Usulelo olunzima oluqhelekileyo: Ngaba kufuneka siqaphele esi sifo singaqhelekanga (iSifo seGranulomatous esingapheliyo - iCGD)?

Ngaba umntwana wakho omncinci uhlala egula? Xa esinye isifo siphucuka, kuvela esinye. Ngaba ngamanye amaxesha ufumana usulelo olukhulu eluswini, emiphungeni, okanye nangaphakathi emzimbeni? Abazali abaninzi bakhathazekile ngeengxaki ezinjalo. Namhlanje siza kuthetha ngemeko yemfuza engaqhelekanga kodwa ebalulekileyo enokubangela usulelo olunjalo rhoqo. Esi sibizwa ngokuba yiChronic Granulomatous Disease, okanye iCGD ngamafutshane phakathi koogqirha.

Ngamafutshane, yintoni i-CGD?

Ukuze siqonde oku, masiqale sithethe kancinci ngenkqubo yokuzikhusela yomzimba wethu. Khawuthelekelele ukuba umzimba wethu ufana nelizwe. Unomkhosi okwaziyo ukuwukhusela kwiintshaba zangaphandle (iintsholongwane). Loo yindlela yethu yokuzikhusela . Inxalenye ekhethekileyo yalo mkhosi ibizwa ngokuba ziiseli zegazi ezimhlophe .

Nantsi into eyenzekayo kumntu one-CGD. Kukho iqela elikhethekileyo leeseli ezimhlophe zegazi ezibizwa ngokuba ngamajoni, umzekelo, `(neutrophils)`, `(monocytes)`, `(macrophages)` kunye `(eosinophils)`. Umsebenzi ophambili wezi seli kukufumana iintlobo ezithile zeebhaktheriya kunye nefungi ezingena emzimbeni, zizibambe, kwaye zitshabalalise.

Kodwa kumntu one-CGD, la majoni akhethekileyo, okanye iiseli ezimhlophe zegazi, azikwazi ukusebenzisa izixhobo zawo ngokufanelekileyo. Azikwazi ukwenza i-enzyme ekhethekileyo eziyidingayo ukubulala ezo ntsholongwane. Kufana nokuba nesibhamu kodwa kungekho zimbumbulu. Ngoko ke kwenzeka ntoni? Inkqubo yethu yokuzikhusela yomzimba ixinene, ayikwazi ukulwa neebhaktheriya ezithile kunye nefungi ezingena emzimbeni.

Ezi zifo zihlala zenzeka eluswini, emiphungeni, kuma-lymph nodes, nasesibindini . Zikwanamathuba amaninzi okwenza amathumba , angamaqhuma azaliswe bubomvu ngaphakathi kwamalungu omzimba.

Esi asisosifo sixhaphakileyo. Malunga nomntu omnye kwizigidi ezibini ezinesiqingatha kwihlabathi liphela unesifo. Kwakhona, kufunyenwe ukuba abafana banamathuba amaninzi okuba naso .

Zeziphi iimpawu ezibonakaliswa ngumntu one-CGD?

Iimpawu ze-CGD zihlala ziqala ebuntwaneni. Nangona kunjalo, ngamanye amaxesha zinokuvela nangaliphi na ixesha. Uphawu oluphambili noluqhelekileyo kukwanda kosulelo olunamandla oluphindaphindayo lwebhaktiriya kunye nefungus.

Makhe sijonge ezi mpawu ukuze siziqonde lula ukuba ziyintoni na.

Kutheni le CGD isenzeka? Yintoni unobangela?

Ngamafutshane, i-CGD yimeko yemfuza.Oko kuthetha ukuba le yinto esiyizuza njengelifa kubazali bethu. Yonke imisebenzi emzimbeni wethu ilawulwa zizinto ezibizwa ngokuba zii-genes. Ezo seli zegazi ezimhlophe esithethe ngazo ngaphambili ziqulathe 'imiyalelo' eyenza ii-enzymes ezifunekayo ukubulala iintsholongwane.

Kwi-CGD, kukho utshintsho kwenye yezakhi zofuzo ezintlanu eziqulathe le miyalelo. Ngenxa yolu tshintsho, iiseli ezimhlophe zegazi azikwazi ukwenza i-enzyme, okanye ukuba ziyayenza, ayisebenzi kakuhle. Isiphumo kukuba azikwazi ukulwa neentsholongwane.

I-CGD yahlulwe yaba ziintlobo ezimbini ngokuxhomekeke kwindlela eyenzeka ngayo le ngxaki yemfuza.

• I-CGD edityaniswe ne-X: Olu lolona hlobo luqhelekileyo. Lubangelwa kukuguquka kwejini (ijini ye-`CYBB`) kwi-chromosome ye-X. Amadoda ane-chromosome enye ye-X, ngelixa abafazi bene-chromosome ezimbini ze-X. Yingakho esi sifo sixhaphake kakhulu kubafana .
• I-Autosomal recessive CGD: Oku kubangelwa kukuguquka kwezinye iijini (`CYBA`, `NCF1`, `NCF2`, `CYBC1` okanye `NCF4`). Olu hlobo lunokuchaphazela amadoda nabafazi ngokulinganayo.

Ziziphi iingozi kunye neengxaki ezinokubakho ngenxa yesi sifo?

Umntu one-CGD usengozini enkulu ukuba kukho umntu kusapho lwakhe onesi sifo. Nangona kunjalo, kunqabile kakhulu ukuba kubekho iimeko zesi sifo ezenzeka ngokuzenzekelayo, ngaphandle kwembali yosapho.

Kukho iingxaki ezininzi ezinokwenzeka ngenxa ye-CGD.

• Iingxaki zokugaya ukutya: Izilonda kunye nokudumba kwamathumbu kunokuphazamisana nenkqubo yokugaya ukutya.
• Izifo zamathumbu: Umzekelo, kukho umngcipheko okhulayo wokukhula kwezifo ezifana ne -Inflammatory Bowel Disease (IBD), ekukudumba okungapheliyo kwamathumbu.
• Iingxaki zokukhula: Ukuba abantwana abancinci kunye neentsana banale sifo, uphuhliso lwabo lomzimba lunokulibaziseka.
• Ezinye izifo: Ngokuxhomekeke kuhlobo lwesiphene semfuza esibangela i-CGD, abanye abantu basengozini yokufumana isifo sentliziyo, isifo sezintso, isifo seswekile, okanye ezinye izifo ezizikhuselayo emzimbeni.

Uyazi njani ukuba une-CGD?

Ugqirha wakho uza kuqala akubuze wena nomntwana wakho ngeempawu zenu kunye nembali yempilo yosapho. Emva koko, uza kuyalela iimvavanyo ezininzi ukuqinisekisa ukuba unesifo.

• Uvavanyo lomzimba: Ugqirha uhlola umzimba ngononophelo ukuze abone ukuba kukho ukudumba, amathumba, kunye nee-granulomas.
• Uvavanyo lwegazi: Kukho uvavanyo lwegazi olukhethekileyo olunokuchonga ngokuchanekileyo i-CGD. Oku kubizwa ngokuba luvavanyo lwe-DHR (uvavanyo lwe-dihydrorhodamine) . Olu vavanyo lulinganisa amandla eeseli ezimhlophe zegazi okubulala iintsholongwane.
• Uvavanyo lwemfuza:Kuthathwa isampuli yegazi okanye isampuli yethishu ukuze kukhangelwe isiphene esithile semfuza esibangela i-CGD. Oku kunokunceda ekuchongeni uhlobo oluchanekileyo lwesifo.

Ziziphi iindlela zonyango ze-CGD?

Nangona i-CGD ingenakunyangwa ngokupheleleyo, ngoku kukho unyango oluninzi oluhle olunokunceda ukulawula iimpawu, ukukhusela kwiintsholongwane ezinzulu, kunye nokunceda abantu baphile ubomi obuqhelekileyo.

Unyango ngamayeza

• Ii-antibiotics: Izigulane ezininzi ze-CGD ziya kufuneka zithathe ii-antibiotics ubomi bazo bonke ukuze zithintele usulelo lweentsholongwane kwaye zinyange usulelo oluvelayo.
• Amayeza okulwa nefungus: Amayeza afana ne-`(itraconazole)` asetyenziselwa ukuthintela nokunyanga usulelo lwefungus.
• Iinaliti ze-Interferon-gamma: Olu luhlobo lweproteni eyenziwe yinkqubo yethu yokuzikhusela komzimba. Olu nyango lunceda ekunciphiseni ukuphindaphindeka kunye nobukhali bezifo.

Ezinye izigulana, ingakumbi ezo zineemeko ezinzima, zinokufakelwa i-stem cell transplant . Oku kuquka ukufaka ii-stem cells ezivela kumntu ophilileyo emzimbeni wesigulane, ezithatha indawo yeeseli ezimhlophe zegazi ezingasebenzi kakuhle ngeeseli eziphilileyo. Nangona kunjalo, olu lunyango oluntsonkothileyo nolunobungozi, ngoko oogqirha bacebisa ukuba lusekelwe kwizinto ezininzi, njengobudala besigulane kunye nempilo yaso.

Yintoni esifanele siyenze ukuze sizikhusele kwiintsholongwane?

• Lumka ngamanzi: Kuphephe ukudada emilanjeni, elwandle, nasemachibini kwaphela. Ezi azina chlorine, ngoko ke iintsholongwane ezibangela usulelo zinokungena emzimbeni wakho ngokulula. Ke ngoko, ukuba uyadada, sebenzisa ichibi eline chlorine kuphela .
• Lumka igadi yakho: Kuphephe ukuchukumisa okanye ukuxhoma inkunkuma yegadi, iimfumba zomgquba, iimfumba zengca, kunye namagqabi omileyo. Ezinye zeefungi ezinokufumaneka kwezi zinto zinokubangela inyumoniya enzima enokuba yingozi ebomini xa iphefumlwa sisigulana se-CGD. Ke ngoko, kufuneka ulumke kakhulu ngale nto.

Izinto ekufuneka uzazi malunga nokuphila nesi sifo

Ukuva ngesi sifo kunokoyikisa. Kodwa inyani yile, ngonyango olufanelekileyo kunye nokunxibelelana rhoqo nogqirha wakho, uninzi lwabantu abane-CGD banokuphila ubomi obuqhelekileyo, obusebenzayo, nobonwabisayo. Eyona nto ibalulekileyo kukubona usulelo kwaye uqale unyango kwangethuba, ngaphambi kokuba lube mandundu.

Ukuba wena okanye umntwana wakho ninezifo ezingapheliyo ezingachazwanga, bonana nogqirha wakho ngoko nangoko nize nithethe ngale nto.

Ukuba umntwana wakho une-CGD, qonda ukuba ayilotyala lakho. Yimeko yemfuza. Ngeengcebiso zonyango ezifanelekileyo, umntwana wakho unethuba elihle lokuphila ubomi obude nobonwabisayo. Into ebalulekileyo kukuba nolwazi olupheleleyo ngesi sifo kwaye ulandele imiyalelo kagqirha wakho ngononophelo.