Ukutheleleka okukhulu okuvamile: Ingabe kufanele siqaphele lesi simo esingavamile (Isifo Esingamahlalakhona Se-Granulomatous - CGD)?

Ingabe ingane yakho encane iyagula ngaso sonke isikhathi? Lapho isifo esisodwa siba ngcono, kuvela esinye. Ingabe ngezinye izikhathi iba nokutheleleka okukhulu esikhumbeni, emaphashini, noma ngisho nangaphakathi emzimbeni? Abazali abaningi bakhathazekile ngezinkinga ezinjalo. Namuhla sizokhuluma ngesimo esingavamile kodwa esibalulekile sezakhi zofuzo esingabangela ukutheleleka okunjalo okuvamile. Lokhu sikubiza ngokuthi i-Chronic Granulomatous Disease, noma i-CGD ngamafuphi phakathi kodokotela.

Kalula nje, iyini i-CGD?

Ukuze siqonde lokhu, ake siqale sixoxe kancane ngohlelo lokuzivikela lomzimba wethu. Cabanga ukuthi umzimba wethu ufana nezwe. Unebutho elikwaziyo ukuwuvikela ezitheni zakwamanye amazwe (amagciwane). Lelo uhlelo lwethu lokuzivikela . Ingxenye ekhethekile yaleli butho ibizwa ngokuthi amangqamuzana egazi amhlophe .

Manje, nakhu okwenzekayo kumuntu one-CGD. Kukhona iqembu elikhethekile lamaseli amhlophe egazi abizwa ngokuthi amasosha, isibonelo, `(ama-neutrophils)`, `(ama-monocytes)`, `(ama-macrophage)` kanye `(ama-eosinophils)`. Umsebenzi oyinhloko wala maseli ukuthola izinhlobo ezithile zamabhaktheriya nesikhunta ezingena emzimbeni, ziwabambe, bese ziwabhubhisa.

Kodwa kumuntu one-CGD, la masosha akhethekile, noma amangqamuzana amhlophe egazi, awakwazi ukusebenzisa izikhali zawo ngendlela efanele. Awakwazi ukwenza i-enzyme ekhethekile ayidingayo ukubulala lawo magciwane. Kufana nokuba nesibhamu kodwa kungabi nezinhlamvu. Pho kwenzekani? Amasosha ethu omzimba agcwele amandla, awakwazi ukulwa namagciwane athile kanye nesikhunta esingena emzimbeni.

Lezi zifo zivame ukwenzeka esikhumbeni, emaphashini, kuma-lymph node, nasesibindini . Zinamathuba amaningi okwakha amathumba , okuyizigaxa ezigcwele ubomvu ngaphakathi kwezitho zomzimba.

Lesi akusona isifo esivame kakhulu. Cishe umuntu oyedwa kwabayizigidi ezimbili nesigamu emhlabeni wonke uthola lesi sifo. Futhi, kutholakale ukuthi abafana banamathuba amaningi okusithola .

Yiziphi izimpawu eziboniswa umuntu one-CGD?

Izimpawu ze-CGD zivame ukuqala ebuntwaneni. Kodwa-ke, ngezinye izikhathi zingavela kunoma yimuphi ubudala. Uphawu oluyinhloko noluvame kakhulu ukutheleleka okunamandla kwamagciwane kanye nesikhunta okuphindaphindiwe.

Ake sibheke lezi zimpawu ukuze siziqonde kalula ukuthi ziyini.

Kungani le CGD yenzeka? Iyini imbangela?

Kalula nje, i-CGD iyisimo sofuzo.Lokho kusho ukuthi lokhu kuyinto esiyizuza njengefa kubazali bethu. Yonke imisebenzi emzimbeni wethu ilawulwa yizinto ezibizwa ngokuthi izakhi zofuzo. Lawo maseli amhlophe egazi esikhulume ngawo ngaphambilini aqukethe 'imiyalelo' eyenza ama-enzyme adingekayo ukubulala amagciwane.

Ku-CGD, kukhona ukuguquka kwesinye sezakhi zofuzo ezinhlanu eziqukethe le miyalelo. Ngenxa yalokhu kuguquka, amangqamuzana amhlophe egazi awakwazi ukwenza i-enzyme, noma uma ekwenza, ayisebenzi kahle. Umphumela uba ukuthi awakwazi ukulwa namagciwane.

I-CGD ihlukaniswe ngezinhlobo ezimbili kuye ngokuthi lesi sici sofuzo senzeka kanjani.

• I-CGD exhunywe ku-X: Lolu uhlobo oluvame kakhulu. Lubangelwa ukuguquka kwezakhi zofuzo (i-gene ethi `CYBB`) ku-chromosome ethi X. Amadoda ane-chromosome eyodwa ethi X, kanti abesifazane bane-chromosome ezimbili ethi X. Yingakho lesi sifo sivame kakhulu kubafana .
• I-Autosomal recessive CGD: Lokhu kubangelwa izinguquko kwezinye izakhi zofuzo (`CYBA`, `NCF1`, `NCF2`, `CYBC1` noma `NCF4`). Lolu hlobo lungathinta kokubili abesilisa nabesifazane ngokulinganayo.

Yiziphi izingozi nezinkinga ezingase zivele ngenxa yalesi sifo?

Umuntu one-CGD usengozini enkulu uma othile emndenini wakhe enalesi sifo. Kodwa-ke, akuvamile kakhulu ukuthi kube namacala alesi sifo avele ngokuzenzakalelayo, ngaphandle komlando womndeni.

Kunezinkinga eziningana ezingase zenzeke ngenxa ye-CGD.

• Izinkinga zokugaya ukudla: Izilonda nokuvuvukala emathunjini kungaphazamisa inqubo yokugaya ukudla.
• Izifo zamathumbu: Isibonelo, kunengozi eyengeziwe yokukhula kwezimo ezifana ne -Inflammatory Bowel Disease (IBD), okuwukuvuvukala kwamathumbu okungapheli.
• Izinkinga zokukhula: Uma izingane ezincane nezinsana zinalesi sifo, ukukhula kwazo ngokomzimba kungase kubambezeleke.
• Ezinye izifo: Kuye ngohlobo lwesici sofuzo esibangela i-CGD, abanye abantu basengozini yokuthola isifo senhliziyo, isifo sezinso, isifo sikashukela, noma ezinye izimo zokuzivikela komzimba.

Wazi kanjani ukuthi une-CGD?

Udokotela wakho uzoqala ngokukubuza wena nengane yakho ngezimpawu zenu kanye nomlando wezokwelapha womndeni. Bese, bazoyala ukuhlolwa okuningana ukuqinisekisa ukuxilongwa.

• Ukuhlolwa komzimba: Udokotela uhlola umzimba ngokucophelela ukuze athole ukuvuvukala, amathumba, kanye nama-granuloma.
• Ukuhlolwa kwegazi: Kukhona ukuhlolwa kwegazi okukhethekile okungaxilonga i-CGD ngokunembile. Lokhu kubizwa ngokuthi ukuhlolwa kwe-DHR (ukuhlolwa kwe-dihydrorhodamine) . Lokhu kuhlolwa kulinganisa ikhono lamaseli amhlophe egazi lokubulala amagciwane.
• Ukuhlolwa kofuzo:Kuthathwa isampula yegazi noma isampula yezicubu ukuze kubhekwe ukuthi isici esithile sofuzo sibangela i-CGD. Lokhu kungasiza futhi ekutholeni uhlobo oluqondile lwesifo.

Yiziphi izindlela zokwelapha i-CGD?

Nakuba i-CGD ingelapheki ngokuphelele, manje kunezindlela eziningi zokwelapha ezinhle ezingasiza ekulawuleni izimpawu, zivikele ezifweni ezinkulu, futhi zisize abantu baphile impilo evamile.

Ukwelashwa ngemithi

• Ama-antibiotic: Iziguli eziningi ze-CGD kuzodingeka zithathe ama-antibiotic impilo yazo yonke ukuze zivimbele ukutheleleka ngamagciwane futhi zelaphe ukutheleleka okuvelayo.
• Ama-Antifungal: Imithi efana ne-`(itraconazole)` isetshenziselwa ukuvimbela nokwelapha izifo zesikhunta.
• Imijovo ye-Interferon-gamma: Lolu uhlobo lokwenziwa lweprotheni eyenziwe amasosha omzimba ethu. Lo mjovo usiza ekunciphiseni ukuvama kanye nobukhali bokutheleleka.

Ezinye iziguli, ikakhulukazi lezo ezinezimo ezinzima, zingafakwa ukufakelwa i-stem cell . Lokhu kuhilela ukufaka ama-stem cell emzimbeni wesiguli kusuka kumuntu ophilile, athatha indawo yamaseli amhlophe egazi angasebenzi kahle ngamaseli anempilo. Kodwa-ke, lokhu kuyindlela yokwelapha eyinkimbinkimbi futhi eyingozi, ngakho odokotela batusa ukuthi isekelwe ezintweni eziningi, njengobudala besiguli kanye nempilo yaso.

Yini okufanele siyenze ukuze sizivikele ezifweni?

• Qaphela ngamanzi: Gwema ukubhukuda emifuleni, olwandle, nasemachibini nhlobo. Lokhu akuna-chlorine, ngakho-ke amagciwane abangela izifo angangena kalula emzimbeni wakho. Ngakho-ke, uma ubhukuda, sebenzisa ichibi eline-chlorine kuphela .
• Nakekela ingadi yakho: Gwema ukuthinta noma ukulenga eduze kwemfucuza yengadi, izinqwaba zomquba, izinqwaba zotshani, namaqabunga omile. Ezinye zefungi ezingatholakala kulezi zingabangela i-pneumonia enzima engaba yingozi empilweni uma ihogelwa yisiguli se-CGD. Ngakho-ke, kufanele uqaphele kakhulu ngalokhu.

Izinto okufanele uzazi ngokuphila nalesi sifo

Ukuzwa ngalesi sifo kungaba yinto eyesabekayo. Kodwa iqiniso liwukuthi, ngokwelashwa okufanele kanye nokuxhumana njalo nodokotela wakho, abantu abaningi abane-CGD bangaphila impilo evamile, esebenzayo, nejabulisayo. Into ebaluleke kakhulu ukuqaphela ukutheleleka bese uqala ukwelashwa kusenesikhathi, ngaphambi kokuba kube kubi kakhulu.

Uma wena noma ingane yakho nihlushwa izifo ezingachazeki njalo, bona udokotela wakho ngokushesha bese nixoxa ngalokhu.

Uma ingane yakho ine-CGD, qonda ukuthi akulona iphutha lakho. Kuyisifo sofuzo. Ngeseluleko esifanele sezokwelapha, ingane yakho inethuba elihle lokuphila impilo ende nejabulisayo. Into ebalulekile ukuba nolwazi oluhle ngalesi sifo futhi ulandele imiyalelo kadokotela wakho ngokucophelela.