Matenda Ochokera Kwawo Ndi Zizindikiro Zowonongeka ndi Zovuta
Matenda a Gaucher ndi matenda a chibadwa omwe mtundu wa mafuta, wotchedwa lipid, umayamba kudziunjikira mu maselo ndi ziwalo za thupi. Matendawa ali ndi matenda a magazi, kuphwanyidwa kosavuta, mafupa, zilonda zam'mimba, ndi kukulitsa kwa chiwindi ndi nthata.
Matenda a gaucher amatchulidwa ngati matenda ovuta kwambiri a autosomal disorder , kutanthauza kuti ndi chikhalidwe chochokera kwa makolo ake.
Zimayambitsidwa ndi kusintha komwe kumatchedwa GBA gene yomwe imakhala yosiyana kwambiri ndi 380. Malinga ndi mtundu wa kusintha kwa chibadwidwe chomwe anthu adzalandire, anthu akhoza kupanga chimodzi mwa mitundu yosiyanasiyana ya matendawa.
Pa mitundu itatu yofala kwambiri (mtundu 1, mtundu 2, ndi mtundu wa 3), zizindikiro zimatha kukhala zofatsa komanso zowonongeka. Kuyembekeza kwa moyo kungasokonezedwe, makamaka kwa anthu omwe ali ndi mitundu yosiyanasiyana ya matendawa.
Matenda a Gaucher amachititsa munthu mmodzi mwa onse 40,000 obereka ku United States, malinga ndi ziwerengero zochokera ku Rockville, ku National Gaucher Foundation. Pafupifupi mmodzi mwa anthu 100 amakhulupirira kuti ndi wothandizira kusintha kwa GBA. Pakati pa Ayuda a Ashkenazi, chiwerengerochi chili pafupi ndi chimodzi mwa khumi ndi zisanu ndi chimodzi.
Mmene Matendawa Amayendera Matenda
GNA jini imapereka malangizo opanga mtundu wa enzyme yotchedwa beta-glucocerebrosidase. Awa ndi ma enzyme omwe amachititsa kuthetsa mtundu wa mankhwala omwe amadziwika kuti glucocerebroside.
Kwa anthu omwe ali ndi Gaucher matenda, beta-glucocerebrosidase sagwira ntchito moyenera. Popanda njira yothetsera lipids, minofu imayambira mumaselo, kuyambitsa kutupa ndi kusokoneza ntchito zamagetsi.
Kuwonjezereka kwa lipids m'maselo a macrophage (omwe ali ndi udindo wochotsa chitayira) kumawapangitsa kukhala ndi mapepala ophatikizidwa, "mapepala ophwanyika" omwe maathologist amatcha "Gaucher cells".
Makhalidwe a matendawa amatha kusiyana ndi mtundu wa selo wogwira ntchito:
- Kuwonjezeka kwa lipids m'mafupa, chiwindi, mapulopa, mapapo, ndi ziwalo zina zingathe kuchepetsa kuchepa kwa maselo ofiira ndi oyera ( pancytopenia ), chiwindi chotupa ndi nthendayi, ndi matenda opatsirana m'mapapo.
- Maselo a Gaucher omwe amasonkhanitsa m'mafupa amatha kupangitsa kupukuta kwa thupi, fupa, ndi kutsika kwa mafupa ( osteopenia ).
- Kusokonezeka kwa kusungunuka kwa maselo m'magulu a epidermal a khungu kungabweretse kusintha kowoneka khungu ndi kapangidwe ka khungu.
- Kuwonjezereka kwa lipid m'kati ndi machitidwe amanjenje amatha kusokoneza mitsempha yambiri ya mitsempha (myelin) komanso maselo a mitsempha okha.
Mitundu ya Matenda a Gaucher
Matenda a Gaucher amagawidwa mwachidule kukhala amodzi mwa mitundu itatu. Chifukwa cha kusiyana kwakukulu kwa kusintha kwa GBA, kuopsa kwake ndi momwe matendawa amatha kumasiyana kwambiri pakati pa mtundu uliwonse. Mitundu ikufotokozedwa monga:
- Matenda a mtundu wa Gaucher (omwe amadziwikanso kuti gaucher osagwira mtima) ndiwo mtundu wamba, wowerengera 95 peresenti ya milandu yonse. Zizindikiro zimawoneka ngati wamkulu ndipo zimakhudza kwambiri chiwindi, nthata, ndi fupa. Ubongo ndi dongosolo la manjenje sizikuwonetseratu.
- Gaucher matenda a mtundu 2 (omwe amadziwikanso kuti ndi acaule infantile neuropathic gaucher matenda) amakhudza mwana mmodzi mwa ana 100,000 ali ndi zizindikiro kawirikawiri kuyambira m'miyezi isanu ndi umodzi yoyamba kubadwa. Zimakhudza machitidwe ambiri a ziwalo, kuphatikizapo mitsempha ya mitsempha, ndipo nthawi zambiri imayambitsa imfa asanakwanitse zaka ziwiri. Chifukwa odwalawo ali aang'ono kwambiri, sakhala ndi moyo wautali wokwanira kuti akhale ndi zovuta zowonongeka.
- Gaucher matenda a mtundu 3 (omwe amadziŵika kuti matenda aakulu a gaucher matenda) amapezeka mwa mmodzi mwa ana 100,000 obadwa ndipo akhoza kukula nthawi iliyonse kuyambira ubwana mpaka wamkulu. Amaonedwa kuti ndi mtundu wolimba, wopita pang'onopang'ono wa mtundu 2. Anthu omwe ali ndi mtundu wachitatu amakhala ndi zaka zambiri kapena akukula.
Zizindikiro
Zizindikiro za matenda a Gaucher zimasiyana koma nthawi zonse zimakhala ndi gawo la magazi, chiwindi, kapena chiwindi. Zina mwa zizindikiro zambiri:
- Kutopa chifukwa cha kuchepa kwa magazi m'thupi
- Kulira kosavuta chifukwa cha chiwerengero chochepa cha platelet
- Mimba yosokonezeka chifukwa cha kutupa kwa chiwindi ndi nthata
- Mtundu wa khungu la bulauni
- Kowuma, khungu lofewa ( ichthyosis )
- Kupweteka kwa mafupa, kupweteka pamodzi, kupweteka kwa mafupa, ndi kufooketsa mafupa
Zizindikiro zokhudzana ndi ubongo zimapezeka kawiri kawiri ndi mtundu wa 3 koma zikhoza kuchitika mu mtundu wa 1. Zingaphatikizepo:
- Mtundu Woyamba: Kusamvetsetsana kolakwika ndi kununkhiza
- Mtundu 2: kugwidwa , kuthamangitsidwa , apnea , ndi kutaya mtima
- Mtundu 3: minofu yothyola minofu, kupweteka, kutengeka maganizo , komanso kusuntha maso
Anthu omwe ali ndi matenda a Gaucher amawoneka kuti ali ndi chiopsezo chachikulu cha myeloma (khansara ya maselo a plasma mu fupa la mafupa) ndi matenda a Parkinson (omwe amakhalanso ogwirizana ndi GBA gene mutations).
Zowopsa Kwambiri
Mofanana ndi vuto lililonse la autosomal discessive, Gaucher amapezeka pamene makolo awiri omwe alibe matendawa amathandiza kuti ana awo azikhala ndi matenda enaake . Makolo amaonedwa ngati "othandizira" chifukwa ali ndi jini limodzi lopambana (lachibadwa) ndi jini imodzi (mutated) ya jini. Ndipokhapokha ngati munthu ali ndi majini awiri omwe amawoneka kuti Gaucher akhoza kuchitika.
Ngati makolo onse ali ndi zonyamulira, chiopsezo cha mwana wawo chotenga Gaucher ndi ichi:
- 25 peresenti mwayi wobadwa ndi majini awiri omwe amakhudzidwa (atakhudzidwa)
- 50 peresenti mwayi wa umodzi waukulu ndi umodzi wambiri gene (chonyamulira)
- 25 peresenti mwayi wokhala ndi majini akuluakulu (osakhudzidwa)
Genetics imatha kufotokozera za chiopsezo cha munthu chokhala ndi mwana ndi matenda a Gaucher. Izi ndizowona makamaka kwa Ayuda a Ashkenazi omwe chiopsezo cha Gaucher ndi choposa 100 kuposa chiwerengero cha anthu ambiri.
Matenda oterewa amadziwika kwambiri ndi otchedwa "anthu omwe anayambitsa" omwe matenda obadwa nawo angachokere kwa kholo lofanana. Chifukwa cha kuchepa kwa mitundu yosiyanasiyana ya mafupa m'magulu awa, kusintha kwasintha kwafala kwambiri kwa ana, zomwe zimapangitsa kuti pakhale kuchuluka kwa matenda a autosomal.
Kusinthika kwa Ayuda aku Ashkenazi kumagwirizanitsidwa ndi mtundu wa 2 ndipo ukhoza kuwonedwa kuyambira kale mpaka zaka za m'ma Middle Ages.
Mofananamo, mtundu wa 3 ukuwonekera makamaka kwa anthu ochokera ku Norrbotten m'chigawo cha Sweden ndipo unachokera kwa munthu mmodzi yemwe anafika kumpoto kwa Sweden m'zaka za m'ma 1500 kapena asanakhalepo.
Kudziwa
Anthu omwe akudandaula kuti ali ndi matenda a Gaucher adzayesedwa kuti ayese msinkhu wa beta-glucocerebrosidase m'magazi awo. Maseŵera oposa 15 peresenti ya chizoloŵezi, pamodzi ndi zizindikiro za kuchipatala, nthawi zambiri zimatsimikizira kuti wapezeka. Ngati pali kukayikira kulikonse, mayesero achibadwa angagwiritsidwe ntchito pozindikira GBA kusintha.
Dokotala amayesanso kuchita mayeso kuti adziwe kuwonongeka kwa mafupa, nthenda, kapena chiwindi. Izi zingaphatikizepo mayesero a chiwindi , mphamvu ya X ray yotchedwa absorptiometry (DEXA) yokuyesa kuyeza kuchuluka kwa mafupa, kapena kujambulidwa kwa maginito (MRI) kuti ione momwe chiwindi, spleen, kapena fupa lamatenda likuyendera.
Njira Zothandizira
Ngati munthu ali ndi matenda a Gaucher 1 kapena mtundu 3, chithandizochi chiphatikizapo mankhwala othandizira odwala matenda a enzyme (ERT). Izi ziphatikizapo kubweretsa beta-glucocerebrosidase pogwiritsa ntchito kupopera.
Bungwe la US Food and Drug Administration (FDA) lavomereza mankhwala atatu awa kuti agwiritse ntchito:
- Cerezyme (maglucerase)
- Elelyso (taliglucerase)
- Vpriv (velaglucerase)
Ngakhale kuti ERT imathandiza kuchepetsa kukula kwa chiwindi ndi nthata, kuchepetsa zofooka, ndi kubwezeretsa zizindikiro zina za matendawa, ndizovuta kwambiri (kuposa $ 200,000 pachaka). Komanso sichikhoza kuthana ndi vuto la ubongo wa ubongo , kutanthauza kuti sikutheka kuthetsa mavuto aakulu a ubongo.
Komanso, chifukwa Gaucher ndi matenda omwe sali osowa, palibe amene amatsimikiza kuti ndiyeso yeniyeni yomwe ikufunika kuti zithetse vutoli popanda kupitirira matendawa.
Pambuyo pa ERT, mankhwala awiri ovomerezeka amavomerezedwa ndi a FDA kuti alepheretse kupanga mankhwala a anthu omwe ali ndi mtundu wa 1 Gaucher matenda:
- Zavesca (miglustat)
- Cerdelga (adlustat)
Chomvetsa chisoni n'chakuti palibe mankhwala ochizira a mtundu wa Gaucher 2. Kuyesera kungakhale kofunika pa kuyang'anira zizindikiro za matendawa ndipo kawirikawiri kumakhudza kugwiritsa ntchito mankhwala opha tizilombo, mankhwala osokoneza bongo, kuthandizira kupuma, ndi kudyetsa ma tubes .
Genetic Screening
Chifukwa chakuti matenda a Gaucher ndi matenda opatsirana kwambiri omwe amachokera kwa makolo kupita kwa ana, akuluakulu ambiri samadziwa kuti ndizo zonyamulira chifukwa alibe matendawo.
Ngati muli m'gulu la anthu omwe ali ndi chiopsezo chachikulu kapena muli ndi mbiri ya banja la Gaucher matenda, mungafunike kuganizira zojambula zowunikira kuti muzindikire momwe mulili. Komabe, mayeserowa amatha kudziwa kusintha kwa GBA kasanu ndi kamodzi kokha ndipo akhoza kukhala ndi malire pa zomwe zingakuuzeni za chiopsezo chenichenicho.
Amuna omwe ali ndi chidziwitso chodziwikiratu amatha kusankha kukhala ndi mayesero omwe amachitidwa panthawi yoyembekezera pochotsa maselo a fetus ndi amniocentesis kapena chorionic villus screening (CVS). Ngati kudandaula kwa Gaucher kukudziwikiratu, mungawone bwinobwino kuti muwone bwinobwino mtunduwo.
Ngati zotsatira zabwino zibwezedwa, ndizofunikira kulankhula ndi dokotala wapadera kuti mumvetsetse zomwe matendawa amatanthauza komanso zomwe mungasankhe. Palibe zosankha zabwino kapena zolakwika, zokhazokha zomwe inu ndi mnzanuyo muli nazo zokhudzana ndi chinsinsi ndi ulemu.
> Zotsatira:
> Campbell, T. ndi Choy, R. "Matenda a Gaucher ndi synucleinopathies: kukonza ubale." Orphanet J Rare Dis. 2012: 7:12. DOI: 10.1186 / 1750-1172-7-12.
> Nagral, A. "Matenda a Gaucher." J Clin Exp Hepatol . 2014; 4 (1): 37 -50. DOI: 10.1016 / j.jceh.2014.02.005.
> National Gaucher Foundation. "Kodi Matenda a Gaucher Ndi Chiyani?" Rockville, Maryland.
> Ma Institutes of Health. "Matenda a Gaucher." Genet Home Ref. Bethesda, Maryland; zasinthidwa pa January 30, 2018.