Ingabe ingane yakho encane ihlala igula? Kungaba yi-XLA (X-Linked Agammaglobulinemia). Ake sixoxe!

Nakuba ngezinye izikhathi sicabanga ukuthi kuyinto evamile ukuthi izingane zethu zigule njalo, kwabanye abantwana lokhu kungaba yinkinga enkulu. Ikakhulukazi uma umfana ehlushwa izifo ezibangelwa amagciwane njalo, kungaba ngenxa yesimo esingavamile sofuzo. Namuhla sizokhuluma ngesimo esinjalo.

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

Kulungile, yini i-XLA (i-X-linked agammaglobulinemia)? Kalula nje, kuyisimo sofuzo . Umzimba wethu unebutho lamasosha elibaluleke kakhulu lokulwa nezifo, futhi yilelo isimiso sethu somzimba sokuzivikela . Uhlobo olukhethekile lweseli kulesi simiso lubizwa ngokuthi ama-B-cell . Lawa ma-B-cell yiwo enza amaprotheni abizwa ngokuthi ama-antibodies ukulwa nezifo lapho imizimba yethu igula. Lawa ma-antibodies asebenza njengamasosha avikela izwe lethu.

Umuntu one-XLA (X-Linked Agammaglobulinemia) akakhiqizi la ma-B-cell ngendlela efanele. Noma akhiqiza ambalwa kakhulu awo. Ngakho-ke, kwenzekani uma ungakwazi ukwenza ama-antibodies? Ugula kalula futhi ugula njalo. Futhi, izicubu zomzimba wethu ezihlobene nesistimu yomzimba, njenge -lymph nodes , ama-tonsils, nama -adenoids, azikhuli kahle, futhi ngezinye izikhathi azakhi nhlobo. Lesi simo sivame ukubonakala kubafana . Sizoxoxa ngesizathu salokhu kamuva.

Lesi simo, esibizwa nge-XLA (X-Linked Agammaglobulinemia), saziwa nangamanye amagama:

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

Kodwa-ke, igama elithi Hypogammaglobulinemia liphinde lisetshenziswe kwesinye isimo esifanayo. Leso yi -CVID (Common Variable Immunodeficiency) . I-CVID (Common Variable Immunodeficiency) ngokuvamile ayibi kakhulu njenge-XLA (X-Linked Agammaglobulinemia), futhi ivame ukutholwa lapho isikhulile. Kodwa-ke, izingane ezine-XLA (X-Linked Agammaglobulinemia) zitholakala zingakafiki unyaka noma zisencane kakhulu.

Uyini umehluko phakathi kwe-XLA (X-Linked Agammaglobulinemia) kanye ne-SCID (Severe Combined Immunodeficiency)?

Manje ungase uzibuze ukuthi ngabe lokhu yi-XLA (X-Linked Agammaglobulinemia) noma isimo esibi kakhulu sokuntuleka kwamasosha omzimba okungenzeka ukuthi wake wasizwa esibizwa ngokuthi i-SCID (Severe Combined Immunodeficiency) . Cha, kunomehluko omncane phakathi kwalokhu okubili. Ku-XLA (X-Linked Agammaglobulinemia) , ama-B-cell esikhulume ngawo ngaphambili athinteka kakhulu. Ku-SCID (Severe Combined Immunodeficiency) , ama-T-cell ayathinteka.Olunye uhlobo olubalulekile lweseli lokuzivikela komzimba olubizwa ngokuthi ama-T-cell (ngezinye izikhathi ama-B-cell nawo angathinteka). Zombili ziyizimo zofuzo ezenza buthaka isimiso sokuzivikela komzimba futhi zivame ukubangela izifo. Kodwa umehluko omkhulu phakathi kwalezi ezimbili uhlobo lweseli elithintekile.

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

Lesi simo esibizwa nge-XLA (X-Linked Agammaglobulinemia) empeleni asivamile kakhulu . Lokho kusho ukuthi akusona isifo abantu abaningi abasitholayo. Kodwa-ke, njengoba sishilo ngaphambili, sivame kakhulu kubafana . Ngokwezibalo, cishe oyedwa kwabayikhulu namakhulu amabili (200,000) abafana bazalwa bene-XLA (X-Linked Agammaglobulinemia).

Ziyini izimpawu ze-XLA (X-Linked Agammaglobulinemia)?

Ngenxa yokuthi izingane ezine-XLA (X-Linked Agammaglobulinemia) zinezivikeli mzimba ezingakathuthuki kahle, ama-lymph node azo, ama-tonsils, nama-adenoid ngokuvamile ancane noma awakho . Lokhu kuzenza zithambekele ekuthelelekeni njalo ngamagciwane kusukela zisencane. Isibonelo:

• I-Bronchitis : Lokhu ukutheleleka kwe -bronchi, amapayipi aholela emaphashini.
• Ukutheleleka kwendlebe (i-Otitis media) : Ukutheleleka kwendlebe ephakathi.
• I-Sinusitis : Ukutheleleka kwama-sinuses azungeze ikhala.
• I-pneumonia : Ukutheleleka okukhulu okuthinta amaphaphu.
• Ukutheleleka kwesisu : Izinto ezifana nokuphazamiseka kwesisu kanye nesifo sohudo.

Kodwa kubalulekile ukukhumbula ukuthi izingane ezine-XLA (X-Linked Agammaglobulinemia) azivamile ukuthambekela ekuthelelekeni ngegciwane (isb., i-Cytomegalovirus (CMV) , i-RSV (Respiratory Syncytial Virus) , noma izifo zefungal . Zihlushwa kakhulu izifo zamagciwane.

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

Njengoba sishilo ngaphambili, i-XLA (i-X-Linked Agammaglobulinemia) yisifo esibangelwa izakhi zofuzo . Lokhu kusho ukuthi ingane izuza lesi sifo kumama, kuyise, noma kokubili. Sinezakhi zofuzo ezibizwa ngokuthi i-BTK gene emizimbeni yethu. Lesi sakhi sofuzo siyala imizimba yethu ukuthi yenze amaseli e-B. Siyazi ukuthi amaseli e-B enza ama-antibodies futhi alwa nezifo.

Ngakho-ke, uma kukhona ushintsho noma ukuguquka kwezakhi zofuzo ze-BTK, amaseli e-B awakwazi ukwenziwa kahle. Khona-ke, okwenzekayo ukuthi umuntu ongenalo lolo guquko lwezakhi zofuzo akakwazi ukulwa nezifo ngendlela alwa ngayo. Yingakho egula ngaso sonke isikhathi, futhi ngezinye izikhathi aze athole nezifo ezinkulu ezingasongela ukuphila.

Kuyini 'okuxhunywe ku-X'?

Manje ake sibheke ukuthi kusho ukuthini ukuthi 'X-linked'. Sonke sithola izakhi zofuzo zethu kubazali bobabili. Lezi zakhi zofuzo zitholakala ezintweni ezibizwa ngama-chromosome . Lezi zakhi zofuzo zitshela imizimba yethu ukuthi zenze kanjani amaprotheni eziwadingayo ukuze zisebenze. Isikhathi esiningi, noma ngabe kukhona ushintsho ku-gene eyodwa, enye ikhophi (evela komunye umzali) isaphelele, ngakho umzimba ungasebenza ngendlela okufanele usebenze ngayo.

Kodwa-ke, ama-chromosome obulili bamadoda awafani. Ane -chromosome eyodwa engu-X kanye ne-chromosome eyodwa engu-Y . Ngakho-ke, uma kukhona ukuguquka kwezakhi zofuzo kule chromosome engu-X, ayikho enye ikhophi yokuyibuyisela. Izakhi zofuzo ze-BTK esikhulume ngazo zitholakala kule chromosome engu-X. Yingakho zibizwa ngokuthi 'i-X-linked'. Ngakho-ke uma umfana ene-mutation ku-gene ye-BTK ku-chromosome yakhe engu-X, uzoba ne-XLA (X-Linked Agammaglobulinemia).

Amantombazane anama-chromosome amabili e-X. Ngisho noma ene-mutation ebangela i-XLA (i-X-Linked Agammaglobulinemia) kwenye yama-chromosome awo e-X, i-gene ye-BTK kwenye i-chromosome ye-X isasebenza kahle, ngakho-ke ingenza inani elidingekayo lamaseli e-B. Ngakho-ke ayitholi lesi sifo, kodwa ingaba abathwali . Lokho kusho ukuthi ingathwala i-gene ngaphandle kokubonisa izimpawu.

Yiziphi izici eziyingozi ze-XLA (X-Linked Agammaglobulinemia)?

Kuze kube manje, okuwukuphela kwesici esaziwayo sengozi yokuthola i-XLA (X-Linked Agammaglobulinemia) umlando womndeni walesi simo . Lokhu kusho ukuthi sizuzwe njengefa.

Ingabe amantombazane angathola i-XLA (i-X-Linked Agammaglobulinemia)?

Yebo, akuvamile kakhulu ukuthi ingane yesifazane ikwazi nokuba ne-XLA (X-Linked Agammaglobulinemia). Kodwa ukuze lokho kwenzeke, bobabili abazali kumele baphathe i-chromosome X ene-gene ye-BTK eguquliwe. Okusho ukuthi, umama ungumthwali kanti nobaba naye une-XLA (X-Linked Agammaglobulinemia). Ngokuvamile, izingane zesifazane zingaba ngabathwali balolu guquko lwezakhi zofuzo. Khona-ke, noma bengenaso lesi sifo, bangadlulisela lesi sakhi sofuzo ezinganeni zabo. Uma labo bantwana bengabafana, cishe bazokuba ne-XLA (X-Linked Agammaglobulinemia).

Yiziphi izinkinga ezingaba khona ze-XLA (X-Linked Agammaglobulinemia)?

Ezinye zezinkinga ezingase zenzeke nge-XLA (X-Linked Agammaglobulinemia) yilezi:

• Isifo samaphaphu esingamahlalakhona : Ukutheleleka njalo kwamaphaphu kungalimaza amaphaphu ngokuhamba kwesikhathi.
• Ukutheleleka kusakazekela kwezinye izingxenye zomzimba : Isibonelo, ukutheleleka kungasakazekela egazini (sepsis) noma ebuchosheni (meningitis).
• Kukhona futhi ukusola ukuthi kungase kube nengozi eyengeziwe yezinhlobo ezithile zomdlavuza , kodwa ucwaningo olwengeziwe luyaqhubeka ngalokhu.

I-XLA (X-Linked Agammaglobulinemia) itholakala kanjani?

Udokotela angenza ukuhlolwa kwegazi okuningana ukuthola ukuthi wena noma ingane yakho ine-XLA (X-Linked Agammaglobulinemia). Uma lokhu kuhlolwa kwegazi kubonisa ukuthi amaseli akho e-B noma ama-antibodies aphansi, udokotela wakho uzobe esekwenza ukuhlolwa kofuzo . Lokhu kubheka izinguquko ku-gene ye-BTK ku -DNA yakho .

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

Ngeshwa, ayikho ikhambi le-XLA (X-Linked Agammaglobulinemia). Kodwa-ke, kunezindlela zokwelapha ezingasiza ekuvimbeleni izinkinga ezinkulu. Eziyinhloko yilezi:

• Ukwelashwa Kokufaka I-Immunoglobulin Esikhundleni (RIgG) : Lokhu kuhilela ukunikeza ama-antibodies avela kubanikeli abanempilo ngemithambo yegazi (IV). Lokhu kwelashwa kunikezwa okungenani kanye ngenyanga . Lokhu kusiza ukulawula amazinga aphansi e-antibody emzimbeni ngezinga elithile.
• Ukwelapha izifo kusenesikhathi : Lapho nje wena noma ingane yakho nisolwa ukuthi ninesifo, udokotela wakho uzoqala ukwelapha izifo ezibangelwa amagciwane ngama -antibiotic . Kubalulekile ukuqala ukwelashwa kusenesikhathi.
• Ukugwema imijovo ephilayo : Abantu abane-XLA (X-Linked Agammaglobulinemia) akufanele bathole imijovo ephilayo . Le mijovo ingabangela ukugula okukhulu futhi ingaba yingozi empilweni. Izibonelo zifaka phakathi umuthi wokugomela i-MMR (isimungumungwane, umphimbo, i-rubella) , umuthi wokugomela i-chickenpox - varicella, kanye nomuthi wokugomela i-polio ngomlomo . Ngakho-ke, kubalulekile ukukhuluma nodokotela wakho ngalokhu futhi uthole ulwazi olugcwele.

Yini okufanele ilindelwe umuntu one-XLA (X-Linked Agammaglobulinemia)?

Abantu abane-XLA (X-Linked Agammaglobulinemia) kuzodingeka bathathe imithi impilo yabo yonke . Lokhu kwenzelwa ukunciphisa ingozi yokuthola izifo. Badinga ukugcina ubuhlobo obuseduze nodokotela wabo futhi bafune ukwelashwa ngokushesha lapho kuvela noma yikuphi ukugula. Wena noma ingane yakho ene-XLA (X-Linked Agammaglobulinemia) ningaphuthelwa izinsuku eziningi zesikole nezomsebenzi ngenxa yokugula kunabantu abaningi.

Baphila isikhathi esingakanani abantu abane-XLA (X-Linked Agammaglobulinemia)?

Kuyinto enhle kakhulu ukuthi, ngokuthuthukiswa kwezindlela zokwelapha , abantu abane-XLA (X-Linked Agammaglobulinemia) emazweni athuthukile njengeMelika baphila baze babe ngabantu abadala . Kodwa-ke, emazweni asathuthuka, kusenzima kakhulu ukuxilonga nokuthola ukwelashwa. Ngakho-ke, ngokuvamile, isikhathi sokuphila sezingane ezine-XLA (X-Linked Agammaglobulinemia) emazweni anjalo singancishiswa. Kodwa eSri Lanka, manje sekukhona ukwelashwa okuhle kwezimo ezinjalo.

Ingabe i-XLA (i-X-Linked Agammaglobulinemia) ingavinjelwa?

Uma ukhathazekile nge-XLA (X-Linked Agammaglobulinemia), okusho ukuthi othile emndenini wakho unalesi simo, ungabona udokotela futhi uthole ukuhlolwa kwezakhi zofuzo . Lokhu kungakusiza ukuthi uthole ngezimo zezakhi zofuzo ongazidlulisela enganeni yakho. Uma ungumthwali we-gene mutation ebangela i-XLA (X-Linked Agammaglobulinemia), uma unengane, kunethuba elingu-50% lokuthi leyo ngane izozuza i-gene mutation. Uma leyo ngane ingumfana, ingaba ne-XLA (X-Linked Agammaglobulinemia). Uma une-XLA (X-Linked Agammaglobulinemia), amantombazane akho azoba ngabathwali. Umeluleki wezakhi zofuzo noma udokotela oye wayala ukuhlolwa uzokunikeza iseluleko esengeziwe ngalokhu.

Ngizinakekela kanjani?

Indlela engcono kakhulu yokuzinakekela nge-XLA (X-Linked Agammaglobulinemia) ukubeka impilo yakho phambili . Gcina ama-aphoyintimenti kadokotela wakho. Funda ukuqaphela izimpawu zokutheleleka. Buza udokotela wakho ukuthi wenzeni uma uthola izimpawu zokutheleleka.

Kufanele ngimbone nini udokotela?

Kungcono ukukhuluma nodokotela ezimweni ezinjengalezi:

• Uma ingane yakho igula ngemva kokuthola umuthi wokugomela ophilayo (isib. umuthi wokugomela i-MMR, umuthi wokugomela i-chickenpox).
• Uma ingane yakho ivame ukuthola izifo ezibangelwa amagciwane .
• Uma uthola nokutheleleka ngamagciwane njalo (njengoba lokhu kungaba yisimo esifana ne-CVID, esithinta nabantu abadala).

Udokotela uzokwazi ukukutshela ukuthi lokhu kufanele kuhlolwe kabanzi noma cha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kungaba usizo ngawe ukubuza imibuzo efana nalena uma ubona udokotela wakho:

• Yiziphi izimpawu zokutheleleka okufanele ngiziqaphele?
• Yini okufanele ngiyenze uma ngicabanga ukuthi mina noma ingane yami sinesifo?
• Yiziphi izindlela zokwelapha?
• Kukangaki mina noma ingane yami sidinga ukwelashwa?

Kuvamile ukuthi izingane ezincane zigule njalo. Kodwa uma ingane yakho ithola izifo ezibangelwa amagciwane njalo, kungase kube nokunye okubangela lokho. Khuluma nodokotela wakho nganoma yiziphi izinkinga onazo. Ukuthola ukuxilongwa nokwelashwa kusenesikhathi kuyindlela engcono kakhulu yokuthola imiphumela emihle kakhulu.

Uma uphila ne-XLA (X-Linked Agammaglobulinemia) – isimo sofuzo lapho umzimba wakho ungakhiqizi khona amaseli e-B ngendlela efanele – landela imiyalelo kadokotela wakho ngqo. Kubaluleke kakhulu ukukwazi ukubona izimpawu zokutheleleka ukuze uthole ukwelashwa ngokushesha okukhulu.

Izinto ezibaluleke kakhulu okufanele uzikhumbule kulesi sihloko

Kulungile, ngakho-ke nazi izinto ezimbalwa okudingeka uzikhumbule kulokho esikhulume ngakho nge-XLA (X-Linked Agammaglobulinemia):

• Kuyini i-XLA (i-X-Linked Agammaglobulinemia)?Isifo esingavamile sofuzo esithinta kakhulu abafana .
• Lokhu kwenzeka lapho ama -B-cell omzimba engakhuli kahle , okuholela ekunciphiseni kwama-antibodies kanye nokutheleleka njalo kwamagciwane .
• Izinto ezifana nama-tonsils nama-adenoids zingancipha noma zinyamalale.
• Nakuba kungekho ikhambi eliqondile lalokhu, lingalawulwa kahle ngokwelashwa impilo yonke (RIgG) kanye nokwelashwa ngama-antibiotic ngokushesha.
• Akukuhle ukunikeza laba bantu imijovo ephilayo.
• Uma ingane yakho yomfana igula kakhulu njalo, kubaluleke kakhulu ukufuna iseluleko sezokwelapha ngokushesha. Ukuxilongwa kusenesikhathi kanye nokwelashwa kuzosiza kakhulu ekusizeni ingane yakho iphile impilo evamile.

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unemibuzo, ungangabazi ukukhuluma nodokotela wakho womndeni!

I - agammaglobulinemia exhumene ne-X, i-XLA, amaseli e-B, isimiso somzimba sokuzivikela, izifo zofuzo, ukugula okuvamile, abafana, ama-antibodies, i-gene ye-BTK, ukwelashwa kwe-RIgG