Ukuntuleka Kokuzimela Komzimba (Primary Immunodeficiency): Izimpawu, Izimbangela, Nokwelashwa

Ukuntuleka kokuzimela komzimba kwenzeka lapho isimo sakho sokuzimela singasebenzi kahle kusukela ekuzalweni ngenxa yenguquko yezakhiwo ze-genetic. Cabanga ngesimo sakho sokuzimela njengabaqaphi beqembu lomzimba wakho - uma une-primary immunodeficiency, amanye amalungu eqembu ayaphelelwa noma awakwazi ukwenza umsebenzi wawo ngokuphumelelayo. Lokhu kukwenza ube nethuba elikhulu lokutheleleka okutholakala kalula kwabanye kodwa kungaba nzima kuwe.

Lezi zimo zithinta abantu abangaba ngu-1 ku-1,200 emhlabeni jikelele, nakuba izimo eziningi zingabonakali iminyaka eminingi. Izindaba ezinhle ukuthi ngokunakekelwa kwemithi okufanele nokwelashwa, abantu abaningi abane-primary immunodeficiency bangaphila impilo egcwele, esebenzayo.

Ziyini izimpawu ze-Primary Immunodeficiency?

Uphawu olukhulu lokuntuleka kokuzimela komzimba ukuthola ukutheleleka kaningi, ngokukhulu, noma ezindaweni ezingavamile uma kuqhathaniswa nabanye abantu. Akuzona nje izifo ezivamile zokubanda abantu abazitholayo - kuyizifo ezibonakala zithathe isikhathi eside, zibuye kaningi, noma zithinte izingxenye zomzimba wakho ezingavamile ukutheleleka.

Nawa ama-symptom avamile ongawaqaphela:

• Ukutheleleka kwezitho zokuphefumula njenge-pneumonia, i-bronchitis, noma izifo zesinus
• Ukutheleleka kwesikhumba okulula ukulula noma okuqhubeka kubuyela
• Izinkinga zokugaya ukudla okuhlanganisa ukweluka okungapheli noma ukutheleleka kwesisu
• Izifo zezindlebe eziqhubeka kaningi
• Ukululama kancane ekulimala, eziqashini, noma ezilwelweni zokuthunga
• Ukuzizwa ukhathele noma ubuthakathaka isikhathi esiningi
• Ama-lymph nodes avuvukile angapheli

Abanye abantu nabo baye bahlangabezana nezimpawu ze-autoimmune, lapho isimo sabo sokuzimela sihlasele izingxenye ezempilo zomzimba wabo. Lokhu kungabonakala njengobunzima bezingxenye zomzimba, ukukhishwa kwesikhumba, noma izinkinga zezitho njengomthombo wakho noma izinso.

Ezimeni ezingavamile, ungathuthukisa ukutheleleka okungavamile okuvela emagcikeni angavamile ukugula abantu abaphilile. Lezi zifo ezitholakala kalula zingathinta amaphaphu akho, ubuchopho, noma ezinye izitho ezibalulekile futhi zivame ukudinga ukwelashwa okukhethekile.

Ziyini izinhlobo ze-Primary Immunodeficiency?

Kunezinhlobo ezingaphezu kuka-400 ze-primary immunodeficiency, ngayinye ithonya izingxenye ezahlukene zesimo sakho sokuzimela. Iningi liwela ezinhlotsheni ezinkulu eziningana ngokusekelwe ezingxenyeni zesimo sokuzimela ezingasebenzi kahle.

Izinhlobo ezivamile zihlanganisa:

• Ukuntuleka kwama-antibody: Umzimba wakho awenzi amaprotheni okuzimela okutholakala kalula okuthiwa ama-antibody
• Ukuntuleka kwama-T-cell: Amaseli egazi amhlophe akhethekile ahlela izimpendulo zokuzimela awasebenzi kahle
• Ukuntuleka kokuzimela okuhlanganisiwe: Womabili ama-antibody nama-T-cells athinteka
• Ukuntuleka kwama-complement: Amaprotheni asiza ama-antibody ukulwa nezifo ayaphelelwa
• I-Phagocyte disorders: Amaseli adla amagciwane abangela ubuhlungu awakwazi ukwenza umsebenzi wawo ngokuphumelelayo

Ezinye izibonelo ezaziwayo zihlanganisa i-Common Variable Immunodeficiency (CVID), ethinta ukukhiqizwa kwama-antibody, ne-Severe Combined Immunodeficiency (SCID), ethinta kokubili ama-antibody nama-T-cells. Uhlobo ngalunye lunephethini yalo yezimpawu nezindlela zokwelapha.

Yini ebangela i-Primary Immunodeficiency?

Ukuntuleka kokuzimela komzimba kubangelwa yinguquko yezakhiwo zakho ze-genetic ezithinta indlela isimo sakho sokuzimela esithuthuka futhi sisebenza ngayo. Lezi nguquko ze-genetic zikhona kusukela ekuzalweni, kungakho kubizwa ngokuthi "primary" - yinkinga enkulu, hhayi okuthile okubangelwa yisimo esinye noma ukwelashwa.

Izimo eziningi zenzeka ngenxa ye-mutations ezakhiweni ezizodwa ze-gene eziqondisa imisebenzi ebalulekile yesimo sokuzimela. Lezi mutations zingadluliselwa kubazali bakho noma zenzeke ngokungaqondakali ngesikhathi sokuthuthuka kwasekuqaleni.

Iphethini yokudluliselwa iyashintsha kuye ngesimo esithile:

• X-linked: Uguquko lwe-gene lulokhu ku-chromosome ye-X, ngakho-ke luthinta ikakhulukazi abafana
• Autosomal recessive: Udinga amakhophi amabili e-gene eguqukile, elinye elivela kumzali ngamunye
• Autosomal dominant: Udinga ikhophi elilodwa kuphela le-gene eguqukile ukuze ube nesimo

Ngezinye izikhathi, uguquko lwe-genetic lwenzeka okokuqala kuwe, okusho ukuthi abazali bakho abanalo leli simo kodwa wena unalo. Lokhu kubizwa ngokuthi i-de novo noma i-spontaneous mutation.

Nini okufanele ubheke udokotela nge-Primary Immunodeficiency?

Kufanele ukhulume nodokotela wakho uma uthola ukutheleleka kaningi kunokuvamile kuwe. Qaphela izibonelo - ingabe uthola i-pneumonia unyaka ngamunye, noma izilonda ezilula zithatha amasonto ukululama?

Funani ukunakekelwa kwezokwelapha uma uhlangabezana nalokhu okulandelayo:

• Izifo zezindlebe ezingaphezu kwe-4 ngonyaka
• Izifo zesinus ezimbili noma ngaphezulu ngonyaka
• I-pneumonia emibili noma ngaphezulu ngonyaka
• Ukutheleleka okungaphenduli ekwelapheni okuvamile kwe-antibiotic
• Ukutheleleka okungavamile noma ukutheleleka ezindaweni ezingavamile
• Umlando womndeni we-primary immunodeficiency

Ungalindi uma uthuthukisa izimpawu ezinkulu njengokuphefumula okuthandekayo, ubushushu obukhulu obungapheli, noma izimpawu zokutheleleka okukhulu. Lezi zimo zidinga ukunakekelwa kwezokwelapha ngokushesha.

Uma ukhathazekile ngezibonelo zakho zokutheleleka, qala ngokukhuluma nodokotela wakho oyinhloko. Bangahlola izimpawu zakho futhi bakubheke kwingcweti yezokwelapha (ingcweti yezifo zesimo sokuzimela) uma kudingeka.

Ziyini izici ezingaholela e-Primary Immunodeficiency?

I-risk factor enkulu kakhulu ye-primary immunodeficiency ukuba namalungu omndeni aneli simo. Njengoba lezi zingizo ze-genetic, zingadluliselwa emindenini, nakuba iphethini yokudluliselwa iyashintsha.

Ezinye izici ezikhuphula amathuba akho zihlanganisa:

• Ukuba owesilisa (ezinye izinhlobo zivame kakhulu kubafana ngenxa yokudluliselwa kwe-X-linked)
• Ukuba nabazali abahlobene (kukhulukazi amathuba ezimo ze-genetic recessive)
• Ukuba yingxenye yezinye izigaba zabantu lapho uguquko oluthile lwe-genetic luvame kakhulu khona
• Ukuba nezinye izimo ze-genetic ezithinta ukuthuthuka kwesimo sokuzimela

Kubalulekile ukuqonda ukuthi awukwazi ukuvimbela i-primary immunodeficiency ngokushintsha indlela yakho yokuphila njengoba ibekwe izakhiwo zakho ze-genetic. Noma kunjalo, ukwazi umlando womndeni wakho kungasiza odokotela ukuthi baqaphele izimpawu ngokushesha futhi baqale ukwelashwa ngokushesha.

Ziyini izinhlanganisela ezingaba khona ze-Primary Immunodeficiency?

Uma i-primary immunodeficiency ingalawulwa kahle, ingabangela izinhlanganisela ezinkulu ezithinta izingxenye eziningi zomzimba wakho. Ukukhathazeka okukhulu ukuthi ukutheleleka kungaba nzima kakhulu futhi kusabalale ezithweni ezibalulekile.

Izinhlanganisela ezivamile zihlanganisa:

• Ukutheleleka kwamaphaphu okungapheli okungalimaza amaphaphu unomphela
• Ukutheleleka kwesisu esibangela ukungondliwa kahle nokwehla kwesisindo
• Uklimaza isibindi noma izinso ngenxa yokutheleleka okuphindaphindayo
• Izimo ze-autoimmune lapho isimo sakho sokuzimela sihlasele izicubu ezempilo
• Ukuthuthukisa amathuba okuba nomdlavuza othile, ikakhulukazi i-lymphomas
• Izinkinga zokukhula kubantwana ngenxa yesifo esingapheli

Abanye abantu bathuthukisa i-bronchiectasis, isimo lapho izindlela zokuphefumula zephaphu zikhula futhi zilimele unomphela ngenxa yokutheleleka okuphindaphindayo. Lokhu kungenza ukuphefumula kube nzima futhi kudinge ukwelashwa okuqhubekayo.

Ezimeni ezingavamile, izinhlobo ezinkulu ze-primary immunodeficiency zingaba yingozi uma zingelashwa ngokushesha. Noma kunjalo, ngokunakekelwa kwemithi okufanele nokubhekwa, izinhlanganisela eziningi zingavikelwa noma ziphathwe kahle.

I-Primary Immunodeficiency ihlonishwa kanjani?

Ukuhlonishwa kwe-primary immunodeficiency kuvame ukuqala ngodokotela wakho ebuza imibuzo eminingilizi mayelana nomlando wakho wokutheleleka nomlando womndeni wakho wezokwelapha. Bazofuna ukwazi ngezinhlobo, ubukhulu, nobunzima bezifo obuzitholile.

Udokotela wakho cishe uzokwenza izivivinyo zegazi ukuhlola izingxenye ezahlukene zesimo sakho sokuzimela:

• Ukuhlanganiswa kwegazi okugcwele ukuhlola amazinga amaseli egazi amhlophe
• Amazinga e-immunoglobulin ukuqapha ama-antibody okuzimela
• Izivivinyo zokutholakala kwama-antibody ukubona ukuthi uphendula kangcono kanjani ezitsheni
• Ukuhlanganiswa kwama-T-cell nama-B-cell kanye nezivivinyo zomsebenzi
• Amazinga e-complement ukuhlola lawa maprotheni abalulekile okuzimela

Uma izivivinyo zokuqala zikhomba inkinga, udokotela wakho angakuncoma ukuhlolwa kwe-genetic ukuthola uguquko oluthile lwe-gene oluholela esimweni sakho. Lokhu kungasiza ekuqondeni uhlobo oluqondile lwe-primary immunodeficiency onayo.

Ngezinye izikhathi odokotela nabo baye bahlole amalungu omndeni ukuqonda iphethini yokudluliselwa nokuthola abanye abangase bathinteke. Inqubo yokuhlola ingathatha isikhathi, kodwa ukuthola ukuxilongwa okuqondile kubalulekile ekwelapheni okufanele.

Yini ukwelashwa kwe-Primary Immunodeficiency?

Ukwelashwa kwe-primary immunodeficiency kugxile ekuvimbeleni ukutheleleka nokufaka izingxenye zesimo sokuzimela esiphelelwe. Ukwelashwa okuthile kuncike kuhlobo lwe-immunodeficiency onayo nokuthi lukuthinta kangakanani.

Izindlela zokwelapha eziyinhloko zihlanganisa:

• Ukwelashwa kokufakwa kwe-immunoglobulin: Ukufakwa okuvamile kwama-antibody okuvela kubanikazi abaphilile
• Ama-antibiotic okuvimbela: Imithi yansuku zonke ukuvimbela ukutheleleka kwamabhaktheriya
• Imithi ye-antifungal: Ukuvimbela ukutheleleka kwe-fungal kwezinye izimo
• Ukwelashwa kwe-Interferon: Kwezinye izinhlobo ze-immunodeficiency
• Ukuhlinzwa komgogodla wamathambo: Kwezinye izimo ezinkulu ezhlanganisiwe ze-immunodeficiency
• Ukwelashwa lwe-gene: Indlela entsha yokwelapha ezinye izimo

Ukwelashwa kwe-immunoglobulin kuyindlela evamile yokwelapha ukuntuleka kwama-antibody. Uzothola le mifakwa ngomqondo (IVIG) noma ngaphansi kwesikhumba (SCIG) njalo ngemva kwamasonto ambalwa. Abantu abaningi bathola ukuthi lokhu kwelashwa kunciphisa kakhulu izinga lokutheleleka kwabo.

Kwezimo ezinkulu, ukuhlinzwa komgogodla wamathambo kungase kululame isimo ngokufaka isimo sakho sokuzimela esilimele ngesimpilo esiphilile esivela kunikazi. Noma kunjalo, lokhu kunezingozi ezinkulu futhi kuvame ukugcinelwa izimo ezibulalayo.

Ungawuthatha kanjani ukwelashwa ekhaya ngesikhathi se-Primary Immunodeficiency?

Ukuphatha i-primary immunodeficiency ekhaya kuhilela ukwenza izinyathelo zokugwema ukutheleleka ngenkathi ugcina impilo evamile ngangokunokwenzeka. Imikhuba emihle yokuhlanzeka iba yibaluleke kakhulu lapho isimo sakho sokuzimela sidinga usizo olwengeziwe.

Nawa amasu abalulekile okunakekelwa ekhaya:

• Geza izandla zakho njalo ngesepu namanzi okungenani imizuzwana engu-20
• Gwema izindawo ezihlanganayo ngesikhathi sesizini ye-flu noma izifo ezisabalayo
• Gcina zonke izitshe ezinconywayo (kodwa gwema izitshe eziphilayo)
• Dla ukudla okunomsoco ukuze usekele impilo yakho yonke
• Thola ukulala okwanele ukuze usize isimo sakho sokuzimela sisebenze kangcono
• Hlala unamanzi ngokunisela amanzi amaningi
• Gwema abantu abagulayo uma kungenzeka

Uma uthola ukwelashwa kwe-immunoglobulin ekhaya, qiniseka ukuthi uqonda izindlela ezifanele zokugcoba nezidingo zokugcina. Gcina i-thermometer eduze futhi wazi ukuthi nini okufanele ubhale udokotela wakho ngobushushu noma ezinye izimpawu.

Dala uhlelo lokusebenza neqembu lakho lokunakekelwa kwezokwelapha lokuphatha ukutheleleka ngokushesha. Lokhu kungase kuhlanganise ukuba nama-antibiotic esandleni noma ukwazi ukuthi nini okufanele ufunane ukunakekelwa kwezokwelapha ngokushesha.

Kufanele uzilungiselele kanjani i-appointment yakho nodokotela?

Ukulungiselela kahle i-appointment yakho kusiza udokotela wakho ukuthi aqonde isimo sakho kangcono futhi enze kakhulu isikhathi sakho sokuhlangana. Qala ngokubhala phansi umlando wakho wokutheleleka ngokugcwele ngangokunokwenzeka.

Letha ulwazi olulandelayo:

• Uhlu lwezifo zonke obuzitholile, kuhlanganise nezinsuku nokwelashwa
• Imithi namasuplimenti obusebenzisa manje
• Umlando womndeni wezokwelapha, ikakhulukazi izinkinga zesimo sokuzimela
• Imibuzo mayelana nesimo sakho nezindlela zokwelapha
• Imiphumela yokuvivinya yamuva noma amarekhodi ezokwelapha
• Ulwazi lwe-insurance namafomu okubhekisela uma kudingeka

Bhala phansi imibuzo yakho ebaluleke kakhulu kuqala, njengoba ama-appointment angase azizwe eshesha. Unganqikazi ukubuza nganoma yini ekukhathazayo, kuhlanganise nemiphumela emibi yokwelashwa noma ukushintsha indlela yokuphila.

Cabanga ukuletha ilungu lomndeni noma umngani ongakusiza ukuba ukhumbule ulwazi oluxoxwe ngesikhathi se-appointment. Bangakwazi futhi ukukunikeza ukwesekwa ngokomzwelo ngesikhathi esingase sibe yisikhathi esinzima.

Yini okufanele uyikhumbule mayelana ne-Primary Immunodeficiency?

I-primary immunodeficiency isimo esilawuleka uma sihlonishwa futhi silashwa kahle. Nakuba kusho ukuthi isimo sakho sokuzimela sidinga ukwesekwa okwengeziwe, abantu abaningi abanezi zimo bangaphila impilo egcwele, esebenzayo ngokunakekelwa kwemithi okufanele.

Into ebaluleke kakhulu ukuqaphela iphethini yokutheleleka okuvamile noma okukhulu nokufuna ukuxilongwa kwezokwelapha. Ukuxilongwa okusheshayo nokwelashwa kungavimbela izinhlanganisela ezinkulu futhi kuthuthukise ikhwalithi yakho yokuphila kakhulu.

Khumbula ukuthi ukuba ne-primary immunodeficiency akusho ukuthi ubuthakathaka noma udinga ukuhlala uwedwa. Ngokuqapha okufanele nokuphathwa kwezokwelapha, ungasebenza, uhambe, ube nobudlelwano, futhi ulandele imigomo yakho njenganoma ubani.

Hlala uxhumene neqembu lakho lokunakekelwa kwezokwelapha, landela uhlelo lwakho lokwelashwa, futhi unganqikazi ukuxhumana lapho unezinkinga. Iqembu lakho lezokwelapha likhona ukukusekela ekuphatheni leli simo kahle.

Imibuzo evamile mayelana ne-Primary Immunodeficiency

Ingabe i-primary immunodeficiency ingalulama?

Izinhlobo eziningi ze-primary immunodeficiency azikwazi ukululama, kodwa zingaphathwa kahle ngokwelashwa okufanele. Ukuhlinzwa komgogodla wamathambo kungase kululame ezinye izimo ezinkulu, futhi ukwelashwa lwe-gene kubonisa ithemba kwezinye izimo. Noma kunjalo, abantu abaningi baphila impilo evamile ngokwelashwa okuqhubekayo kunokufuna ukululama.

Ingabe i-primary immunodeficiency iyadluliseka?

Cha, i-primary immunodeficiency ayidluliseki. Yisimo se-genetic ozalwa naso, hhayi okuthile ongakubamba kwabanye noma ukudlulisela kwabanye ngokuxhumana okuvamile. Noma kunjalo, abantu abane-primary immunodeficiency bangase babe nethuba elikhulu lokubamba izifo kwabanye.

Ngingaba nabantwana uma ngine-primary immunodeficiency?

Yebo, abantu abaningi abane-primary immunodeficiency bangaba nabantwana. Noma kunjalo, njengoba lezi zingizo ze-genetic, kunethuba lokudlulisela leli simo kubantwana bakho. Ukubonisana kwe-genetic kungakusiza ukuthi uqonde izingozi futhi uhlole izinketho njengokuvivinya i-genetic ngesikhathi sokukhulelwa.

Ingabe i-primary immunodeficiency yami izobe ibi kakhulu ngokuhamba kwesikhathi?

Lokhu kuncike kuhlobo oluthile lwe-primary immunodeficiency onayo. Ezinye izimo zihlala ziqina ngokuphila ngokwelashwa okufanele, kanti ezinye zingathuthuka noma zishintshe ngokuhamba kwesikhathi. Ukubhekwa okuvamile neqembu lakho lokunakekelwa kwezokwelapha kusiza ekuqapheni noma yikuphi ukushintsha nokwenza ukwelashwa kube ngcono uma kudingeka.

Ngingahamba yini uma ngine-primary immunodeficiency?

Yebo, abantu abaningi abane-primary immunodeficiency bahamba ngokuphepha ngokuhlela okufanele. Kuzodingeka uxhumane neqembu lakho lokunakekelwa kwezokwelapha mayelana nokuhlela ukwelashwa, ukuthwala imithi, nokwenza ukuqapha okwengeziwe ezindaweni ezithile. Ezinye izindawo zingase zidinga izitshe ezikhethekile noma ukuqapha.