Chirwere cheF Fabry chirwere chinokonzerwa nehupenyu chinogona kuzviratidza pachavo nezviratidzo zvakasiyana-siyana. Kuoma kwekupedzisira kunopesana zvichienderana nehutano hwehutano, murwere hwake, mararamiro ehumwe nezvimwe zvinhu.
Chirwere cheF Fabry - chii ichocho?
Kuongorora zvirwere zvinokonzera zvirwere ndiro zita rinowanzo rimwe boka guru rezvirwere zvisingawanzozvarwa, zvinokonzerwa nekuputsa kwebasa re lysosomes. Chero bedzi mune chikwata cheF Fabry. Iyo inobatanidzwa nekuderera kwebasa re α-galactosidase, enzyme ye lysosome, iyo inokonzera kujekesa kweglycosphingolipids. Somugumisiro, mafuta anowedzera zvakanyanyisa mumasero uye anopindira nehutano hwavo hunoshanda. Sekutonga, vanotambura kuguma kwemagetsi kana kusvibiswa masero emisasa yemaropa, itsvo, moyo, pakati pehutano system, cornea.
Chirwere cheF Fabry chimiro chefa
Ichi chirwere chinoonekwa sechimiro chakagadziriswa ne-X-inowanikwa rudzi rwefa. Icho chikonzero, chirwere cheF Fabry chinoparadzirwa chete kune X-chromosomes. Vakadzi vane mbiri, uye naizvozvo anomaly inogona kupiwa nhaka nemwanakomana nemwanasikana. Mikana yemwana ane ruzivo rwechimiro munyaya iyi i 50%. Mune varume, kune imwe chete yeC chromosome, uye kana ikashandurwa, chirwere cheAnderson Fabry chichaonekwa muvanasikana vavo vane mikana ye100%.
Chirwere cheF Fabry - zvinokonzera
Ichi chirwere chechimiro, uye naizvozvo chikonzero chikuru chekuoneka kwayo inoshanduka mutrate muGLA-genes - inobata kukodha kwe enzyme. Maererano nehuwandu nemigumisiro yeongororo dzakawanda dzechiremba, lysosomal Fabry kuunganidza zvirwere inowanikwa muna 95% yematambudziko, asi pane zvisizvo. 5 muzana yevarwere "vakawana" kuongororwa pamatanho ekutanga embryo maitiro. Izvi zvaive zvichienderana nekuchinja kwezvinhu zvisina kuitika.
Chirwere cheF Fabry - zviratidzo
Zviratidzo zvechirwere muzvipenyu zvakasiyana-siyana zvinoratidzika pachavo nenzira yavo pachavo:
- Varume. Mune vamiririri vehutano hwakasimba, Anderson-Fabry chirwere, sekutonga, anotanga kuzviratidza kubva paudiki. Kutanga zviratidzo: kurwadziwa uye kupisa mumagumo. Vamwe varwere vanogunun'una pamusoro pekuonekwa kwechirungu chinopisa, icho kazhinji kacho chinofukidza nzvimbo kubva pamabheji kusvika pamabvi. Sezvo chirwere chinopfuurira zvishoma nezvishoma, zviratidzo zvakakomba - kusuruvara kwepamuviri, kurira munzeve , kugara kuchikurudzira kubatana, kurwisana uye kurwadziwa pamwe chete - kunowanikwa chete nemakore 35 kusvika makumi mana.
- Vakadzi. Mumuviri wevakadzi, chirwere chinoratidza zviratidzo zvakasiyana-siyana zvemakiriniki. Kunyange zvazvo vamwe varwere vasingazivi dambudziko ravo, vamwe vanotambura nekromneal dystrophy, kuneta, moyo wehutano hwehutano, anhidrosis, utachiona hwepamuviri, chirwere chepfungwa, maziso ekuona, neurological disorders.
- Vana. Kunyange zvazvo pane dzimwe nguva zviratidzo zvokutanga zvechirwere zvinoratidzika kare, chirwere cheF Fabry kakawanda chinoenda chisingaoneki uye chinowedzera kusvika pakuziva nguva. Mavambo ekutanga marwadzo uye angiokeratomas, ayo anowanzowanikwa seri kwezeve uye anoregererwa neyanyanzvi. Zvimwe zviratidzo zvechirwere mune vaduku varwere: kushungurudzika nekunyara, dutu, musoro, fivha.
Chirwere cheF Fabry - kuongororwa
Kunyunyuta kwevarwere chete kwekuongororwa hakukwani kune nyanzvi. Kuti uone chirwere cheF Fabry, miedzo inofanira kutorwa. Basa re α-galactosidase rinogona kuonekwa mu plasma, leukocytes, urini, kubvisa mvura. Kusiyanisa kuongorora kunofanirwa kuitirwe kufungidzirwa kuti inofanirwa kutaridzika kwetelonaectasia.
Chirwere cheF Fabry - kurapwa
Kubva kutanga kwema2000, vanachiremba vave vachishanda kushandisa chirongwa chekuita panzvimbo yekurwa nechirwere cheF Fabry. Mishonga inonyanyozivikanwa ndeye Replagal uye Fabrazim. Zvose mishonga inotarisirwa mukati. Kubudirira kwezvinodhaka kunenge kwakangofanana - kunoderedza marwadzo, kusimbisa itsvo uye kudzivirira kukurudzirwa kwechirwere kana chirwere chisingaperi chisingakoshi.
Fabry's syndrome inogonawo kuderedzwa nekurapa kwechiratidzo. Ankonvulsants anobatsira kubvisa marwadzo:
- Diphenine;
- Gabapentin;
- Carbamazepine;
- Pregabalin.
Kana varwere vachikura nezvinetso zvepvo, ivo vanorayirwa ACE inhibitors uye angiotensin II receptor blockers:
- Enap;
- Ramipril;
- Losartan;
- Lysinopril;
- Valsartan;
- Prestarium;
- Irbesartan.
Chirwere cheF Fabry - kliniki mazano
Kurwisa iyi syndrome inonetsa uye inopedza nguva. Migumisiro yakanaka yekurapa iri kumiririra vamwe varwere kwemavhiki mashomanana, asi chirwere chaF Fabry, zviratidzo uye kurapa zvinotsanangurwa pamusoro apa, zvinogona kudziviswa. Kuchengetedza kuberekwa kwomwana ane gene mutated, nyanzvi dzinokurudzira kuita zvirwere zvepinatal, izvo zvinosanganisira mukudzidza basa re α-galactosidase mumamitiotic masero.