Fabry cututtuka cuta ne wanda ke haifar da cutar wanda zai iya nuna kanta da nau'o'in bayyanar cututtuka. Girman wannan karshen ya bambanta dangane da lafiyar lafiyar mai haƙuri, kariya, salon rayuwa da wasu dalilai.
Fabry ta cuta - menene shi?
Lysosomal haɗuwar cututtuka sunaye ne na kowa daya daga cikin magungunan marasa lafiya, wadanda ke haifar da cin zarafin aikin lysosomes. Kawai cikin wannan rukuni shine cutar Fabry. Ana danganta shi da ragewa a cikin aikin α-galactosidase, enzyme lysosome, wanda ke da alhakin kawar da glycosphingolipids. A sakamakon haka, ƙwayoyin da aka tara a cikin kwayar halitta kuma suna tsangwama ga aikin al'ada. A matsayinka na mai mulki, sha wahala na karshe ko ƙwayoyin tsofaffin ƙwayoyin jini, da kodan zuciya, zuciya, tsakiya mai juyayi, cornea.
Fabry ta cuta shi ne irin gado
Wannan cutar ana dauke da ƙayyadaddun kwayar halitta tare da nau'in haɗi na X. Wato, cutar ta Fabry ne kawai aka kawowa akan X-chromosomes. Mata suna da biyu, sabili da haka ana iya haifa ma'anar anomaly da ɗa da 'yar. Halin da yaron yaro da raguwa a cikin wannan yanayin shine 50%. A cikin mutane, akwai x Xromromome guda xaya, kuma idan an canza shi, cutar cutar Anderson Fabry za a gano su a cikin 'ya'yansu da yiwuwar 100%.
Fabry ta cuta - haddasawa
Wannan mummunar cututtuka ne, sabili da haka babban dalilin bayyanar shi ne canje-canje na mutunci a GLA-jinsin - da alhakin sauko da enzyme. Bisa ga kididdiga da sakamakon binciken likita, ilimin kwayoyin Fabry ya kamu da kashi 95 cikin 100, amma akwai wasu. 5% na marasa lafiya "suka aikata" wata ganewar asali a matakin farko na tsarin tayi. Wannan shi ne saboda maye gurbin maye gurbin.
Fabry cuta - bayyanar cututtuka
Alamun cututtukan cututtuka a cikin kwayoyin daban-daban sun bayyana kansu a hanyar kansu:
- Mutanen. A cikin wakilan mawuyacin jima'i, cutar Anderson-Fabry, a matsayin mulkinsa, ta fara bayyana kanta daga yara. Alamun farko: zafi da ƙonawa a cikin extremities. Wasu marasa lafiya suna kokawa game da bayyanar launin fata, wanda a mafi yawancin lokuta ya rufe yankin daga cibiya zuwa gwiwoyi. Yayin da cutar ta ci gaba da hankali, mai tsanani bayyanar cututtuka - rashin tausayi na ciki, kunne a kunnuwa , saurin motsawa don motsa jiki, baya da kuma ciwon haɗin gwiwa - ya zama wanda aka sani kawai daga shekaru 35 zuwa 40.
- Mata. A cikin jikin mace, cutar tana nuna alamun da ke nuna alamun ƙwayoyi. Yayinda wasu marasa lafiya basu san matsalar su ba, wasu suna fama da dystrophy na jiki, gajiya, cututtukan zuciya, anhidrosis, cututtukan gastrointestinal, cututtukan koda, lalacewar ido, cututtukan neurological.
- Yara. Kodayake a mafi yawancin lokuta bayyanar cututtuka na rashin lafiya ta bayyana a farkon, cutar rashin lafiya ta Fabry a cikin yara sau da yawa ba a sani ba kuma yana tasowa zuwa sanannun shekaru. Alamun farko sune ciwo da angiokeratomas, waɗanda ake da su a baya bayan kunnuwan kuma wadanda ba su kula da su ba. Sauran bayyanar cutar a kananan marasa lafiya: tashin hankali tare da zubar da jini, damuwa, ciwon kai, zazzabi.
Fabry cuta - ganewar asali
Sai kawai gwargwadon hankalin masu haƙuri don ganewar asali ba isa ga likita ba. Don ƙayyade cututtukan Fabry, dole ne a dauki gwaje-gwaje. Ayyukan α-galactosidase za a iya gani a plasma, leukocytes, fitsari, hawaye ruwa. Mahimman ganewar asali dole ne a gudanar da la'akari da la'akari da halayen halayen haɓaka.
Fabry cuta - magani
Tun daga farkon shekarun 2000, likitoci sun kasance suna ta hanyar amfani da matakan canzawa a cikin yaki da cutar Fabry. Mafi magungunan magani shine Replagal da Fabrazim. Dukkanin magungunan sunyi amfani da su cikin intravenously. Amfanin magungunan ya kusan kamar haka - suna rage ciwo, suna kare kodan kuma sun hana ci gaban ƙwayar kofin zuciya ko rashin lafiya.
Fabry ta ciwo zai iya shafe ta hanyar bayyanar cututtuka. Ankonvulsants taimaka wajen taimaka zafi:
- Diphenine;
- Gabapentin;
- Carbamazepine;
- Pregabalin.
Idan marasa lafiya ke ci gaba da matsalolin koda, an umarce su da masu hana masu kariya ta ACE da kuma masu satar lambobin angiotensin II:
- Kashe;
- Ramifril;
- Losartan;
- Lysinopril;
- Valsartan;
- Prestarium;
- Irbesartan.
Fabry ta cuta - na asibiti shawarwari
Yin gwagwarmayar wannan ciwo yana da matukar wahala da kuma cinyewa lokaci. Sakamakon sakamako mai kyau yana jira wasu marasa lafiya na makonni da yawa, amma cutar Fabry, alamar cututtuka da magani da aka bayyana a sama, za a iya hana su. Don hana haihuwar jariri tare da ragowar kwayar halitta, masana sunyi shawara don gudanar da bincike-bincike na jiki, wanda ya ƙunshi karatun aikin α-galactosidase a cikin kwayoyin mahaifa.