Ukuthini i-X-Linked Agammaglobulinemia? Izimpawu, Izimbangela, & Ukwelashwa

I-X-linked agammaglobulinemia (XLA) iyisimo esingavamile sezofuzo lapho umzimba wakho ungakwazi ukwenza ama-antibodies anele alwa nezifo, okuthiwa yi-immunoglobulins. Lokhu kwenzeka ngoba i-gene ethile esiza ekwenzeni amangqamuzana akhiqiza ama-antibodies ayisebenzi kahle, okwenza ube sengozini yokulimala ngezinhlobo ezithile zezifo.

Cabanga ngama-antibodies njengabaqaphi abakhethekile bomzimba wakho abakhumbula futhi balwe nezifo obuke wazibhekana nazo ngaphambili. Uma une-XLA, leli qembu labaqaphi linabantu abambalwa kakhulu, okwenza kube nzima emzimbeni wakho ukuzivikela kubhaktheriya nezinye izinhlobo zezifo.

Zithini izimpawu ze-X-linked agammaglobulinemia?

Isilwane esivelele se-XLA yilokhu okutholakala izifo ezinkulu ezibangelwa yibhaktheriya njalo, ngokuvamile kuqala ezinyangeni ezimbalwa zokuqala noma eminyakeni yobomi. Lezi azilona nje izifo ezivamile noma izifo ezilula, kodwa izifo ezibukeka zinzima kakhulu noma ziqhubeka zibuyela naphezu kokwelashwa.

Nawa ama-symptom abalulekile ongawaqaphela, khumbula ukuthi isipiliyoni somuntu ngamunye singahluka:

• Ukutheleleka okuphikisayo kokuphefumula: I-pneumonia, i-bronchitis, noma ukutheleleka kwe-sinus okuvamile okuvela njalo ezinsukwini ezimbalwa noma ezinyangeni ezimbalwa
• Ukutheleleka kwezindlebe: Ukutheleleka okuphindaphindayo kwezindlebe eziphakathi okungabangela izinkinga zokuzwa uma kungelaphi kahle
• Ukutheleleka kwesikhumba nezinye izicubu ezithambile: Ama-boils, ama-abscesses, noma i-cellulitis evela njalo
• Ukutheleleka komgudu wokugaya ukudla: Ukukhuluphala okungapheli noma ukutheleleka kwesisu okungaphenduli kahle ekwelapheni okuvamile
• Ukutheleleka kwamajozi: Ukukhula, ubuhlungu, nokuqina kwamajozi, ikakhulukazi amadolo, izingalo, noma izandla
• Ukubuyisela okuhamba kancane: Ukusika, ukukhahlela, noma amaqatha okuhlinzwa athatha isikhathi eside kunokulindelekile ukuphulukisa
• Ukwehluleka kokukhula: Kubantwana abasebancane nabasha, ukwanda okuncane kobunzima noma ukukhula okulile

Okwenza i-XLA ibe inselele ngokukhethekile ukuthi lezi zifo zivame ukungaphenduli ngokushesha kuma-antibiotics njengoba zingenza kumuntu onesistimu yokukhulisa impilo. Ungase uqaphele ukuthi ukutheleleka kubonakala kuhlala isikhathi eside noma kudinga imithi enamandla kunokujwayelekile.

Kubalulekile ukuphawula ukuthi abantu abane-XLA bavame ukuphatha kahle izifo ezibangelwa yi-viral njenge-chickenpox noma i-measles, njengoba ama-T-cells abo (ingxenye yesistimu yokukhulisa) isebenza kahle. Lokhu empeleni kungaba yisikhuthazo esisizayo kubadokotela lapho benza ukuxilongwa.

Yini ebangela i-X-linked agammaglobulinemia?

I-XLA ibangelwa yizinguquko (izinguquko) ku-gene ebizwa nge-BTK, emele i-Bruton's tyrosine kinase. Le gene iqukethe imiyalo yokwenza i-protein ebalulekile ukuze ama-B-cells akhule kahle.

Ama-B-cells yi-white blood cells ekhethekile eya ekuvuthweni kwama-plasma cells, okuyizitsha ze-antibody zomzimba wakho. Uma i-BTK gene ingasebenzi kahle, ama-B-cells awakwazi ukuqedela ukuthuthukiswa kwawo, ngakho-ke uqeda ngama-B-cells amancane kakhulu noma angenayo nama-plasma cells.

Isimo sibizwa ngokuthi "X-linked" ngoba i-BTK gene ihlala ekhromozomini ye-X. Njengoba amadoda enekhromozomu elilodwa le-X (XY), adinga ikhophi elilodwa elisebenzi kahle le-gene ukuze athuthukise i-XLA. Abafazi bane-khromozomu ezimbili ze-X (XX), ngakho-ke bazodinga amakhophi asebenzi kahle kokubili ama-khromozomu ukuze athinteke, okuyimfihlelo kakhulu.

Leli phethini lokuzuza lisho ukuthi i-XLA cishe ibathinta kuphela amadoda futhi idluliselwa kumama aphethe ushintsho lwe-genetic. Omama abaphethe ngokuvamile banezimpande zokulwa nezifo ezinempilo, kodwa banethuba elingu-50% lokudlulisela lesi simo kunyana ngamunye.

Imiphi imihlobo ye-X-linked agammaglobulinemia?

I-XLA ayinazinhlobo ezihlukile njengamanye amasimo, kodwa odokotela bayabona ukuthi ububi bungashintsha kakhulu kusuka kumuntu komunye. Abanye abantu bahlangabezana nezifo eziningi noma ezinzima, kanti abanye bangaba nekhondo elithambile.

Ukuhlukahluka kuvame ukuxhomekeka ekutheni i-BTK gene ithinteka kanjani. Amanye ushintsho lwe-genetic luyeka ngokuphelele i-protein ukusebenza, kanti amanye avumela umsebenzi othile. Noma kunjalo, ngisho nangezici ezahlukene, bonke abantu abane-XLA bahlanganyela inkinga efanayo yokungakwazi ukukhiqiza ama-antibodies anele.

Udokotela wakho angase futhi ahlukanise phakathi kwemibandela ekuqaleni kanye nezimbangela ezitholakele kamuva. Abantwana abaningi abane-XLA baqala ukubonisa izimpawu phakathi kweminyaka emibili yokuqala yokuphila, kodwa ngezinye izikhathi, amacala athambile awaboniwe kuze kube seminyakeni yesikole noma ngisho nasebudaleni.

Nini kufanele ubone udokotela nge-X-linked agammaglobulinemia?

Kufanele ufuna ukunakekelwa kwezokwelapha uma wena noma ingane yakho ihlangabezana nezifo eziningi, ezinzima, noma ezingavamile ezingabonakali zilandela izindlela ezivamile. Lokhu kubaluleke kakhulu uma izifo zingaphenduli kahle ekwelapheni okuvamile noma ziqhubeka zibheka ngokushesha ngemuva kokuphela kwe-antibiotics.

Cabanga ukubona udokotela ngokushesha uma uqaphela noma yiziphi izimpawu zezexwayiso:

• Ukutheleleka kwemilomo okungaphezu kwemine ngonyaka
• Ukutheleleka okubili noma ngaphezulu kwe-sinus okuqatha ngonyaka
• I-pneumonia eyenzeka ngaphezu kwenye
• Ukutheleleka okudinga ukungena esibhedlela noma ama-antibiotic ase-intravenous
• Ukutheleleka okuqhubekayo naphezu kokwelashwa okufanele ngama-antibiotic
• Ukutheleleka okungavamile ezindaweni ezinjengezinhlangothi noma ezihlanganweni ezinzulu
• Ukukhula okubi noma intuthuko kubantwana kanye nokutheleleka okuvamile

Uma kukhona umlando womndeni we-immunodeficiency noma uma ungowesifazane onabafowabo ababenokutheleleka okuqatha okuvamile ebuntwaneni, kubalulekile ukuxoxa ngalokhu nodokotela wakho. Ukuqaphela nokwelashwa kwasekuqaleni kungenza umehluko omkhulu ekunqobeni izinkinga.

Unganqikazi ukuzikhulumela noma ingane yakho uma kukhona okubonakala kungalungile, ngisho noma abanye bethi ukutheleleka “kuvamile.” Themba izinzwa zakho uma ukutheleleka kubonakala kuvamile noma kuqatha kakhulu.

Iyini izingozi ze-X-linked agammaglobulinemia?

Ingozi eyinhloko ye-XLA ukuba nomgudu we-genetic obangela le simo. Njengoba lokhu kuyisifo esidluliselwa ezizukulwaneni, umlando womndeni udlala indima ebaluleke kakhulu ekuqondeni ingozi.

Nawa amaphuzu ayinhloko andisa amathuba okuba ne-XLA:

• Ukuba owesilisa: Njengoba i-XLA ixhunyaniswe ne-X, amadoda kuphela athinteka kakhulu
• Ukuba umama ophethe i-gene: Abafazi abaphethe ikhophi elilodwa eliphosakeleyo le-BTK gene banesilinganiso sama-50% sokulidlulisela kubo bonke oonyana babo
• Umlando womndeni: Ukuba nabafowabo (ikakhulukazi ngakwesoka) abane-history yokutheleleka okuqatha okuvamile noma i-immunodeficiency eqinisekisiwe
• Iphethini yomndeni wamama: Iphethini yokufa kwabantwana besilisa noma ukutheleleka okuqatha okuthinta abafana emndenini kamama

Kubalulekile ukuqonda ukuthi i-XLA ayibangelwa yilutho abazali abalwenzile noma abangazange balwenze ngesikhathi sokukhulelwa. Ayihlobene nezici zesitayela sokuphila, ukudalulwa kwemvelo, noma ukunakekelwa kwezokwelapha ngesikhathi sokukhulelwa. Ushintsho oluhlukanisayo oluyimbangela ye-XLA lungadluliselwa ezizukulwaneni ezedlule noma lungavele njengoshintsho olusha.

Kwezinye izimo, ushintsho oluhlukanisayo luvela okokuqala emndenini, okusho ukuthi ayikho imbali yomndeni yangaphambili. Lokhu kwenzeka cishe ku-15-20% yezimo ze-XLA futhi kubizwa ngokuthi “de novo” noma ushintsho olusha.

Ziyini izinhlanganisela ezingase zenzeke ze-X-linked agammaglobulinemia?

Ngaphandle kokwelashwa okufanele, i-XLA ingabangela izinhlanganisela eziningi ezinkulu, kodwa kubalulekile ukwazi ukuthi eziningi zalezi zingavinjelwa noma ziphathwe kahle ngokunakekelwa kwezokwelapha okufanele. Ukuqonda lezi zinkinga ezingase zenzeke kusiza wena neqembu lakho lokunakekelwa kwezempilo ukuba niqaphele futhi nithathe izinyathelo zokuvikela.

Izinhlanganisela ezivame kakhulu zihlanganisa:

• Ukonakala okungapheli kwemiphunga: Ukutheleleka okuphindaphindayo kokuphefumula kungalimaza inyama yemiphunga ngokuhamba kwesikhathi, okungenzeka kube yimbangela ye-bronchiectasis (izindlela zokuphefumula ezibanzi ngokuhlala njalo)
• Ukulahlekelwa ukuzwa: Ukutheleleka kwemilenze okuvamile kungalimaza izakhiwo ezincane ze-indlebe ephakathi, kubangele ukulahlekelwa ukuzwa okuphelele noma okungaphelele
• Ukonakala kwamajozi: Ukutheleleka kwezibhaktheriya emajojini kungabangela ukonakala okungapheli, ubuhlungu, nokuncipha kokunyakaza uma kungelashwa ngokushesha
• Ukulibaziseka kokukhula nokuthuthuka: Ukutheleleka okungapheli nokuvuvukala kungaphazamisa izindlela zokukhula ezingavamile ezinganeni
• Ukungaqabuli kahle: Ukutheleleka okuhlala njalo kwesisu kungalimaza umgca wesisu, okwenza kube nzima ukuqapha izondlo kahle
• I-Sepsis: Ukutheleleka okukhulu ngezinye izikhathi kungasabalala egazini, kudale izinhlanganisela ezisongela impilo

Izinhlanganisela ezingavamile kodwa ezingathi sína kakhulu zingase zihlanganise:

• Ukutheleleka kwengqondo: Ukutheleleka ngamabhaktheriya ngezinye izikhathi kungafinyelela ebuchosheni nasemgogweni womhlane
• Osteomyelitis: Ukutheleleka kwamafuzi okungaba nzima ukuwelapha futhi kungabangela izinkinga zesikhathi eside
• Izinkinga ezihlobene ne-vaccine: Ama-vaccine aphilayo angabangela ukutheleleka okukhulu kubantu abane-XLA

Izindaba ezimnandi ukuthi ngokwelashwa okulungile, kufaka phakathi ukwelashwa okuqhubekayo kokufakwa kwe-immunoglobulin nokusetshenziswa okulungile kwe-antibiotics, abantu abaningi abane-XLA bangaphila impilo evamile ngokunciphisa kakhulu ingozi yalezi zinkinga. Ukuxilongwa kwasekuqaleni nokunakekelwa kwempilo okuqhubekayo kwenza umehluko omkhulu ekunqobeni lezi zimpumelelo ezinkulu.

Kungenzeka kanjani ukuvimbela i-X-linked agammaglobulinemia?

Njengoba i-XLA isimo sezofuzo, awukwazi ukuvimbela isimo ngokwalo ukuba senzeke. Noma kunjalo, kunizinyathelo ezibalulekile imindeni engayithatha ukuze ibone ingozi kusenesikhathi futhi ivimbele izinhlupheko eziningi ezinkulu ezihlobene ne-XLA.

Emindenini enomlando owaziwayo we-XLA, ukwelulekwa kwezofuzo kungaba yigugu kakhulu. Umluleki wezofuzo angakusiza ukuqonda iphethini yokudluliselwa, uxoxe ngezinketho zokuhlola, futhi uhlole izinketho zokuhlela umndeni. Ukuhlolwa kwangaphambi kokubeleka kuyatholakala emindenini eyazazi ukuthi ithwala i-BTK gene mutation.

Uma i-XLA ixilongwe, ukuvimbela kugxila ekugwemeni ukutheleleka nezinhlupheko zalo:

• Ukwelashwa okuvamile nge-immunoglobulin: Lena yiyona ndlela ebaluleke kakhulu yokuvimbela, inikeza amasu omzimba wakho ongakwazi ukuwenza
• Ukuqeda amasu aphilayo: Ama-vaccines aphilayo angabangela ukutheleleka okukhulu kubantu abane-XLA
• Imikhuba emihle yokuhlanzeka: Ukugeza izandla njalo nokuqeda ukuba ezindaweni ezihlanganisene ngesikhathi kukhona ukusabalala kwezifo
• Ukuphathwa ngokushesha kwezifo: Ukwelashwa ngama-antibiotic kusenesikhathi kungavimbela ukutheleleka okuncane ukuba kube okukhulu
• Ukulandelelwa njalo kwezokwelapha: Ukuhlolwa okuvamile kusiza ekutholeni izinkinga kusenesikhathi

Ukuvimbela kusho futhi ukuba nokuqapha mayelana nokukhathalela kwempilo yakho. Gcina uqhubeka nokuya emakhonweni njalo, gcina uxhumano oluhle neqembu lakho lezokwelapha, futhi ungangabazi ukufuna ukunakekelwa uma kukhona okubonakala kungalungile.

Ixilinked agammaglobulinemia ihlonishwa kanjani?

Ukuhlola i-XLA kuvame ukubandakanya izinyathelo eziningi, kuqale ngokubona iphethini yokutheleleka okuvamile, okukhulu kwezibhaktheriya. Udokotela wakho cishe uzoqala ngomlando wezokwelapha onemininingwane kanye nokuhlolwa komzimba, enika ukunakekelwa okukhethekile emlandweni wakho wokutheleleka nangemvelaphi yomndeni wakho.

Inqubo yokuhlola ivame ukubandakanya lezi zivivinyo eziyisisekelo:

• Amazinga e-immunoglobulin: Izivivinyo zegazi zilinganisa amazinga akho e-IgG, IgA, ne-IgM antibodies, avame ukuba aphansi kakhulu noma engekho ku-XLA
• Inani le-B-cell: Uvivinyo lwe-flow cytometry luhlola ukuthi zingaki i-B-cells ezikulo igazi lakho, ngokuvamile uthola ezimbalwa kakhulu noma azikho nhlobo
• Ukuhlolwa kokusebenza kwe-antibody: Udokotela wakho angahlola ukuthi ungenza yini ama-antibodies kuma-vaccines owawamukela
• Ukuhlolwa kwe-genetic: Ukuhlolwa kwe-BTK gene kuqinisekisa ukuxilongwa futhi kuqonde ushintsho oluthile lwe-genetic

Ngezinye izikhathi ukuhlolwa okwengeziwe kusiza ekuqedeni ezinye izimo noma ekuqondeni izinkinga:

• Ukuhlolwa kwesibalo samagagasi egazi ukuhlola inani eliphelele lamaseli ezingqondo zokulwa nezifo
• Izivivinyo zezifo ezithile ezingase zibe khona
• Izifundo zokubonisa izithombe njenge-X-rays yesifuba noma i-CT scans ukuhlola ukulimala kwamaphaphu
• Izivivinyo zokuzwa uma kukhona umlando wezifo zezindlebe eziqhele ukuba khona

Inkqubo yokuxilonga ingathatha isikhathi esithile, ikakhulukazi uma i-XLA ingatholwa ngokushesha. Abantu abaningi bathola ukuxilongwa kwabo ngemuva kokubona ochwepheshe abaningi noma ngemuva kokungeniswa esibhedlela izikhathi eziningi ngenxa yezifo. Lokhu kuyinto evamile, njengoba i-XLA iyindlala futhi ekuqaleni ingadideka nezinye izimo.

Ukuthola ukuxilongwa okuchane kukunzima kakhulu ngoba kuguqula indlela izifo zivivinywa futhi zitholwe ngayo. Uma usuvele uqinisekiswe ukuxilongwa kwakho, iqembu lakho lokunakekelwa kwezempilo lingakha uhlelo lokwelapha oluphelele olufanele izidingo zakho.

Iyini impilo ye-X-linked agammaglobulinemia?

Impilo eyinhloko ye-XLA ukwelashwa kokufakwa kwe-immunoglobulin, okunikeza umzimba wakho ama-antibodies angakwazi ukuzenzela. Lolu lwelo lwaguqula umbono wabantu abane-XLA futhi luvumela abantu abaningi ukuba baphile impilo evamile, enempilo.

Ukwelashwa kokufakwa kwe-immunoglobulin kuhilela ukufakwa njalo kwama-antibodies aqoqwe kubanikazi bezigqoko eziphilile. Ungathola le mpilo ngezindlela ezimbili:

• Intravenous immunoglobulin (IVIG): Inikezwa nge-IV njalo ngemva kwamasonto angu-3-4, ngokuvamile esibhedlela noma esikhungweni sokufakwa
• Subcutaneous immunoglobulin (SCIG): Ifakwa phansi kwesikhumba masonto onke noma ngemva kwamasonto amabili, ngokuvamile kwenziwa ekhaya ngemuva kokutholwa ukuqeqeshwa okufanele

Udokotela wakho uzosebenza nawe ukuze unqume ukuthi iyiphi indlela efanele kakhulu indlela yakho yokuphila nezidingo zakho zezokwelapha. Zombili ziyasebenza, kepha abanye abantu bakhetha ukulula kokwelashwa ekhaya nge-SCIG.

Ngaphezu kokwelashwa kwe-immunoglobulin, ukwelashwa kuhlanganisa:

• Ukwelashwa ngama-antibiotic: Ukwelashwa okusheshayo kwezifo ezingabangelwa yibhaktheriya, ngezinye izikhathi kusetshenziswa izikhathi ezide kunokujwayelekile
• Ama-antibiotic okuvimbela: Abanye abantu bayazuza ngama-antibiotic ansuku zonke ukuvimbela ukutheleleka
• Ukuqeda imithi yokugcoba ephilayo: Le mithi ingabangela ukutheleleka okukhulu kubantu abane-XLA
• Ukuqapha njalo: Izivivinyo zegazi eziqondile kanye nokuhlolwa okuqhubekayo ukuhlola ukuphumelela kokwelashwa
• Ukukhathalela okusekayo: Ukwelashwa kwezinkinga ezithile njengokuphulukana nokuzwa noma izinkinga zephunga

Umgomo wokwelashwa ukunqanda ukutheleleka nokugcina amazinga ajwayelekile e-immunoglobulin egazini lakho. Abantu abaningi baphawula ukwehla okukhulu kweminani yokutheleleka nobunzima uma beqala ukwelashwa okuqhubekayo.

Ukuphathwa kuvame ukuphila konke, kodwa abantu abaningi bazivumelanisa kahle nomkhuba futhi bathole ukuthi kuba yingxenye ephatheka kahle yohlelo lwabo lokunakekelwa kwezempilo. Iqembu lakho lezokwelapha lizoqondanisa njalo uhlelo lwakho lokwelashwa ngokususelwa ekuphenduleni kwakho nanoma yiziphi izinguquko esimweni sakho sempilo.

Ungayiphatha kanjani i-X-linked agammaglobulinemia ekhaya?

Ukuphatha i-XLA ekhaya kuhilela ukwakha umkhuba osekelayo isimiso sakho sokuvikela umzimba futhi usize ukuvimbela ukutheleleka. Into ebaluleke kakhulu ongayenza ukugcina ukuzinza ngokwelashwa kwakho okunqunywe futhi uhlale uxhumana eduze neqembu lakho lezokwelapha.

Amasu okulawula imihla ngemihla afaka:

• Ukuhlanzeka okuhle: Geza izandla zakho njalo ngesepha namanzi, ikakhulukazi ngaphambi kokudla nangemva kokuba ukhona ezindaweni zomphakathi
• Ukulondolozwa kwezinyo: Hlanza izikhukhula neziqongo ngokushesha bese uqaphela izimpawu zokutheleleka njengokubomvu okwandayo, ukushisa, noma ihlwempu
• Ukusebenzisa imithi: Thatha yonke imithi ephakanyisiwe ngokuqondile njengoba kuyalwe, kufaka phakathi ama-antibiotic okuvimbela
• Ukuqapha ukushisa komzimba: Hlola ukushisa komzimba wakho uma uzizwa ungaphili kahle, njengoba ukushisa kuvame ukubonisa isidingo sokunakekelwa kwezokwelapha
• Ukugcwala kwamanzi nokudla: Gcina impilo enhle ngokudla okuhle nokunisela okwanele

Kubalulekile futhi ukuqaphela ukuthi nini kufanele ufunuke ukunakekelwa kwezokwelapha. Xhumana nodokotela wakho uma uthola ukushisa, ukukhokha okuqhubekayo, ukukhathala okungavamile, noma yiziphi izimpawu ezibukeka zikhathaza. Ungalindi ukubona ukuthi izimpawu ziyathuthuka ngokwazo, njengoba ukwelashwa kwasekuqaleni kuvame ukuba nomphumela omuhle.

Uma uthola i-immunoglobulin subcutaneous ekhaya, gcina amarekhodi aphelele okugeleza kwakho, kufaka phakathi izinsuku, imithamo, nanoma yiziphi izingozi ezihambisana nayo. Lolu lwazi lusiza iqembu lakho lezokwelapha ukwenza ukwelashwa kwakho kube ngcono.

Cabanga ngokugqoka ibhulukwe yokuxwayisa yezokwelapha noma uthwale ikhadi elibonisa isimo sakho. Lokhu kungabaluleka uma udinga ukunakekelwa kwezokwelapha kwezimo eziphuthumayo futhi awukwazi ukuxhumana nomlando wakho wezokwelapha.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho nodokotela?

Ukulungiselela i-aphoyintimenti yakho yezokwelapha kungasiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho neqembu lakho lezokwelapha. Ukuletha ulwazi oluhleliwe mayelana nezimpawu zakho nemibuzo kusiza udokotela wakho ukuba anikeze ukunakekelwa okuhle kakhulu.

Ngaphambi kwe-aphoyintimenti yakho, buthana lolu lwazi olubalulekile:

• Umbiko wokutheleleka: Bhala imininingwane mayelana nokutheleleka kwamuva, kufaka phakathi izinsuku, izimpawu, ukwelashwa, nokuthi kwahlala isikhathi esingakanani
• Uhlu lwemithi: Letha uhlu oluphelele lwazo zonke izidakamizwa, izithasiselo, kanye nokuphathwa okuwasebenzisayo njengamanje
• Amarekhodi okwelashwa: Uma uthola ukwelashwa kwe-immunoglobulin, letha amarekhodi okwelashwa kwamuva nanoma yiziphi izingozi ezihambisana nakho
• Umbiko womndeni: Lungisa ulwazi mayelana nanoma yimaphi amalungu omndeni anezingqinamba ze-immune noma ukutheleleka okuvamile
• Imibuzo nezinkinga: Bhala imibuzo ethile ofuna ukuyibuza ngesikhathi sokuvakashela kwakho

Cabanga ngokuletha ilungu lomndeni noma umngani ekuqokweni kwakho, ikakhulukazi ngezivakashi ezibalulekile njengokuqala ukubonisana noma izikhathi zokuhlela ukwelashwa. Bangakusiza ukuba ukhumbule ulwazi oluxoxwe ngesikhathi sokuvakashela futhi banikeze ukwesekwa ngokomzwelo.

Ungangabazi ukubuza iqembu lakho lokunakekela impilo ukuthi lichaze noma yini ongeyiqondi. Ulwimi lwezokwelapha lungadida, futhi kubalulekile ukuthi uzizwe ukhululekile ngohlelo lwakho lokwelashwa. Buza ngezingozi ezingaba khona, lokho okufanele ukulindele ekwelapheni, nokuthi nini kufanele uxhumane neqembu lezokwelapha ngezinkinga.

Uma ubona udokotela omusha, buza ngolwazi lwabo lokwelapha i-XLA noma ezinye izifo ezingaphansi kwe-immunodeficiency. Nakuba i-XLA iyindlala, ufanele unakekelwe abahlinzeki abaqonda isimo sakho futhi bangaxhumanisa kahle ochwepheshe.

Iyini into ebaluleke kakhulu mayelana ne-X-linked agammaglobulinemia?

Into ebaluleke kakhulu okumele uyiqonde mayelana ne-XLA ukuthi nakuba kuyisimo esinzima esidinga ukuphathwa okuphila konke, abantu abane-XLA bangaphila impilo egcwele, esebenzayo ngokwelashwa okufanele. Ukuxilongwa kwasekuqaleni nokukhathalela okungaguquki kwezokwelapha kwenza umehluko omkhulu ekunqobeni izinkinga nokugcina impilo enhle.

Ukwelashwa okuqhubekayo nge-immunoglobulin kunomphumela omkhulu ekunqobeni ukutheleleka okuvamile, okukhulu okuphawula i-XLA engalashwanga. Abantu abaningi baphawula ukuthuthuka okukhulu emazingeni okutholakala kwabo nokuphila kahle uma beqala ukwelashwa okufanele.

Khumbula ukuthi i-XLA ibathinta ngezindlela ezahlukene bonke abantu, futhi uhlelo lwakho lokwelashwa kufanele lulungiswe ngokwezidingo zakho ezikhethekile nendlela yakho yokuphila. Sebenzisana eduze neqembu lakho lokunakekelwa kwezempilo ukuthola indlela yokwelashwa elisebenza kangcono kuwe, kungaba ukwelashwa kwe-IV esibhedlela noma ukwelashwa kwe-subcutaneous ekhaya.

Hlala uhileleke ekunakekelweni kwakho ngokugcina ulandelela izimpawu zakho, ugcine ukuxhumana okuhle neqembu lakho lezokwelapha, futhi ungangabazi ukufuna usizo uma ulikhona. Ngokuphathwa okuhle, i-XLA ayidingi ukulinganisela ikhono lakho lokusebenza, ukuhamba, ukuzivocavoca, noma ukujabulela imisebenzi yokuphila.

Imibuzo evame ukubuzwa mayelana ne-X-linked agammaglobulinemia

Ingabe abantu abane-XLA bangaphila isikhathi eside esijwayelekile?

Yebo, ngokwelashwa okufanele, abantu abane-XLA bangaba nokuphila okujwayelekile. Ukwelashwa okuqhubekayo nge-immunoglobulin kanye nokukhathalelwa kwezokwelapha okufanele kuye kwathuthukisa kakhulu imiphumela. Nakuba i-XLA idinga ukuphathwa okuqhubekayo, ayiqinisekisi ukufinyeka isikhathi sokuphila uma ilapheka kahle.

Ingabe i-XLA iyadluliseka?

Cha, i-XLA ayidluliseki nhlobo. Iyisimo se-genetic ozalwa naso, hhayi into ongayithola noma uyidlulisele kwabanye abantu. Noma kunjalo, abantu abane-XLA bangase babe sengozini enkulu yokutheleleka kwabanye ngenxa yesistimu yabo yokukhulula ebuthakathaka.

Ingabe abesifazane bangaba ngabahlali be-XLA ngaphandle kokukwazi?

Yebo, abesifazane bangaba ngabahlali be-BTK gene mutation ngaphandle kokuba nazimpawu. Abafazi abahlali bane-copy eyodwa evamile ne-copy eyodwa ephosakele yiyona gene, kodwa i-copy yabo evamile ngokuvamile inikeza umsebenzi owanele wesimiso esempilo. Ukuhlolwa kwe-genetic kungabona isimo sokuhlala.

Kwenzekani uma umuntu onenkinga ye-XLA ethola i-COVID-19 noma ezinye izifo ezibangelwa yi-viral?

Abantu abane-XLA ngokuvamile bakwazi ukulwa nezifo eziningi ezibangelwa yi-viral ngempumelelo ngoba ama-T-cell abo nezinye izingxenye zesimiso sabo sokuvikela umzimba sisebenza kahle. Noma kunjalo, kufanele baqhubeke beqaphela ngesikhathi sezikhukhula futhi baxoxe ngezindlela zokugonywa neqembu labo lokunakekelwa kwezempilo, njengoba amanye ama-vaccine angase angabi namphumela.

Ingabe abantwana abane-XLA bangaya esikoleni njengoba nje?

Abantwana abaningi abane-XLA bangaya esikoleni njalo uma ukwelashwa kwabo kuqiniswe. Noma kunjalo, kungase kudingeke bagweme imisebenzi ethile efana nokuthintana nabafundi abanezinhlungu eziphilayo, futhi abanakwamukela ama-vaccine aphilayo adingekayo ngezinye izikhathi ukuze baye esikoleni. Ukusebenzisana nochwepheshe bezempilo besikole nabaphathi kusiza ukuqinisekisa indawo ephephile.