Matendawa ndi matenda omwe amatha kuwonetsa okha ndi zizindikiro zosiyanasiyana. Kuwopsa kwake kumakhala kosiyana malinga ndi thanzi la wodwalayo, chitetezo chake, moyo wake ndi zina.
Matenda a Fabry - ndi chiyani?
Matenda osokoneza bongo ndiwo dzina lodziwika la gulu limodzi lalikulu la matenda osapatsidwa choloŵa, omwe amayamba chifukwa cha kuphwanya ntchito ya lysosomes. Mu gawo ili ndi matenda a Fabry. Zimakhudzana ndi kuchepa kwa ntchito ya α-galactosidase, enzyme ya lysosome, yomwe imayambitsa matenda a glycosphingolipids. Zotsatira zake, mafuta amafufuzira mopitirira mu maselo ndikusokoneza ntchito yawo yachizolowezi. Monga lamulo, amavutika kumapeto kwa maselo kapena mitsempha yambiri ya mitsempha ya magazi, impso, mtima, pakatikati wamanjenje, cornea.
Matenda a Fabry ndi mtundu wa cholowa
Matendawa amawoneka kuti ali ndi chikhalidwe chokhala ndi X. Izi zikutanthauza kuti, matenda a Fabry amafalitsidwa pokhapokha pa X-chromosomes. Azimayi ali ndi awiri, choncho amatha kulandira mwana ndi mwana wake. Mpata wa mwana yemwe ali ndi kupotuka kwa chibadwa mu nkhaniyi ndi 50%. Mwa amuna, palinso khungu limodzi lokha la X chromosome, ndipo ngati lasinthidwa, matenda a Anderson Fabry adzapezeka mwa ana awo aakazi ali ndi mwayi wokwanira 100%.
Matenda a Fabry - amachititsa
Izi ndi matenda a chibadwa, ndipo chifukwa chachikulu chomwe chikuwonekera ndi kusintha kwa ma GLA-majini - omwe amachititsa kuti ma enczyme asinthe. Malingana ndi chiwerengero ndi zotsatira za maphunziro ambiri azachipatala, matenda a lysosomal Fabry omwe amawunikira amakhala obadwa mwa 95%, koma pali zosiyana. Odwala asanu (5%) "adalandira" matendawa pamayambiriro oyambirira a mimba. Izi zinali chifukwa cha kusintha kwasintha.
Matenda opanga - zizindikiro
Zizindikiro za matendawa mu zamoyo zosiyanasiyana zimadziwonetsera okha mwa njira zawo:
- Amuna. Kwa oimira za kugonana kolimba, Anderson-Fabry matenda, monga lamulo, amayamba kudziwonetsera okha kuyambira ubwana. Zizindikiro zoyamba: kupweteka ndi kuyaka pamapeto. Odwala ena amadandaula za maonekedwe a khungu lofiira, lomwe nthaŵi zambiri limaphatikizapo deralo kuchokera pamphuno mpaka kumaondo. Pamene matendawa akupita pang'onopang'ono, zizindikiro zoopsa - kupweteka kwa m'mimba, kulira m'makutu , kulakalaka kuthamangira matumbo, kupweteka kumbuyo ndi kuphatikizana - kumakhala zaka 35 mpaka 40 zokha.
- Akazi. Mu thupi lachikazi, matendawa amasonyeza mawonedwe osiyanasiyana a chipatala. Ngakhale odwala ena sakudziŵa vuto lawo, ena amavutika ndi corneal dystrophy, kutopa, mtima wamtima, anhidrosis, matenda a m'mimba, matenda a impso, kuwonongeka kwa maso, matenda a ubongo.
- Ana. Ngakhale kawirikawiri zizindikiro zoyamba za matenda zikuwonekera msanga, matenda a Fabry kwa ana nthawi zambiri amawoneka osadziwika ndipo amapita ku nthawi yosadziwa. Zizindikiro zoyambirira ndi zopweteka ndi angiokeratomas, zomwe nthawi zambiri zimakhala kumbuyo kwa makutu ndipo zimanyalanyazidwa ndi akatswiri. Zisonyezero zina za matendawa kwa odwala ang'onoang'ono: kunyowa ndi kusanza, chizungulire, kupweteka mutu, malungo.
Matenda opanga - matenda
Kudandaula kwa wodwala yekhayo kuti apeze matenda sikokwanira kwa katswiri. Pofuna kudziwa matenda a Fabry, mayesero ayenera kutengedwa. Ntchito ya α-galactosidase ikhoza kuwonedwa mu plasma, leukocyte, mkodzo, kutaya madzi. Kusiyanitsa mitundu yosiyanasiyana kumayenera kuchitidwa kumaganizira zachulukirachulukitso cha telangaectasia.
Matenda opanga - mankhwala
Kuchokera kumayambiriro kwa zaka za m'ma 2000, madokotala akhala akugwiritsira ntchito mankhwala opatsirana pogwiritsa ntchito mankhwala a Fabry. Mankhwala otchuka kwambiri ndi Replagal ndi Fabrazim. Mankhwala onsewa amaperekedwa mwachangu. Kugwiritsa ntchito mankhwalawa kumakhala kofanana - kumachepetsanso ululu, kumatsitsimutsa impso ndikuletsa chitukuko cha nthenda kapena mtima wosakhutira.
Matenda a Fabry akhoza kuchepetsedwa ndi chithandizo chamankhwala. Ankonvulsants amathandiza kuthetsa ululu:
- Diphenine;
- Gabapentin;
- Carbamazepine;
- Pregabalin.
Ngati odwala ali ndi vuto la impso, amalembedwa ACE inhibitors ndi angiotensin II receptor blockers:
- Chita;
- Ramipril;
- Losartan;
- Lysinopril;
- Valsartan;
- Prestarium;
- Irbesartan.
Matenda a Fabry - malingaliro achipatala
Kulimbana ndi matendawa ndizovuta komanso nthawi yambiri. Zotsatira zabwino za mankhwala zikudikirira odwala kwa milungu ingapo, koma matenda a Fabry, zizindikiro ndi chithandizo chomwe chafotokozedwa pamwambapa, angapewe. Pofuna kupewa kubadwa kwa mwana yemwe ali ndi gene mutated, akatswiri amapanga kuchuluka kwa matenda opatsirana, omwe amaphunzira ntchito ya α-galactosidase m'maselo a amniotic.