kuti azitenga. Kuyezetsa magazi kumapezeka kumene mwanayo ali pachiopsezo cha Gaucher.
Lankhulani ndi dokotala wanu ngati mukudandaula kuti mukhoza kukhala chonyamulira cha matenda a Gaucher malinga ndi mbiri ya banja lanu. Ngati wina m'banja lanu ali ndi matenda a Gaucher, mukhoza kukhala pachiopsezo. Kuyeza kwa majeremusi kungagwiritsidwe ntchito pofufuza majini anu ndikuwone ngati ndinu chithandizo cha matenda.
Mawu Ochokera
Zingakhale zovuta kuti mudziwe kuti inu kapena wokondedwa wanu muli ndi matenda a Gaucher. Pali zambiri zoti muphunzire zothetsera vutoli, ndipo simukuyenera kuchita zonse mwakamodzi. Mwamwayi, popeza kupezeka kwa ERT, anthu ambiri omwe ali ndi matenda a Gaucher akhoza kukhala ndi moyo wamba.
> Zotsatira:
> Nagral A. Gaucher matenda. Journal of Clinical and Experimental > Hepatology. > 2014; 4 (1): 37-50. > doi >: 10.1016 / j.jceh.2014.02.005.
> Pastores GM, Hughes DA. Matenda a Gaucher. 2000 Jul 27 [Updated 2015 Feb 26]. Mu: Adam MP, Ardinger HH, Pagon RA, et al., Olemba. GeneReviews® [intaneti]. Seattle (WA): University of Washington, Seattle; 1993-2018. Ipezeka kuchokera ku: https://www.ncbi.nlm.nih.gov/books/NBK1269/