Ngaba unesifo sokudumba emzimbeni wakho? Masifunde ngale meko intsha ebizwa ngokuba yi-VEXAS Syndrome.

Ngaba ngamanye amaxesha uziva ngathi kukho into engaqhelekanga ephuma emzimbeni wakho, njengokudumba? Ngaba ngamanye amaxesha unomkhuhlane, iintlungu zamalungu, iingxaki zolusu, njl.njl.? Nangona ezi zinto zisenokubonakala zinganxulumananga, mhlawumbi unobangela wazo zonke ezi zinto unokuba yimeko efanayo engaqhelekanga. Enye yezi meko ibizwa ngokuba yiVEXAS Syndrome . Makhe sithethe kancinci ngale nto namhlanje, kuba kubaluleke kakhulu ukuyiqonda le nto.

Yintoni i-VEXAS Syndrome? Ngamafutshane...

Ngamafutshane, i-VEXAS Syndrome yimeko engaqhelekanga kakhulu ye-autoimmune . Ngoku usenokuba uzibuza ukuba yintoni le meko ye-autoimmune. Khawuthelekelele, umzimba wethu unenkqubo yokuzikhusela. Ifana nomkhosi okhusela ilizwe lethu. Umsebenzi wale nkqubo kukusikhusela ngokulwa neentsholongwane nezifo ezivela ngaphandle. Nangona kunjalo, ngamanye amaxesha lo mkhuseli, inkqubo yokuzikhusela, ngempazamo uqala ukuhlasela iiseli ezisempilweni kunye nezicubu zomzimba wethu . Kungathi asinakwazi ukuxelela ukuba ngubani ongowethu kwaye ngubani utshaba. Yiloo nto siyibiza ngokuba yimeko ye-autoimmune.

Yiloo nto eyenzekayo kumntu one-VEXAS Syndrome. Inkqubo yomzimba yokuzikhusela ihlasela iindawo ezahlukeneyo zomzimba, ibangela ukudumba nokudumba . Kufana nokuba kukho umlilo omncinci oqhubeka ngaphakathi emzimbeni.

I-VEXAS Syndrome inokuchaphazela la malungu omzimba alandelayo:

• Egazini lakho
• Ukuya kumongo wethambo
• Kwimithambo yegazi
• Yesikhumba sakho
• I-cartilage (ingakumbi ezindlebeni nasempumlweni)
• Ukuya kumalungu
• Ukuya emiphungeni
• Ngamehlo
• Amagama amasende kumadoda

Khawucinge ukuba oku kunokubangela ingxaki engakanani xa iindawo ezininzi kangaka zichaphazeleka ngaxeshanye. Isizathu sesi sifo kukuguquka kwezakhi zofuzo . Ukuchaneka, utshintsho kwizakhi zofuzo ezibizwa ngokuba yi-UBA1 gene . Le gene ye-UBA1 ivelisa i-enzyme evuselela i-E1 ubiquitin, okanye i-enzyme ye-E1 ngamafutshane. Umsebenzi wale enzyme kukucoca iimveliso zenkunkuma ezifana neeproteni ezingafunekiyo eziqokelelana ngaphakathi kweeseli zethu kwaye zincede ukulungisa umonakalo kwiiseli. Kufana nomntu okhupha inkunkuma endlwini yethu. Kodwa xa une-VEXAS Syndrome, i-enzyme ye-E1 eveliswa yi-gene ye-UBA1 ayisebenzi kakuhle. Kwenzeka ntoni emva koko? Inkunkuma iqokelelana ngaphakathi kweeseli.

Eyona nto ibalulekileyo kukuba ukuba le meko ayinyangwanga kakuhle, ngamanye amaxesha inokuba yingozi ebomini.Kungoko ke, kubalulekile ukufuna iingcebiso zonyango ukuba uneempawu. Oogqirha baza kukunika unyango olufunekayo ukulawula iimpawu zakho.

Lithetha ukuthini igama elithi VEXAS?

Igama elithi VEXAS lidibaniso loonobumba bokuqala bamagama aliqela anceda ekuchongeni esi sifo. Masibone ukuba zeziphi:

• Ii-V - Ii-Vacuoles: Ezi ziindawo ezingqukuva nezingenanto ezithi zibe ngaphakathi kweeseli ezingaqhelekanga. Ezi vacuoles zinokubonakala kwiiseli zomongo wethambo zabantu abane-VEXAS Syndrome.
• I-enzyme E - E1: Njengoko besitshilo ngaphambili, le yi-enzyme E1 engasebenzi kakuhle ngenxa yotshintsho kwi-gene ye-UBA1.
• X - X-linked: Uyazi ukuba isini sethu simiselwa zii-chromosomes ezimbini. Abafazi bane-chromosomes ze-XX kwaye amadoda anee-chromosomes ze-XY. I-gene ye-UBA1 eguquliweyo ebangela i-VEXAS Syndrome ikwi-chromosome ye-X.
• A - Ukudumba Okuzenzakalelayo: Eli ligama lezonyango lokudumba okwenzeka xa inkqubo yokuzikhusela yomzimba ihlasela umzimba wayo.
• S - I-Somatic: Utshintsho lwemfuza olubangela i-VEXAS Syndrome luhlobo lotshintsho olubizwa ngokuba yi-"somatic." Oku kuthetha ukuba lwenzeka ngokungacwangciswanga kwaye aluzuzwa kubazali. Oku kuthetha ukuba akufuneki ukhathazeke ngabantwana bakho ukuba balufumane kuba nje wena unalo.

Ngaba uyaqonda ukuba igama elithi VEXAS lavela njani? Ileta nganye kwezi ichaza ulwazi olubalulekileyo malunga nesifo.

Ixhaphake kangakanani i-VEXAS Syndrome?

Esi sisifo esingaqhelekanga ngokwenene. Iingcali zithi nakwilizwe elifana neMelika, esi sifo sichaphazela umntu omnye kwabayi-13,000. Nangona izibalo zaseSri Lanka zingachanekanga, kuyacaca ukuba esi sisifo esingaqhelekanga kakhulu.

Ziziphi iimpawu ze-VEXAS Syndrome?

Uphawu oluphambili lwesi sifo kukudumba . Ngoko ke, ezinye iimpawu zixhomekeke ekubeni ukudumba kwenzeka phi emzimbeni. Jonga ukuba unayo na kwezi mpawu:

• Ndihlala ndifumana umkhuhlane.
• Amanqanaba aphantsi eoksijini egazini (i-hypoxemia) .
• Iimpumlo ezahlukeneyo zesikhumba kunye ne-eczema.
• Ukudumba komzimba.
• Intlungu yamalungu.
• Ukukhwehlela.
• Ubunzima bokuphefumla (ukuphelelwa ngamandla).
• Ububomvu bamehlo.
• Intloko ebuhlungu.
• Ukudumba kwamasende kumadoda (orchitis).

Ukuba olunye okanye ngaphezulu kwezi mpawu luyaqhubeka, kububulumko ukufuna icebiso kugqirha kunokuba ungazinaki njengesifo esiqhelekileyo.

Kutheni i-VEXAS Syndrome isenzeka? Yintoni unobangela?

Njengoko besikhe sathetha ngaphambili, unobangela oyintloko woku kukuguquka kwezakhi zofuzo kwi-UBA1 gene . Ukuguqulwa kwezakhi zofuzo kukutshintsha kolandelelwano lwethu lwe-DNA . Xa iiseli zahlukana, oko kukuthi, xa iiseli zenza iikopi zazo, ngamanye amaxesha inxalenye yolu landelelwano lwe-DNA inokuba kwindawo engafanelekanga, ingaphelelanga, okanye yonakale. Kulapho ke kuvela khona iimpawu zeemeko zezakhi zofuzo.

Okwenzekayo kumntu one-VEXAS Syndrome kukuba i-UBA1 gene ayisebenzi kakuhle, kwaye i-enzyme ye-E1 ayiveliswanga ngendlela efanele. Ngokwesiqhelo, i-enzyme ye-E1 ifana "nesicoci" ngaphakathi kweeseli zethu. Umsebenzi wayo kukucoca inkunkuma, njengeeproteni ezindala nezonakalisweyo, ngaphakathi kweeseli. Kodwa xa une-VEXAS Syndrome, eli qela "lesicoci" alisebenzi kakuhle. Kwenzeka ntoni ke ngoko? Iiproteni kunye nenkunkuma eyonakeleyo ziyaqokelelana ngaphakathi kweeseli. Xa inkqubo yethu yomzimba yokuzikhusela ibona le nkunkuma iqokelelweyo, icinga ukuba kukho usulelo okanye isongelo apho. Kodwa ekubeni kungekho sulelo apho, inkqubo yomzimba yokuzikhusela ihlasela izicubu eziphilileyo. Yiloo nto ibangela ukudumba. Cinga ngayo njengelori yenkunkuma engacoci indlu kunye nenkunkuma eqokeleleneyo.

Ngubani osengozini enkulu yokufumana i-VEXAS Syndrome?

Izifundo zifumanise ukuba amadoda anamathuba amaninzi okufumana esi sifo. Sixhaphake kakhulu nakubantu abaneminyaka engaphezu kwama-50 ubudala. Oku kuthetha ukuba utshintsho lwemfuza oluza nokukhula lunokudlala indima.

Ziziphi iingxaki ezinokubakho ze-VEXAS Syndrome?

Ukuba ukudumba okubangelwa yi-VEXAS Syndrome kuchaphazela umongo wakho wethambo , kunokukhokelela kwimeko ebizwa ngokuba kukusilela komongo wethambo. Oku kunokuba yingozi ebomini.

Ngokuxhomekeke ekubeni ukudumba kwenzeka phi, umntu one-VEXAS Syndrome unokuba neengxaki zempilo ezifana nezi:

• I-Leukemia ( uhlobo lomhlaza wegazi)
• I-Myocarditis (ukudumba kwemisipha yentliziyo)
• I-anemia
• I-Dermatitis ( ukudumba kolusu)
• I-Chondritis (ukudumba kwe-cartilage)
• I-Vasculitis (ukudumba kwemithambo yegazi)
• I-Arthritis ( ukudumba kwamalungu)
• Ukuqhekeka kwegazi kwimithambo enzulu (iDeep Vein Thrombosis - DVT)
• I-Colitis (ukudumba kwamathumbu amakhulu)

Jonga indlela ezinokubangela iingxaki ezinkulu ngayo ezi meko. Yiyo loo nto ukufumanisa kwangethuba kunye nonyango kubalulekile.

Oogqirha bayifumanisa njani i-VEXAS Syndrome?

Ugqirha uza kuxilonga i-VEXAS Syndrome ngokukuxilonga ngokwasemzimbeni aze enze uvavanyo lwemfuza . Uza kuhlola ngononophelo iimpawu zakho aze akubuze malunga nokuba unexesha elingakanani unazo ezi mpawu.

Nangona kunjalo, indlela ekuphela kwayo yokwazi ngokuqinisekileyo ukuba une-VEXAS Syndrome kukuvavanya i-genetic. Kule meko, ugqirha wakho uza kuthatha isampuli yegazi lakho, ulusu, iinwele, okanye ezinye izicwili aze azithumele kwilebhu. Iingcali apho ziya kuvavanya i-DNA yakho ukuze zibone ukuba unayo na i-mutation kwi-UBA1 gene ebangela i-VEXAS Syndrome.

Ziziphi iindlela zonyango lwe-VEXAS Syndrome?

Iindlela eziphambili zonyango lwale meko zezi:

• Ii-corticosteroids zinciphisa ukudumba.
• Ii-immunosuppressants zinciphisa inkqubo yakho yomzimba yokuzikhusela.
• Ukuba umongo wakho wethambo ubonakalisa iimpawu zokungasebenzi kakuhle, ungadinga ukufakelwa umongo wethambo . Ukufakelwa umongo wethambo kunokunciphisa ubunzima bezinye izifo ezichaphazela amasosha omzimba.

Ungathunyelwa kwingcali yamathambo , ugqirha ogxile kwizifo zamalungu kunye nezokuzikhusela komzimba, onokukunika ulwalathiso oluchanekileyo malunga nokunyanga ezi meko.

Ngaba i-VEXAS Syndrome ingathintelwa?

Ngelishwa, okwangoku akukho ndlela yokuthintela esi sifo . Utshintsho kwi-UBA1 gene lwenzeka ngokungacwangciswanga, ngaphandle kwesizathu esaziwayo. Ngoko ke asinakuyithintela kwangaphambili.

Ingakanani ixesha lokuphila komntu one-VEXAS Syndrome?

Le yingxaki ebucayi kakhulu. Inyani yile, wonke umntu wahlukile, kwaye indlela i-VEXAS Syndrome echaphazela ngayo umzimba wakho inokwahluka kumntu nomntu. Nangona kunjalo, njengoko besitshilo ngaphambili, le meko inokuba yingozi ebomini ukuba ayinyangwa. Ngoko ke thetha ngokukhululekileyo nogqirha wakho malunga noko unokukulindela kunye neendlela zonyango ezikulungeleyo. Unokukunceda ukulawula iimpawu zakho kwaye akuthumele kwiingcali zempilo yengqondo nakwezinye iinkonzo zenkxaso ukuba kuyimfuneko.

Ndifanele ndimbone nini ugqirha?

Ukuba ufumana naziphi na iimpawu ze-VEXAS Syndrome, ezinje ngomkhuhlane, ukurhawuzelela kolusu, okanye ubunzima bokuphefumla, qiniseka ukuba ubona ugqirha. Ngenxa yokuba i-VEXAS Syndrome ibangela iimpawu ezahlukeneyo ezinokubonakala zingahambelani, ngamanye amaxesha kunokuba nzima ukuzifumanisa ekuqaleni. Nangona kunjalo, mamela umzimba wakho, kwaye ukuba uneempawu ongaziqondiyo okanye ezingahambelani nezinye iimeko zakho zempilo, thetha nogqirha ngazo.

Ukuba sele ufunyenwe une-VEXAS Syndrome, kwaye uziva ngathi ubonakalisa iimpawu ezintsha okanye iimpawu zakho ezikhoyo ziya zisiba mandundu, bona ugqirha ngokukhawuleza.

Ingxamiseko! Ukuba unomkhuhlane ongaphezulu kwe-103°F (39.5°C) kangangeeyure ezingaphezu kwembini nangona unyango lusenziwa ekhaya, yiya kwigumbi likaxakeka. Ukuba unengxaki yokuphefumla, yiya esibhedlele ngoko nangoko okanye utsalele umnxeba ku-911 (okanye inombolo yakho kaxakeka yasekuhlaleni).

Ndingayibuza yiphi imibuzo ugqirha wam?

Xa usiya kugqirha, lungela ukubuza imibuzo efana nale:

• Ngaba ndine-VEXAS Syndrome, okanye yenye imeko?
• Ngaba kuya kufuneka ndenze uvavanyo lwemfuza?
• Luhlobo luni lonyango endiludingayo?
• Zeziphi iimpawu okanye utshintsho ekufuneka ndilujonge?
• Ngaba i-VEXAS Syndrome iyingozi ebomini bam?

Le mibuzo iya kuba yindawo elungileyo yokuqala ingxoxo nogqirha wakho.

Ekugqibeleni, ekugqibeleni, khumbula oku (Umyalezo Wokuya Ekhaya)

I-VEXAS Syndrome sisifo esingaqhelekanga sokuzikhusela komzimba esibangelwa kukuguquka kwezakhi zofuzo ezithile. Sinokubangela ukudumba emzimbeni wakho wonke kwaye singasongela ubomi ukuba asinyangwa. Kodwa ungalahli ithemba . Ugqirha wakho unokukunceda ufumane unyango olufanelekileyo lokulawula iimpawu zakho.

Ukuba ufumana naziphi na iimpawu ze-VEXAS Syndrome, bonana nogqirha. Zithembe, mamela umzimba wakho. Musa ukuzityeshela iimpawu ezinje ngomkhuhlane, ukurhawuzelela, kunye nobunzima bokuphefumla. Ngokuchongwa kwangoko kunye nonyango olufanelekileyo, ungaphila ubomi obusempilweni.

Isifo se - VEXAS, Izifo eziZikhusela ngokwazo, Ukudumba, Utshintsho kwiMvelo, iJini ye-UBA1, uMbozo weBone