Ingaba umntwana wakho omncinci uhlala egula? Isenokuba yi-XLA (X-Linked Agammaglobulinemia). Masithethe!

Nangona ngamanye amaxesha sicinga ukuba kuyinto eqhelekileyo ukuba abantwana bethu bagule rhoqo, kwabanye abantwana oku kunokuba yingxaki enkulu. Ingakumbi ukuba inkwenkwe ihlala ihlushwa zizifo ezibangelwa ziintsholongwane, isenokuba ngenxa yesifo esingaqhelekanga semfuza. Namhlanje siza kuthetha ngemeko enjalo.

Yintoni i-XLA (i-X-Linked Agammaglobulinemia)?

Kulungile, yintoni i-XLA (i-X-linked agammaglobulinemia)? Ngamafutshane, yimeko yemfuza . Umzimba wethu unomkhosi wamajoni abalulekileyo ukulwa nesifo, kwaye yinkqubo yethu yokuzikhusela . Uhlobo olukhethekileyo lweseli kule nkqubo lubizwa ngokuba zii-B-cells . Ezi B-cells zezona zenza iiproteni ezibizwa ngokuba zii-antibodies ukulwa nesifo xa imizimba yethu igula. Ezi antibodies zisebenza njengamajoni akhusela ilizwe lethu.

Umntu one-XLA (X-Linked Agammaglobulinemia) akazivelisi kakuhle ezi B-cells. Okanye azivelisi zimbalwa kakhulu. Ngoko ke, kwenzeka ntoni xa ungakwazi ukwenza ii-antibodies? Ugula lula kwaye ugula rhoqo. Kwakhona, izicubu zomzimba wethu ezinxulumene nenkqubo yomzimba yokuzikhusela, njenge -lymph nodes , ii-tonsils, kunye ne -adenoids, azikhuli kakuhle, kwaye ngamanye amaxesha azenzeki konke konke. Le meko idla ngokubonakala kumakhwenkwe . Siza kuthetha ngesizathu sale nto kamva.

Le meko, ebizwa ngokuba yi-XLA (X-Linked Agammaglobulinemia), ikwaziwa nangamanye amagama:

• I-agammaglobulinemia kaBruton
• I-agammaglobulinemia yokuzalwa
• I-Hypogammaglobulinemia

Nangona kunjalo, igama elithi Hypogammaglobulinemia likwasetyenziswa kwenye imeko efanayo. Oko kukuthi i-CVID (Common Variable Immunodeficiency) . I-CVID (Common Variable Immunodeficiency) ayisoloko inzima njenge-XLA (X-Linked Agammaglobulinemia), kwaye ixhaphake kakhulu xa sele ikhulile. Nangona kunjalo, abantwana abane-XLA (X-Linked Agammaglobulinemia) bafunyanwa bengekafiki kunyaka omnye okanye besebancinci kakhulu.

Yintoni umahluko phakathi kwe-XLA (X-Linked Agammaglobulinemia) kunye ne-SCID (Severe Combined Immunodeficiency)?

Ngoku usenokuba uzibuza ukuba ingaba le yi-XLA (X-Linked Agammaglobulinemia) okanye yimeko enzima yokungakwazi ukuzikhusela komzimba onokuba wayiva ebizwa ngokuba yi -SCID (Severe Combined Immunodeficiency) . Hayi, kukho umahluko omncinci phakathi kwezi zimbini. Kwi-XLA (X-Linked Agammaglobulinemia) , ii-B-cells esithethe ngazo ngaphambili zichaphazeleka kakhulu. Kwi-SCID (Severe Combined Immunodeficiency) , ii-T-cells ziyachaphazeleka.Olunye uhlobo olubalulekileyo lweseli yomzimba yokuzikhusela olubizwa ngokuba zii-T-cells (ngamanye amaxesha ii-B-cells nazo zinokuchaphazeleka). Zombini ziimeko zemfuza ezenza buthathaka inkqubo yomzimba yokuzikhusela kwaye zihlala zibangela izifo. Kodwa umahluko ophambili phakathi kwezi zimbini luhlobo lweseli echaphazelekileyo.

Ixhaphake kangakanani i-XLA (X-Linked Agammaglobulinemia)?

Le meko ibizwa ngokuba yi-XLA (X-Linked Agammaglobulinemia) ayiqhelekanga . Oko kuthetha ukuba ayisosifo esifunyanwa ngabantu abaninzi. Nangona kunjalo, njengoko besitshilo ngaphambili, ixhaphake kakhulu kubafana . Ngokwezibalo, malunga nenye kumakhulu amabini amawaka (200,000) abafana bazalwa bene-XLA (X-Linked Agammaglobulinemia).

Zithini iimpawu ze-XLA (X-Linked Agammaglobulinemia)?

Ngenxa yokuba abantwana abane-XLA (X-Linked Agammaglobulinemia) baneenkqubo zomzimba ezingaphuhli kakuhle, ii-lymph nodes zabo, ii-tonsils, kunye nee-adenoids zihlala zincinci okanye azikho . Oku kubenza bathambekele ekusulelekeni rhoqo ziintsholongwane kwasebuntwaneni. Umzekelo:

• I-Bronchitis : Olu luhlobo losulelo lwe -bronchi, iityhubhu ezikhokelela emiphungeni.
• Usulelo lwendlebe (i-Otitis media) : Usulelo lwendlebe ephakathi.
• I-Sinusitis : Usulelo lweempumlo ezijikeleze impumlo.
• I-Pneumonia : Usulelo olubi oluchaphazela imiphunga.
• Usulelo lwesisu : Izinto ezinje ngokuphazamiseka kwesisu kunye norhudo.

Kodwa kubalulekile ukukhumbula ukuba abantwana abane-XLA (X-Linked Agammaglobulinemia) abaqhelekanga ukuba nezifo ezibangelwa ziintsholongwane (umz., iCytomegalovirus (CMV) , iRSV (Respiratory Syncytial Virus) , okanye izifo ezibangelwa yifungus . Bakhathazwa kakhulu zizifo ezibangelwa ziintsholongwane.

Yintoni ebangela i-XLA (i-X-Linked Agammaglobulinemia)?

Njengoko besitshilo ngaphambili, i-XLA (i-X-Linked Agammaglobulinemia) sisifo semfuza . Oku kuthetha ukuba umntwana usifumana kumama, kutata, okanye kubo bobabini. Sine-gene ebizwa ngokuba yi-BTK gene emizimbeni yethu. Le gene iyalela imizimba yethu ukuba yenze ii-B-cells. Siyazi ukuba ii-B-cells zenza ii-antibodies kwaye zilwa nezifo.

Ngoko ke, ukuba kukho utshintsho okanye utshintsho kule gene ye-BTK, ii-B-cells azinakwenziwa ngokufanelekileyo. Emva koko, okwenzekayo kukuba umntu ongenalo olo tshintsho lwe-gene akanakulwa nezifo ngendlela alwa ngayo. Yiyo loo nto ehlala egula, kwaye ngamanye amaxesha ade abe nezifo ezinzulu ezinokuba yingozi ebomini.

Yintoni 'i-X-linked'?

Ngoku makhe sijonge ukuba kuthetha ukuthini 'uX-linked'. Sonke sifumana ii-genes zethu kubazali bobabini. Ezi genes zifumaneka kwizinto ezibizwa ngokuba zii-chromosomes . Ezi genes zixelela imizimba yethu indlela yokwenza iiproteni ezifunekayo ukuze zisebenze. Uninzi lwexesha, nokuba kukho utshintsho kwi-gene enye, enye ikopi (evela komnye umzali) isaphelele, ngoko ke umzimba unokusebenza ngendlela ofanele usebenze ngayo.

Nangona kunjalo, iichromosome zesini zamadoda azifani. Zinechromosome enye ye-X kunye nechromosome enye ye-Y . Ngoko ke, ukuba kukho utshintsho kwijini kule chromosome ye-X, akukho khophi yimbi yokuyilungisa. Ijini ye-BTK esithethe ngayo ikwile chromosome ye-X. Yiyo loo nto ibizwa ngokuba yi-'X-linked'. Ngoko ke ukuba inkwenkwe ineguquko kwijini ye-BTK kwi-chromosome yayo ye-X, iya kuba ne-XLA (X-Linked Agammaglobulinemia).

Amantombazana anee-chromosomes ezimbini ze-X. Nangona ene-mutation ebangela i-XLA (i-X-Linked Agammaglobulinemia) kwenye yee-chromosomes zabo ze-X, i-gene ye-BTK kwenye i-chromosome ye-X isasebenza kakuhle, ngoko ke banokwenza inani elifunekayo lee-B-cells. Ngoko ke abafumani sifo, kodwa banokuba ngabathwali . Oko kuthetha ukuba banokuyithwala i-gene ngaphandle kokubonisa iimpawu.

Ziziphi izinto ezibangela umngcipheko we-XLA (X-Linked Agammaglobulinemia)?

Okwangoku, eyona nto ibalulekileyo yomngcipheko wokuphuhlisa i-XLA (X-Linked Agammaglobulinemia) yimbali yosapho yale meko . Oku kuthetha ukuba ifunyenwe njengelifa.

Ngaba amantombazana anokufumana i-XLA (i-X-Linked Agammaglobulinemia)?

Ewe, kunqabile kakhulu ukuba umntwana oyintombazana abe ne-XLA (X-Linked Agammaglobulinemia). Kodwa ukuze oko kwenzeke, bobabini abazali kufuneka baphathe i-X chromosome ene-gene ye-BTK eguquliweyo. Oko kukuthi, umama ungumthwali kwaye utata naye une-XLA (X-Linked Agammaglobulinemia). Ngokwesiqhelo, abantwana abangamabhinqa banokuba ngabathwali bolu tshintsho lwemfuza. Emva koko, nokuba abanaso esi sifo, banokudlulisela esi sifuzo kubantwana babo. Ukuba abo bantwana ngabafana, kusenokwenzeka ukuba baphuhlise i-XLA (X-Linked Agammaglobulinemia).

Ziziphi iingxaki ezinokubakho ze-XLA (X-Linked Agammaglobulinemia)?

Ezinye zeengxaki ezinokwenzeka nge-XLA (X-Linked Agammaglobulinemia) zezi:

• Isifo semiphunga esingapheliyo : Usulelo oluhlala lukho emiphungeni lunokonakalisa imiphunga ngokuhamba kwexesha.
• Usulelo lusasazeka kwezinye iindawo zomzimba : Umzekelo, usulelo lunokusasazeka luye egazini (sepsis) okanye kwingqondo (meningitis).
• Kukwakho nokurhanelwa ukuba kusenokubakho umngcipheko okhulayo weentlobo ezithile zomhlaza , kodwa uphando olongezelelekileyo luyaqhubeka ngale nto.

Ifunyaniswa njani i-XLA (X-Linked Agammaglobulinemia)?

Ugqirha angenza uvavanyo lwegazi oluninzi ukuze afumanise ukuba wena okanye umntwana wakho une-XLA (X-Linked Agammaglobulinemia). Ukuba olu vavanyo lwegazi lubonisa ukuba ii-B-cells okanye ii-antibodies zakho ziphantsi, ugqirha wakho uya kwenza uvavanyo lwe-genetic . Oku kukhangela utshintsho kwi-gene ye-BTK kwi -DNA yakho .

Iphathwa njani i-XLA (X-Linked Agammaglobulinemia)?

Ngelishwa, akukho nyango lwe-XLA (X-Linked Agammaglobulinemia). Nangona kunjalo, kukho unyango olunokunceda ukuthintela iingxaki ezinkulu. Ezona ziphambili zezi:

• Unyango lwe-Immunoglobulin yokutshintsha (RIgG) : Oku kubandakanya ukunika ii-antibodies ezivela kubanikeli abaphilileyo nge-intravenously (IV). Olu nyango lunikwa ubuncinane kanye ngenyanga . Oku kunceda ukulawula amanqanaba aphantsi e-antibody emzimbeni ukuya kwinqanaba elithile.
• Ukunyanga izifo kwangethuba : Kwangoko nje wena okanye umntwana wakho nikrokrelwa ukuba ninesifo, ugqirha wakho uza kuqala ukunyanga izifo ezibangelwa ziintsholongwane ngee -antibiotics . Kubalulekile ukuqala unyango kwangethuba.
• Ukuphepha ukugonywa okuphilayo : Abantu abane-XLA (X-Linked Agammaglobulinemia) akufuneki bafumane imigonyo ephilayo . Ezi migonyo zinokubangela ukugula okukhulu kwaye zinokuba yingozi ebomini. Imizekelo ibandakanya ugonyo lwe-MMR (isisu, i-mumps, i-rubella) , ugonyo lwe-chickenpox-varicella, kunye nogonyo lwe-polio yomlomo . Ke ngoko, kubalulekile ukuthetha nogqirha wakho ngale nto kwaye ufumane ulwazi olupheleleyo.

Yintoni emele ilindelwe ngumntu one-XLA (X-Linked Agammaglobulinemia)?

Abantu abane-XLA (X-Linked Agammaglobulinemia) kuya kufuneka bathathe amayeza ubomi babo bonke . Oku kwenzelwa ukunciphisa umngcipheko wokufumana izifo. Kufuneka bagcine ubudlelwane obusondeleyo nogqirha wabo kwaye bafune unyango ngokukhawuleza xa kukho nasiphi na isifo. Wena okanye umntwana wakho one-XLA (X-Linked Agammaglobulinemia) unokuphoswa ziintsuku ezininzi zesikolo nezomsebenzi ngenxa yokugula kunabantu ngokubanzi.

Baphila ixesha elingakanani abantu abane-XLA (X-Linked Agammaglobulinemia)?

Yinto entle kakhulu ukuba, ngophuhliso lweendlela zonyango , abantu abane-XLA (X-Linked Agammaglobulinemia) kumazwe aphuhlileyo njengeMelika baphila ubomi obude . Nangona kunjalo, kumazwe asaphuhlayo, kusenzima kakhulu ukuxilonga nokufumana unyango. Ke ngoko, ngokubanzi, ubomi obulindelekileyo babantwana abane-XLA (X-Linked Agammaglobulinemia) kumazwe anjalo bunokuncipha. Kodwa eSri Lanka, ngoku kukho unyango olufanelekileyo lweemeko ezinjalo.

Ngaba i-XLA (i-X-Linked Agammaglobulinemia) ingathintelwa?

Ukuba ukhathazekile nge-XLA (X-Linked Agammaglobulinemia), oko kuthetha ukuba umntu kusapho lwakho unale meko, ungabonana nogqirha kwaye ufumane uvavanyo lwemfuza . Oku kunokukunceda ufumane ulwazi malunga neemeko zemfuza onokuzidlulisela kumntwana wakho. Ukuba ungumthwali we-gene mutation ebangela i-XLA (X-Linked Agammaglobulinemia), xa unomntwana, kukho ithuba elingama-50% lokuba loo mntwana uza kuzuza i-gene mutation. Ukuba loo mntwana yinkwenkwe, unokufumana i-XLA (X-Linked Agammaglobulinemia). Ukuba une-XLA (X-Linked Agammaglobulinemia), amantombazana akho aya kuba ngabathwali. Umcebisi wemfuza okanye ugqirha oye wayalela uvavanyo uya kukunika iingcebiso ezingakumbi malunga noku.

Ndingazinyamekela njani?

Eyona ndlela ilungileyo yokuzinyamekela nge-XLA (X-Linked Agammaglobulinemia) kukubeka impilo yakho phambili . Gcina amadinga akho kagqirha. Funda ukuqaphela iimpawu zosulelo. Buza ugqirha wakho ukuba wenze ntoni ukuba ubonakalisa iimpawu zosulelo.

Ndifanele ndimbone nini ugqirha?

Kungcono ukuthetha nogqirha kwiimeko ezinje:

• Ukuba umntwana wakho uyagula emva kokufumana isitofu esiphilayo (umz. isitofu se-MMR, isitofu se-chickenpox).
• Ukuba umntwana wakho uhlala efumana usulelo lweentsholongwane .
• Ukuba ufumana nosulelo lweentsholongwane rhoqo (njengoko oku kunokuba yimeko efana ne-CVID, echaphazela nabantu abadala).

Ugqirha uya kukwazi ukukuxelela ukuba oku kufuneka kuphandwe ngakumbi na okanye akunjalo.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kungakunceda ukubuza imibuzo efana nale xa ubona ugqirha wakho:

• Zeziphi iimpawu zosulelo ekufuneka ndiziqaphele?
• Ndingenza ntoni ukuba ndicinga ukuba mna okanye umntwana wam sinesifo?
• Ziziphi iindlela zonyango?
• Kukangaphi ndifuna unyango mna okanye umntwana wam?

Kuqhelekile ukuba abantwana abancinci bagule rhoqo. Kodwa ukuba umntwana wakho ufumana usulelo oluhlala lukho kwiintsholongwane, kusenokuba kukho enye into ebangela oko. Thetha nogqirha wakho ngayo nayiphi na into ekuxhalabisayo. Ukufumana uxilongo kunye nonyango kwangethuba yeyona ndlela ilungileyo yokufumana iziphumo ezilungileyo.

Ukuba uphila ne-XLA (X-Linked Agammaglobulinemia) – imeko yemfuza apho umzimba wakho ungazivelisi ii-B-cells ngokufanelekileyo – landela imiyalelo kagqirha wakho ngokuchanekileyo. Kubaluleke kakhulu ukukwazi ukubona iimpawu zosulelo ukuze ufumane unyango ngokukhawuleza.

Ezona zinto zibalulekileyo ekufuneka uzikhumbule kweli nqaku

Kulungile, nazi izinto ezimbalwa ekufuneka uzikhumbule kwinto esithethe ngayo nge-XLA (X-Linked Agammaglobulinemia):

• Yintoni i-XLA (i-X-Linked Agammaglobulinemia)?Ingxaki engaqhelekanga yemfuza echaphazela kakhulu abafana .
• Oku kwenzeka xa ii -B-cells zomzimba zingakhuli kakuhle , nto leyo ebangela ukwehla kwee-antibodies kunye nosulelo oluqhelekileyo lweebhaktheriya .
• Izinto ezifana neetoni kunye nee-adenoids zinokuncipha okanye zinyamalale.
• Nangona kungekho nyango luthile loku, lunokulawulwa kakuhle ngonyango lobomi bonke (RIgG) kunye nonyango olukhawulezileyo lwee-antibiotics.
• Akulunganga ukunika aba bantu imijovo ephilayo.
• Ukuba umntwana wakho oyinkwenkwe uhlala egula kakhulu, kubaluleke kakhulu ukufuna ingcebiso kagqirha ngoko nangoko. Ukuxilongwa kwangoko kunye nonyango kuya kunceda kakhulu ekuncedeni umntwana wakho aphile ubomi obuqhelekileyo.

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unemibuzo, ungathandabuzi ukuthetha nogqirha wakho wosapho!

I - agammaglobulinemia edityaniswe ne-X, i-XLA, ii-B-cells, inkqubo yomzimba yokuzikhusela, izifo zemfuza, ukugula rhoqo, amakhwenkwe, ii-antibodies, i-BTK gene, unyango lwe-RIgG