Ingabe uzwa ukuvuvukala emzimbeni wakho? Ake sifunde ngalesi simo esisha esibizwa ngokuthi i-VEXAS Syndrome.

Ingabe ngezinye izikhathi uzizwa sengathi kukhona okungajwayelekile okuvela emzimbeni wakho, njengokuvuvukala? Ingabe ngezinye izikhathi uba nomkhuhlane, ubuhlungu bamalunga, izinkinga zesikhumba, njll.? Nakuba lokhu kungase kubonakale kungahlobene, mhlawumbe imbangela yakho konke lokhu kungaba yisimo esifanayo esingavamile. Esinye isimo esinjalo sibizwa ngokuthi i-VEXAS Syndrome . Ake sixoxe kancane ngalokhu namuhla, ngoba kubaluleke kakhulu ukuqaphela lokhu.

Iyini i-VEXAS Syndrome? Kalula nje...

Kalula nje, i-VEXAS Syndrome iyisimo esingavamile kakhulu sokuzivikela komzimba . Manje ungase uzibuze ukuthi siyini lesi simo sokuzivikela komzimba. Cabanga nje, umzimba wethu unesimiso sokuzivikela komzimba. Kufana nebutho elivikela izwe lethu. Umsebenzi walesi simiso ukusivikela ngokulwa namagciwane nezifo ezivela ngaphandle. Kodwa-ke, ngezinye izikhathi lo mvikeli, isimiso sokuzivikela komzimba, uqala ngephutha ukuhlasela amangqamuzana aphilile nezicubu zomzimba wethu . Kunjengokungathi asikwazi ukutshela ukuthi obani ongowethu nokuthi obani oyisitha. Yilokho esikubiza ngokuthi isimo sokuzivikela komzimba.

Yilokho okwenzekayo kumuntu one-VEXAS Syndrome. Amasosha omzimba ahlasela izingxenye ezahlukene zomzimba, okubangela ukuvuvukala nokuvuvukala . Kufana nokuthi kuhlala kukhona umlilo omncane oqhubeka ngaphakathi emzimbeni.

I-VEXAS Syndrome ingathinta izingxenye zomzimba ezilandelayo:

• Egazini lakho
• Ngomnkantsha wamathambo
• Emithanjeni yegazi
• Kwesikhumba sakho
• Ukuqina kwesikhumba (ikakhulukazi ezindlebeni nasemakhaleni)
• Kumalunga
• Emaphashini
• Kwamehlo
• Amagama ama -testicles emadodeni

Cabanga ukuthi lokhu kungadala inkinga engakanani uma izindawo eziningi kangaka zithinteka ngesikhathi esisodwa. Imbangela yalesi sifo ukuguquka kwezakhi zofuzo . Uma sikhuluma iqiniso, ushintsho ku-gene ebizwa ngokuthi i-UBA1 gene . Le gene ye-UBA1 ikhiqiza i-enzyme evuselela i-E1 ubiquitin, noma i-enzyme ye-E1 ngamafuphi. Umsebenzi wale enzyme ukuhlanza imikhiqizo engcolile efana namaprotheni angadingekile aqoqana ngaphakathi kwamaseli ethu futhi asize ukulungisa umonakalo kumaseli. Kufana nomuntu okhipha udoti endlini yethu. Kodwa uma une-VEXAS Syndrome, i-enzyme ye-E1 ekhiqizwa yi-gene ye-UBA1 ayisebenzi kahle. Kwenzekani-ke? Udoti uyaqoqana ngaphakathi kwamaseli.

Into ebaluleke kakhulu ukuthi uma lesi simo singelashwa kahle, ngezinye izikhathi singasongela ukuphila.Ngakho-ke, kubalulekile ukufuna iseluleko sezokwelapha uma unezimpawu. Odokotela bazokunikeza ukwelashwa okudingekayo ukulawula izimpawu zakho.

Lisho ukuthini igama elithi VEXAS?

Igama elithi VEXAS liyinhlanganisela yezinhlamvu zokuqala zamagama amaningana asiza ekuboneni lesi sifo. Ake sibone ukuthi ziyini:

• Ama-Vacuole angu-V: Lawa ayizikhala eziyindilinga, ezingenalutho ezakha ngaphakathi kwamangqamuzana angajwayelekile. Lawa ma-vacuole angabonakala kumaseli omnkantsha wabantu abane-VEXAS Syndrome.
• I-enzyme E - E1: Njengoba sishilo ngaphambili, lena yi-enzyme E1 engasebenzi kahle ngenxa yokuguquka kwezakhi zofuzo ze-UBA1.
• X - X-linked: Uyazi ukuthi ubulili bethu bunqunywa ama-chromosome amabili. Abesifazane banama-chromosome angu-XX kanti amadoda anama-chromosome angu-XY. I-gene ye-UBA1 eguquliwe ebangela i-VEXAS Syndrome itholakala ku-chromosome engu-X.
• A - Ukuvuvukala Okuzenzakalelayo: Leli igama lezokwelapha lokuvuvukala okwenzeka lapho amasosha omzimba ehlasela umzimba wawo.
• S - I-Somatic: Ukuguquka kwezakhi zofuzo okubangela i-VEXAS Syndrome uhlobo lokuguquka kwezakhi zofuzo olubizwa ngokuthi "i-somatic." Lokhu kusho ukuthi kwenzeka ngokungahleliwe futhi akuzuzwa kubazali. Lokhu kusho ukuthi akudingeki ukhathazeke ngokuthi izingane zakho zikuthola ngoba nje wena unayo.

Uyaqonda ukuthi igama elithi VEXAS lavela kanjani? Incwadi ngayinye ilandisa ulwazi olubalulekile ngalesi sifo.

I-VEXAS Syndrome ivame kangakanani?

Empeleni lesi yisimo esingavamile kakhulu . Ochwepheshe bathi ngisho nasezweni elifana neMelika, lesi sifo sithinta cishe umuntu oyedwa kwabayi-13,000. Nakuba izibalo zaseSri Lanka zingaqondile, kusobala ukuthi lesi yisimo esingavamile kakhulu.

Ziyini izimpawu ze-VEXAS Syndrome?

Uphawu oluyinhloko lwalesi sifo ukuvuvukala . Ngakho-ke, ezinye izimpawu zincike ekutheni ukuvuvukala kwenzeka kuphi emzimbeni. Bheka ukuthi unanoma yiziphi zalezi zimpawu:

• Ngivame ukuba nomkhuhlane.
• Amazinga aphansi omoya-mpilo egazini (i-hypoxemia) .
• Ukuqubuka kwesikhumba okuhlukahlukene kanye ne-eczema.
• Ukuvuvukala komzimba.
• Ubuhlungu bamalunga.
• Ukukhwehlela.
• Ubunzima bokuphefumula (ukuphelelwa umoya).
• Ukubomvu kwamehlo.
• Ikhanda elibuhlungu.
• Ukuvuvukala kwamasende kwabesilisa (orchitis).

Uma olunye noma ngaphezulu lwalezi zimpawu luqhubeka, kuwukuhlakanipha ukufuna iseluleko sezokwelapha kunokuzilahla njengesifo esivamile.

Kungani kwenzeka i-VEXAS Syndrome? Iyini imbangela?

Njengoba sesike sakhuluma ngakho ngaphambili, imbangela enkulu yalokhu ukuguqulwa kwezakhi zofuzo ku-UBA1 gene . Ukuguqulwa kwezakhi zofuzo kuyizinguquko ochungechungeni lwethu lwe-DNA . Lapho amaseli ehlukana, okungukuthi, lapho amaseli enza amakhophi awo, ngezinye izikhathi ingxenye yalolu chungechunge lwe-DNA ingaba sendaweni engafanele, ingaphelele, noma yonakale. Yilapho kuvela khona izimpawu zezimo zezakhi zofuzo.

Okwenzekayo kumuntu one-VEXAS Syndrome ukuthi i-gene ye-UBA1 ayisebenzi kahle, futhi i-enzyme ye-E1 ayikhiqizwa ngendlela efanele. Ngokuvamile, i-enzyme ye-E1 ifana "nesihlanzi" ngaphakathi kwamaseli ethu. Umsebenzi wayo ukuhlanza imfucuza, njengeprotheni endala neyonakele, ngaphakathi kwamaseli. Kodwa uma une-VEXAS Syndrome, leli qembu "elihlanzayo" alisebenzi kahle. Kwenzekani-ke? Amaprotheni nemfucuza eyonakele kuyaqoqana ngaphakathi kwamaseli. Lapho isimiso sethu somzimba sokuzivikela sibona le mfucuza eqongelelekile, sicabanga ukuthi kukhona ukutheleleka noma usongo lapho. Kodwa njengoba empeleni kungekho ukutheleleka lapho, isimiso somzimba sokuzivikela sihlasela izicubu ezinempilo. Yilokho okubangela ukuvuvukala. Cabanga ngakho njengeloli likadoti elingahlanzi indlu kanye nemfucuza eqongelelekayo.

Ubani osengozini enkulu yokuthola i-VEXAS Syndrome?

Ucwaningo luthole ukuthi amadoda anamathuba amaningi okuthola lesi sifo. Sivame kakhulu nakubantu abangaphezu kweminyaka engu-50. Lokhu kusho ukuthi izinguquko zofuzo ezihambisana nokukhula zingadlala indima.

Yiziphi izinkinga ezingaba khona ze-VEXAS Syndrome?

Uma ukuvuvukala okubangelwa yi-VEXAS Syndrome kuthinta umongo wakho wamathambo , kungaholela esimweni esibizwa ngokuthi ukwehluleka komongo wamathambo. Lokhu kungaba yingozi empilweni.

Kuye ngokuthi ukuvuvukala kwenzeka kuphi, umuntu one-VEXAS Syndrome cishe uzoba nezinye izinkinga zempilo, njenge:

• I-Leukemia ( uhlobo lomdlavuza wegazi)
• I-Myocarditis (ukuvuvukala kwemisipha yenhliziyo)
• I-anemia
• I-Dermatitis ( ukuvuvukala kwesikhumba)
• I-Chondritis (ukuvuvukala kwe-cartilage)
• I-Vasculitis (ukuvuvukala kwemithambo yegazi)
• I-Arthritis ( ukuvuvukala kwamalunga)
• Ukuqhekeka kwegazi emthanjeni ojulile (i-Deep Vein Thrombosis - DVT)
• I-Colitis (ukuvuvukala kwamathumbu amakhulu)

Bheka ukuthi lokhu kungadala izimo ezibucayi kangakanani. Yingakho ukutholakala kusenesikhathi kanye nokwelashwa kubalulekile.

Odokotela bayithola kanjani i-VEXAS Syndrome?

Udokotela uzohlola i-VEXAS Syndrome ngokukuhlola ngokomzimba nokwenza ukuhlolwa kofuzo . Uzobuyekeza ngokucophelela izimpawu zakho bese ekubuza ukuthi usunesikhathi esingakanani unalezi zimpawu.

Kodwa-ke, okuwukuphela kwendlela yokwazi ngokuqinisekile ukuthi une-VEXAS Syndrome ukuhlolwa kwezakhi zofuzo. Kulokhu, udokotela wakho uzothatha isampula yegazi lakho, isikhumba, izinwele, noma ezinye izicubu bese ezithumela elabhorethri. Ochwepheshe lapho bazohlola i-DNA yakho ukuze babone ukuthi unayo yini i-mutation ku-UBA1 gene ebangela i-VEXAS Syndrome.

Yiziphi izindlela zokwelapha i-VEXAS Syndrome?

Izindlela zokwelapha eziyinhloko zamanje zalesi simo yilezi:

• Ama-corticosteroids anciphisa ukuvuvukala.
• Ama-immunosuppressants anciphisa isimiso sakho somzimba sokuzivikela.
• Uma umongo wakho wethambo ubonisa izimpawu zokwehluleka, ungase udinge ukufakelwa umongo wethambo . Ukufakelwa umongo wethambo kunganciphisa nobunzima bezinye izimo zokuzivikela komzimba.

Ungathunyelwa futhi kudokotela wamathambo , udokotela ogxile ezifweni zamalunga kanye nezifo ezihlasela amasosha omzimba, ongakunikeza isiqondiso esinembile kakhulu sokwelapha lezi zimo.

Ingabe i-VEXAS Syndrome ingavinjelwa?

Ngeshwa, okwamanje ayikho indlela yokuvimbela lesi sifo . Ukuguquka kwezakhi zofuzo ze-UBA1 kwenzeka ngokungahleliwe, ngaphandle kwesizathu esaziwayo. Ngakho-ke asikwazi ukukuvimba kusenesikhathi.

Ingakanani isikhathi sokuphila somuntu one-VEXAS Syndrome?

Lena inkinga ebucayi kakhulu. Iqiniso liwukuthi, wonke umuntu uhlukile, futhi indlela i-VEXAS Syndrome ethinta ngayo umzimba wakho ingahluka kuye ngomuntu nomuntu. Kodwa-ke, njengoba sishilo ngaphambili, lesi simo singasongela impilo uma singelashwa. Ngakho-ke khuluma ngokukhululekile nodokotela wakho ngalokho ongakulindela nokuthi yiziphi izindlela zokwelapha ezikulungele kangcono. Angakusiza ukuphatha izimpawu zakho futhi akuthumele kochwepheshe bezempilo yengqondo nakwezinye izinsizakalo zokusekela uma kudingeka.

Kufanele ngimbone nini udokotela?

Uma uhlangabezana nanoma yiziphi izimpawu ze-VEXAS Syndrome, njengomkhuhlane, ukuqubuka kwesikhumba, noma ubunzima bokuphefumula, qiniseka ukuthi ubona udokotela. Ngenxa yokuthi i-VEXAS Syndrome ibangela izimpawu ezahlukahlukene ezingase zibonakale zingahlobene, ngezinye izikhathi kungaba nzima ukuzixilonga ekuqaleni. Kodwa-ke, lalela umzimba wakho, futhi uma unezimpawu ongaziqondi noma ezingahlobene nezinye izimo zakho zempilo, khuluma nodokotela ngazo.

Uma usuvele utholakale une-VEXAS Syndrome, futhi uzizwa sengathi uqala izimpawu ezintsha noma izimpawu zakho ezikhona ziya ziba zimbi kakhulu, bona udokotela ngokushesha.

Isimo Esiphuthumayo! Uma unomkhuhlane ongaphezu kuka-103°F (39.5°C) isikhathi esingaphezu kwamahora amabili naphezu kokwelashwa ekhaya, iya ekamelweni lezimo eziphuthumayo. Uma unenkinga yokuphefumula, iya esibhedlela ngokushesha noma ushayele u-911 (noma inombolo yakho yezimo eziphuthumayo yendawo).

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Uma uya kudokotela, lungela ukubuza imibuzo efana nale:

• Ingabe ngine-VEXAS Syndrome, noma ingabe esinye isimo?
• Ingabe kuzodingeka ngihlolwe izakhi zofuzo?
• Hlobo luni lokwelashwa engiludingayo?
• Yiziphi izimpawu noma izinguquko okufanele ngiziqaphele?
• Ingabe i-VEXAS Syndrome iyingozi empilweni yami?

Le mibuzo izoba yindawo enhle yokuqala ingxoxo nodokotela wakho.

Ekugcineni, ekugcineni, khumbula lokhu (Umyalezo Wokuya Ekhaya)

I-VEXAS Syndrome iyisifo esingavamile sokuzivikela komzimba esibangelwa ukuguquka kwezakhi zofuzo ezithile. Ingabangela ukuvuvukala emzimbeni wakho wonke futhi ingaba yingozi empilweni uma ingelashwa. Kodwa ungalilahli ithemba . Udokotela wakho angakusiza ukuthola ukwelashwa okufanele ukulawula izimpawu zakho.

Uma uhlangabezana nanoma yiziphi izimpawu ze-VEXAS Syndrome, bona udokotela. Zithembe, lalela umzimba wakho. Ungazinaki izimpawu ezifana nomkhuhlane, ukuqubuka, nobunzima bokuphefumula. Ngokutholakala kwasekuqaleni kanye nokwelashwa okufanele, ungaphila impilo enempilo.

I- VEXAS Syndrome, Izifo Ezivikela Amasosha Omzimba, Ukuvuvukala, Ukuguqulwa Kwezakhi Zofuzo, I-UBA1 Gene, Umongo Wethambo