Ubuthakathaka Bokugula Amathambo Okuqhubekayo? Izimpawu, Izimbangela, Nokwelashwa

Ubuthakathaka bokugula amathambo okuqhubekayo (CGD) yisimo esingavamile esidluliselwa ngezofu, lapho uhlelo lwakho lokulwa nezifo lungakwazi ukulwa nezifo ezithile kahle. Cabanga ngakho njengokuba neziqaphi ezingakwazi ukwenza umsebenzi wazo ngokuphelele - zingabamba abangena ngaphandle abanye kodwa ziphuthe abanye, zikushiye ukhona kakhulu kubhaktheriya nezibhebhe ezithile.

Lesi simo sithinta indlela amangqamuzana omhlophe egazi akho asebenza ngayo, ikakhulukazi amangqamuzana abizwa ngokuthi yi-phagocytes. La mangqamuzana kufanele abulale amagerm ngokukhiqiza amakhemikhali anamandla, kodwa ku-CGD, le nqubo ayisebenzi kahle. Nakuba lokhu kuzwakala kukhulu, abantu abaningi abane-CGD baphila impilo egcwele, esebenzayo ngokunakekelwa komtholampilo okufanele nokwelashwa.

Ziyini izimpawu zobuthakathaka bokugula amathambo okuqhubekayo?

Izimpawu ze-CGD zivame ukuvela ebuntwaneni obuqalayo, nakuba abanye abantu bangatholakali kuze kube yilapho bekhula noma ngisho nasebudaleni. Uphawu olukhulu ukuba nezifo ezivame kakhulu, ezinzima, ezibukeka zinzima ukususa kunokugula okuvamile kwabantwana.

Nawa ama-symptom avamile ongawaqaphela:

• Ukutheleleka kwemisipha noma i-pneumonia ebuya njalo
• Ukutheleleka kwesikhumba, ama-abscesses, noma izilonda eziphulukisayo kancane
• Ama-lymph nodes avuvukile ahlala amakhulu amasonto
• Ukhukhula oluqhubekayo noma izinkinga zesisu
• Ama-abscesses esibindini noma ukutheleleka
• Ukutheleleka kwama-bone okubangela ubuhlungu nokuvuvukala
• Amathambo avame kakhulu ngaphandle kwesizathu esicacile

Abanye abantu baphuthuma ama-granulomas - amaqembu amancane amangqamuzana okulwa nezifo aqala lapho umzimba uzama ukulwa nokutheleleka. Lokhu kungavinjelwa izitho ezifana nesisu, ama-intestines, noma indlela yokukhishwa kwamathumbu, kubangele izimpawu ezengeziwe ezifana nobunzima bokudla noma ukuya esikhumulweni.

Kwezinye izimo ezingavamile, i-CGD ingabangela ukuphazamiseka okukhulu okufana nama-abscesses ebuchosheni noma ukutheleleka kwenhliziyo. Nakuba lokhu kuzwakala kukhulu, akuvamile futhi kuphatheka uma kubanjwe ngokushesha ngokunakekelwa komtholampilo okufanele.

Yini ebangela ubuthakathaka bokugula amathambo okuqhubekayo?

I-CGD yenzeka ngenxa yokushintsha (ukuguqulwa) ku-genes okulawula indlela amangqamuzana akho okulwa nezifo asebenza ngayo. Lezi zinguquko ze-genetic zivimbela amangqamuzana omhlophe egazi akho ukwenza i-enzyme complex ebizwa ngokuthi yi-NADPH oxidase, ebalulekile ekubulaleni amagerm athile.

Izimo eziningi ze-CGD zidluliselwa ngezofu, okusho ukuthi isimo sidluliselwa kubazali kubantwana. Uhlobo oluvamile kakhulu luthinta abafana kakhulu kunamantombazane ngoba i-gene ephosakeleyo ihlala ku-chromosome ye-X. Abafana bane-chromosome eyodwa ye-X, ngakho uma iphethe ukuguqulwa, bayoba ne-CGD.

Amantombazane anama-chromosome amabili e-X, ngakho ngisho noma enye iphethe ukuguqulwa, enye enempilo ivame ukunikeza isivikelo esanele. Noma kunjalo, amantombazane angaba ngabaphathi futhi angaba nezimpawu ezilula ngezinye izikhathi.

Kukhona nezinhlobo ezingavamile ze-CGD ezingathinta abafana namantombazane ngokulinganayo. Lokhu kwenzeka lapho ukuguqulwa kwenzeka ku-genes eziku-chromosomes ezinye. Kwezinye izimo ezingavamile, i-CGD ingathuthuka ngaphandle komlando womndeni ngenxa yokushintsha okusha kwe-genetic.

Ziyini izinhlobo zobuthakathaka bokugula amathambo okuqhubekayo?

Odokotela bahlukanisa i-CGD ngokusekelwe ku-gene ethile ethintekile nendlela isimo sidluliselwa ngayo. Ukuqonda uhlobo lwakho kusiza iqembu lakho lokunakekelwa komtholampilo ukukhetha indlela yokwelapha engcono kakhulu.

Uhlobo oluvamile kakhulu yi-X-linked CGD, emele cishe ama-65% azo zonke izimo. Lolu hlobo luthinta ikakhulu abafana futhi luvame ukubangela izimpawu ezinzima kakhulu. Abafana abane-X-linked CGD bavame ukuba nokutheleleka kwabo okuqala okunzima ngaphambi kokuba babe neminyaka emi-2.

I-Autosomal recessive CGD yenza izimo ezisele futhi ithonya abafana namantombazane ngokulinganayo. Lolu hlobo luvame ukuba nezimpawu ezilula futhi lungase lungatholakali kuze kube kamuva ebuntwaneni noma ngisho nasebudaleni. Abantu abalolu hlobo bangaba nokutheleleka okuncane noma ukuphazamiseka okuncane.

Phakathi kwalezi zigaba eziyinhloko, kunezinhlobo eziningi ezihlukene ngokusekelwe kwingxenye ethile yesistimu ye-NADPH oxidase engasebenzi kahle. Udokotela wakho angakwazi ukuqonda uhlobo lwakho oluthile ngokuhlolwa kwe-genetic, okusiza ukubikezela ukuthi yiziphi izifo ozivame ukuthola futhi iholele ezindleleni zokuvimbela.

Nini okufanele ubona udokotela ngenxa yobuthakathaka bokugula amathambo okuqhubekayo?

Kufanele uxhumane nodokotela wakho uma uqaphela iphethini yokutheleleka okuvamile, okunzima, noma okungavamile. Nakuba wonke umntwana egula ngezinye izikhathi, ukutheleleka kwe-CGD kuvame ukuba nzima futhi kunzima ukwelapha kunokugula okuvamile kwabantwana.

Funani ukunakekelwa komtholampilo ngokushesha uma uhlangabezana ne-pneumonia ephindaphindayo, ama-abscesses esikhumba angaphuli ngokwelashwa okuvamile, noma amathambo aqhubekayo ngaphandle kwesizathu esicacile. Lokhu kungaba izimpawu zokuthi uhlelo lwakho lokulwa nezifo ludingani ukwesekwa okwengeziwe.

Uma unomlando womndeni we-CGD noma ukutheleleka okungavamile, khuluma nohlinzeki wakho wezinsizakalo zezempilo. Ukuxilongwa kwasekuqaleni nokwelashwa kwenza umehluko omkhulu ekuvimbeleni ukuphazamiseka okunzima nokukusiza uhlale uphilile.

Kubantu abase bexilongwe nge-CGD, shayela udokotela wakho ngokushesha uma uthuthukisa izimpawu ezintsha ezifana nobuhlungu obukhulu besisu, ubunzima bokuqeda umoya, ukugabha okuqhubekayo, noma noma yiziphi izimpawu zokutheleleka. Ukwelashwa okusheshayo kungavimbela izinkinga ezincane ezingaba yizinkinga ezinkulu.

Ziyini izimbangela zengozi zobuthakathaka bokugula amathambo okuqhubekayo?

Imbangela enkulu ye-CGD ukuba nayo emndenini wakho. Njengoba lokhu kuyisimo esidluliselwa ngezofu, ingozi yakho ixhomeke kakhulu emlandweni we-genetic womndeni wakho.

Nawa okuthinta amathuba akho okuba ne-CGD:

• Ukuba nomzali ophethe ukuguqulwa kwe-CGD gene
• Ukuba yindoda (ngohlobo oluvamile kakhulu lwe-X-linked)
• Ukuba nomlando womndeni wokutheleleka okuvamile, okunzima
• Ukuba nezihlobo ezashona zisezincani ngenxa yokutheleleka
• Abazali abahlobene (bandisa ingozi yezinhlobo ze-autosomal recessive)

Ngokungafani nezinye izimo zezempilo, i-CGD ayithintiwe yizinto ezithinta indlela yokuphila ezifana nokudla, ukuzivocavoca, noma ukukhishwa komkhathi. Awukwazi ukuvimbela noma ukubangela i-CGD ngezenzo zakho - iyona nje i-genetic.

Uma uhlela umndeni futhi une-CGD emlandweni womndeni wakho, ukwelulekwa kwe-genetic kungakusiza ukuqonda izingozi nezinketho. Lolu lwazi lukusiza ukwenza izinqumo ezinolwazi mayelana nohlelo lomndeni.

Ziyini izinkinga ezingase zenzeke ngenxa yobuthakathaka bokugula amathambo okuqhubekayo?

Nakuba izinkinga ze-CGD zizwakala zinzima, khumbula ukuthi eziningi zingavimbeka noma ziphathwe kahle ngokunakekelwa komtholampilo okufanele. Ikhona ukulandela uhlelo lwakho lokwelapha nokusebenzisana eduze neqembu lakho lezinsizakalo zezempilo.

Izinkinga ezivamile kakhulu zihlanganisa:

• Ukutheleleka okunzima kwemisipha okungabangela ukungcola
• Ama-abscesses esibindini angadinga ukususwa
• Ama-granulomas avimba isisu, ama-intestines, noma indlela yokukhishwa kwamathumbu
• Ukhukhula oluqhubekayo nokukhula okubi kwesisindo
• Ukutheleleka kwama-bone namajoyinti
• Ukutheleleka kwesikhumba nezilonda eziphulukisayo kancane

Izinkinga ezingavamile kodwa ezinzima kakhulu zingabandakanya ama-abscesses ebuchosheni, ukutheleleka kwenhliziyo, noma ukuvuvukala okunzima kwama-intestines. Nakuba lokhu kuzwakala kukhulu, kuyavamile uma i-CGD ilawulwa kahle ngama-antibiotics okuvimbela nokubhekwa komtholampilo okuvamile.

Abanye abantu abane-CGD baphuthuma nezinkinga ze-autoimmune, lapho uhlelo lokulwa nezifo luhlasela izicubu zomzimba ezempilo. Lokhu kungabangela izimo ezifana nesifo sokuvuvukala sama-intestines noma i-arthritis. Iqembu lakho lezokwelapha lizobaqaphela le mibuzo futhi liwaphathe uma evela.

Ubuthakathaka bokugula amathambo okuqhubekayo buxilongwa kanjani?

Ukuxilongwa kwe-CGD kuqala ngodokotela wakho oqaphela iphethini yokutheleleka okungavamile noma okuvamile. Bayobuza imibuzo eningiliziwe mayelana nomlando wakho wezokwelapha nanoma yimiphi imilandu yomndeni yezinkinga zokulwa nezifo noma ukufa kwasekuqaleni ngenxa yokutheleleka.

Ivivinyo eliyinhloko le-CGD libizwa ngokuthi yi-dihydrorhodamine (DHR) test. Lolu hlolo lwegazi luqapha ukuthi amangqamuzana omhlophe egazi akho angawabulala kangcono kangakanani amagerm. Kubantu abane-CGD, lolu hlolo lubonisa ukuthi amangqamuzana awasebenzi kahle.

Udokotela wakho angase futhi ahlele ukuhlolwa kwe-genetic ukuqinisekisa ukuxilongwa nokuqonda ukuthi yiluphi uhlobo lwe-CGD olukhona. Lokhu kuhilela ukuhlaziya i-DNA yakho ukuthola ukuguqulwa kwe-gene okuthile okubangela isimo.

Izivivinyo ezengeziwe zingabandakanya amasiko ezindawo ezithintekile ukuqonda ukuthi yiziphi amagerm athile abangela izinkinga. Lokhu kusiza iqembu lakho lezokwelapha ukukhetha ama-antibiotics nama-antifungal medication asebenzayo kakhulu esimweni sakho.

Yikuphi ukwelashwa kobuthakathaka bokugula amathambo okuqhubekayo?

Ukuphathwa kwe-CGD kugxile ekuvimbeleni ukutheleleka nokukwelapha ngokushesha lapho kwenzeka. Nakuba ayikho indlela yokwelapha isimo se-genetic esiyisisekelo, ukwelashwa okuhle kusiza abantu abaningi abane-CGD ukuba baphile impilo evamile, enempilo.

Itshe lekhona lokwelapha i-CGD ukusebenzisa ama-antibiotics okuvimbela nsuku zonke. Abantu abaningi basebenzisa i-trimethoprim-sulfamethoxazole (ebizwa nangokuthi yi-Bactrim noma i-Septra) ukuvimbela ukutheleleka ngamabhaktheriya. Uzodinga futhi ukusebenzisa i-antifungal medication efana ne-itraconazole ukuvimbela ukutheleleka ngezibhebhe.

Abantu abaningi bathola ukugonywa kwe-interferon gamma, okuvamile ukunikwa kathathu ngesonto. Lolu welashwa lusiza ukukhulisa amandla ohlelo lwakho lokulwa nezifo lokulwa nokutheleleka. Nakuba ukuzigcoba ngezibopho kuzwakala kukhulu, abantu abaningi bayajwayela ngokushesha.

Lapho ukutheleleka kwenzeka, kuphathwa ngamandla ngama-antibiotics noma ama-antifungal medication. Ungase udinga ukuhlala esibhedlela ukuze uthole ama-medication e-intravenous, ikakhulukazi ngokutheleleka okunzima njenge-pneumonia noma ama-abscesses esibindini.

Kwezinye izimo ezinzima, odokotela bangase bancome ukutshalwa kwe-bone marrow (okubizwa nangokuthi yi-stem cell transplant). Le nqubo ingase iphulukise i-CGD ngokushintsha amangqamuzana akho okulwa nezifo angasebenzi kahle ngamangqamuzana anempilo asuka kumnikelo. Noma kunjalo, ukutshalwa kwezinto kubangela izingozi ezinkulu futhi akuwona wonke umuntu ofanele.

Ungalawula kanjani ubuthakathaka bokugula amathambo okuqhubekayo ekhaya?

Ukuphila kahle ne-CGD kusho ukuthatha indima ephambili ekuvimbeleni ukutheleleka ngenkathi ugcina impilo evamile ngangokunokwenzeka. Abantu abaningi abane-CGD bangaya esikoleni, basebenze, bazivocavoce, futhi bajabulele imisebenzi evamile ngezinye izinyathelo ezilula.

Thatha imithi yakho ngokunembile njengoba kuqokiwe, ngisho nalapho uzizwa uphilile ngokuphelele. Ukweqa ama-antibiotics okuvimbela noma ama-antifungal medication kukhuphula kakhulu ingozi yokutheleleka. Yenza izinhlelo ezifana nabalungisi bephethini noma izikhumbuzo zefoni ukukusiza uhlale uqine.

Sebenzisa ukuhlanzeka okuhle ngokuhlanza izandla zakho njalo futhi ngokuphelele. Gwema imisebenzi engase ikufaka engcupheni yamabhaktheriya noma izibhebhe eziningi, njengokulima ngaphandle kwezandla, ukuhlanza ukhukhula lwamasilwane, noma ukugeza ezihlahleni noma ezihlanzini ezishisayo.

Gcina indawo yakho ihlanzekile kodwa ungabi nomlutha ngakho. Ukuhlanza kwekhaya okuvamile kwanele - awudingi ukuhlala ebhubheni elihlanzekile. Gxila ezindaweni lapho amagerm avame ukuqoqana khona, ezindaweni zangasese nasezikhitshini.

Hlala ubuyekeza ngazo zonke izigonyo ezinconyiwe, kodwa gwema izigonyo eziphilayo ngaphandle uma udokotela wakho evuma ngokukhethekile. Uhlelo lwakho lokulwa nezifo lungase lungakwazi ukusingatha izigonyo eziphilayo ngokuphephile, ngakho iqembu lakho lezokwelapha lizokuqondisa mayelana nokuthi yiziphi izigonyo ezifanele.

Kufanele ulungiselele kanjani i-appointment yakho yodokotela?

Ukulungiselela ama-appointment akho e-CGD kusiza ukuqinisekisa ukuthi uthola okuningi ngesikhathi sakho neqembu lakho lezinsizakalo zezempilo. Woza ulungele ukuxoxa nganoma yiziphi izimpawu ezintsha, ukukhathazeka ngemithi, noma imibuzo mayelana nokulawula isimo sakho.

Gcina idayari yesimpawu uqaphele noma yimaphi amathambo, ukutheleleka, noma izimpawu ezingavamile kusukela ekuhambeni kwakho kokugcina. Faka imininingwane efana nokuthi izimpawu zaqala nini, zazide nini, nokuthi yikuphi ukwelashwa okusisize. Lolu lwazi lusiza udokotela wakho ukubona ama-patterns nokulungisa ukwelashwa kwakho uma kudingeka.

Letha uhlu oluphelele lwazo zonke imithi oyithathayo, kufaka phakathi izilinganiso ezichwepheshile nokuthi uyayithatha kangakanani. Khuluma futhi nganoma yiziphi izongezo, imithi yokuthengwa ngaphandle kwesikripthi, noma imithi yemifino oyisebenzisayo, njengoba lezi zingase zithinte imithi yakho ye-CGD.

Bhala imibuzo ngaphambi kwe-appointment yakho ukuze ungakhohlwa lutho olukhulu. Imibuzo evamile ingabandakanya ukukhathazeka ngezimpawu ezintsha, imiphumela emibi yemithi, ukulinganiselwa kwemisebenzi, noma ukuthi yini okufanele uyenzani uma ugula.

Uma ubona udokotela omusha noma ochwepheshe, letha amakhophi emiphumela yokuvivinya yakamuva, amarekhodi esibhedlela, nesifinyezo somlando wakho we-CGD. Lolu lwazi lwesizinda lusiza abahlinzeki abasha ukuqonda isimo sakho esithile nokwenza izinqumo zokwelapha ezingcono kakhulu.

Yikuphi ukukhumbula okubalulekile ngobuthakathaka bokugula amathambo okuqhubekayo?

I-CGD iyisimo esinzima kodwa esilawuleka esidinga ukunakekelwa komtholampilo okuqhubekayo nokunakekelwa ekuvimbeleni. Nakuba ukuxilongwa kungase kuzwakale kukhulu, khumbula ukuthi ukwelashwa kuye kwaqhubeka kakhulu eminyakeni edlule, futhi abantu abaningi abane-CGD bangaphila impilo egcwele, esebenzayo.

Into ebaluleke kakhulu ongayenza ukusebenzisa imithi yakho okuvimbela njalo nokusebenzisana eduze neqembu lakho lezinsizakalo zezempilo. Lolu hlobo lokusebenzisana lusiza ukubamba izinkinga ngokushesha futhi kukugcina uphilile ngangokunokwenzeka.

Ungavumeli i-CGD ikucacisele noma ikunciphise ngokungadingekile. Ngokuqapha okufanele nokukhathalelwa komtholampilo, ungalandela imfundo, imigomo yomsebenzi, ubuhlobo, nezinhlangano njenganoma ubani omunye. Ikhona ukufumana ibhalansi efanele phakathi kokuba oqaphile ngokufanele nokuphila ngokugcwele.

Hlala uxhumene namaqembu asekelayo noma izikhungo eziku-inthanethi zabantu abane-CGD nemindeni yabo. Ukwabelana ngamava nabanye abaqonda izinselele zakho kungakunikeza amathiphu asebenzayo nokusekela ngokomzwelo okwenza umehluko wangempela ekuphileni kwakho kwansuku zonke.

Imibuzo evame ukubuzwa ngobuthakathaka bokugula amathambo okuqhubekayo

Ingabe abantu abane-CGD bangaphila isikhathi eside esivamile?

Yebo, abantu abaningi abane-CGD bangaphila isikhathi eside esivamile noma esisondelene nesivamile ngokunakekelwa komtholampilo okufanele. Ukuxilongwa kwasekuqaleni nokuphathwa okuqhubekayo ngemithi okuvimbela kuye kwaqhubeka kakhulu imiphumela. Nakuba i-CGD idinga ukuphathwa komtholampilo okuqhubekayo, abantu abaningi bangalandela imfundo, imisebenzi, ubuhlobo, kanye nempilo yomndeni ngempumelelo.

Ingabe i-CGD iyadluliselwa?

Cha, i-CGD ngokwayo ayidluliselwa nhlobo. Yisimo se-genetic ozalwa naso, hhayi into ongayithola noma uyinikeze abanye abantu. Noma kunjalo, abantu abane-CGD banesifo esikhulu sezifo ezithile, ngakho kudingeka baqaphele ngabanye abagulayo ukuze bazivimbele.

Ingabe abesifazane abane-CGD bangaba nabantwana?

Yebo, abesifazane abane-CGD bangaba nabantwana, nakuba ukukhulelwa kudinga ukubhekwa komtholampilo okucophelelayo. Izinto eziyinhloko ezicatshangelwayo ukuphatha imithi ngesikhathi sokukhulelwa nokuqonda izingozi ze-genetic ngomntwana. Ukwelulekwa kwe-genetic ngaphambi kokukhulelwa kusiza imindeni ukuqonda ama-patterns okudluliselwa nokuthatha izinqumo ezinolwazi.

Yiziphi izifo abantu abane-CGD abazivame ukuthola?

Abantu abane-CGD banesifo esikhulu sokutheleleka ngamabhaktheriya afana ne-Staphylococcus, i-Serratia, ne-Burkholderia, kanye nezibhebhe ezifana ne-Aspergillus ne-Candida. Lezi zinto ziphila ngezici ezikhethekile ezenza kube nzima ohlelweni lokulwa nezifo lwe-CGD ukulwa nazo. Noma kunjalo, imithi okuvimbela inciphise kakhulu ingozi yalezi zifo.

Ingabe i-CGD ingaphulile?

Okwamanje, ukutshalwa kwe-bone marrow yiyona kuphela indlela yokwelapha i-CGD, kodwa akuwona wonke umuntu ofanele ngenxa yezingozi ezihilelekile. Abantu abaningi baphatha i-CGD ngempumelelo ngemithi okuvimbela nokubhekwa okucophelelayo. Ucwaningo lwe-gene therapy lubonisa ithemba ngekusasa, kodwa lezi zindlela zokwelapha zisasezingeni lokuvivinya futhi azitholakali kakhulu okwamanje.