Ingabe ingane yakho encane inalezi zimpawu? Ake sixoxe nge-Wiskott-Aldrich Syndrome.

Ingabe ingane yakho encane iyagula ngaso sonke isikhathi? Ingabe ngezinye izikhathi iba nezinkinga zesikhumba ezifana ne-eczema, ingabe yopha kakhulu ngisho nangenxeba elincane, noma ingabe ihlala ishaya yonke indawo? Nakuba lokhu kungase kubonakale kujwayelekile, ngezinye izikhathi kungase kube nesimo esingavamile sezakhi zofuzo ngemuva kwalokhu esingakakuzwa okuningi ngaso. Esinye salezo zimo yi-Wiskott-Aldrich Syndrome. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla.

Iyini le Wiskott-Aldrich Syndrome?

Kalula nje, lesi yisimo esingavamile kakhulu sofuzo . Sithinta kakhulu amasosha omzimba wengane yakho kanye nokusebenza kwamaseli athile egazini. Lokhu kungabangela izimpawu eziningana ngesikhathi esisodwa. Lezi zifaka:

• I-Eczema: Isimo sesikhumba esibangela amabala omile futhi alumayo esikhumbeni.
• Ukuntuleka kwamasosha omzimba: Amaseli amhlophe egazi alwa nezifo emzimbeni awasebenzi kahle.
• Ukopha nokuklwebheka: Ngisho nokuthinta okuncane kakhulu kungabangela ukopha, futhi ukuklwebheka kungenzeka ezindaweni ezithile ngenxa yobunzima bokuklwebheka.

Lesi simo ngezinye izikhathi singaholela ezinkingeni ezisongela ukuphila. Singase futhi sinciphise isikhathi sakho sokuphila. Kodwa-ke, ngokwelashwa kwamanje, lezi zingozi zingancishiswa kakhulu .

Sivame kangakanani lesi simo?

Lokhu empeleni akuvamile . Ngokwezibalo, kulinganiselwa ukuthi bathathu kuphela kwabafana abayizigidi abathinteka yi-Wiskott-Aldrich Syndrome. Ngisho nasezweni elifana neMelika, kunabantu abangaphansi kuka-5,000 abanalesi simo. Sithinta kakhulu abafana , futhi akuvamile kakhulu ngamantombazane ukuba naso.

Iyini inkinga ehlobene ne-WAS?

Udokotela wakho angase futhi abhekisele ku-Wiskott-Aldrich Syndrome njengesifo esihlobene ne-WAS. Lokhu kubhekisela ezimweni ezithinta isimiso somzimba sokuzivikela ngenxa yokuguquka kwezakhi zofuzo ze-WAS. Isibonelo, i-thrombocytopenia exhunywe ku-X nayo iyisifo esihlobene ne-WAS.

Kodwa-ke, isimo esibizwa ngokuthi ``congenital neutropenia'' sibangelwa ukuguquka kwezakhi zofuzo okuhlukile, okungahlobene nezakhi zofuzo ze-``WAS''. Odokotela baqaphela lesi simo kuphela ngemva kokuba ingane ithole ukutheleleka okukhulu kwamagciwane.

Ziyini izimpawu ze-Wiskott-Aldrich Syndrome?

Sesivele sishilo ukuthi kunezimpawu ezintathu eziyinhloko zalesi simo. Ake sizibheke ngemininingwane ethe xaxa.

• I-Eczema: Lokhu kubangela ukuthi isikhumba some kakhulu futhi silume., ngezinye izikhathi kungaba bomvu futhi kube namaqhubu. Kufana ne-eczema etholwa ezinye izingane ezincane, kodwa lokhu kungaba kubi kakhulu.

• Ukuntuleka kwamasosha omzimba: Lesi simo senzeka lapho amangqamuzana amhlophe egazi asiza ukugcina imizimba yethu iphilile engasebenzi kahle. Lokhu kunciphisa ikhono lomzimba lokulwa nezifo . Ngezinye izikhathi amasosha omzimba angaqala ngisho nokuhlasela umzimba wawo. Lokhu kungaholela ekuthelelekeni okuvamile, kanye nezimo ezifana ne-rheumatoid arthritis, i-vasculitis (ukuvuvukala kwemithambo yegazi), i-anemia (inani eliphansi legazi), i-leukemia (uhlobo lomdlavuza wegazi), noma i-lymphoma (uhlobo lomdlavuza wama-lymph node).

• Izinkinga zokopha (i-Microthrombocytopenia): Lokhu kwenzeka lapho inani lama-platelet, asiza igazi ukuthi lijiye, lincipha noma liba lincane kakhulu . Eqinisweni, lawa ngamaseli asiza ekumiseni ukopha. Ngakho-ke uma lawa ephansi, ngisho nokusikeka okuncane kungabangela ukopha okungayeki. Lokhu kungabangela ukuminyana , ukopha ekhaleni, ngezinye izikhathi uhudo olunegazi, ukopha ngaphansi kwesikhumba (purpura), kanye namachashazi amancane abomvu (petechiae) esikhumbeni.

Ungesabi lesi sifo ngoba nje unesinye noma ezimbili zalezi zimpawu. Kodwa uma lezi zinto ziqhubeka, kungcono ukubona udokotela.

Izinsana ezinesimo esibi kakhulu se-Wiskott-Aldrich syndrome (ukulahlekelwa ukusebenza kahle) zingase zibonise nezimpawu ezifana nalezi:

• I-Eczema
• Ukuntuleka komzimba
• I-thrush enzima
• Inyumoniya

Ngezinye izikhathi, ezimweni ze-neutropenia yokuzalwa ebangelwa yi-gene ye-GAIN-of-function WAS, ukutheleleka okukhulu kwamagciwane noma i-myelodysplastic syndrome (isifo somnkantsha wamathambo) kungavela.

Iyini imbangela yalokhu?

Imbangela eyinhloko ye-Wiskott-Aldrich Syndrome ushintsho lwezakhi zofuzo, noma ukuguquka kwezakhi zofuzo, ku-WAS gene . Le gene ye-WAS itholakala engalweni emfushane ye-chromosome yethu engu-X. Le gene ikhiqiza iphrotheni ye-Wiskott-Aldrich syndrome. Le phrotheni ikhona kuwo wonke amaseli ethu egazi.

Le phrotheni ye-Wiskott-Aldrich syndrome isiza amangqamuzana ethu ukuba anamathele kwamanye amangqamuzana nezicubu ngokusebenzisa "ukunamathela." Lokhu kunamathela kubaluleke kakhulu ngoba kusiza amasosha omzimba wethu ukuba anqobe izitha ezifana namagciwane namagciwane angena emzimbeni.

Ngakho-ke, uma une-genetic mutation ku-gene yakho ethi 'WAS', amaseli akho egazi ngeke akwazi ukunamathela kwamanye amaseli nezicubu ngendlela efanele. Lokhu kuzovimbela isimiso somzimba sokuzivikela ekwenzeni umsebenzi waso ngendlela efanele. Yilokho okubangela izimpawu ze-Wiskott-Aldrich Syndrome.

Ku-neutropenia yokuzalwa, ukuguquka kwezakhi zofuzo kumisa ukuhamba kwezinhlobo ezimbili zamaseli, ama-neutrophil nama-monocyte, okuvimbela isimiso somzimba sokuzivikela ekukhululeni la maseli ukuze alwe nezifo.

Ingabe lokhu kuyinto evela ezizukulwaneni ngezizukulwane?

Yebo, lesi yisimo esingazuzwa njengefa. Sizuzwa njengefa ngendlela ethi "X-linked recessive". Lokhu kusho ukuthi ingane kumele ithole ushintsho lwezakhi zofuzo kubazali bobabili.

Sizuza ama-chromosome ethu ocansi kubazali bethu. Abesilisa bane-chromosome eyodwa ethi 'X' kanye ne-chromosome eyodwa ethi 'Y'. Abesifazane bane-chromosome ezimbili ezithi 'X'. Lesi sifo sithinta kakhulu abafana, ngoba lokhu kuguquka kwezakhi zofuzo kuthinta ukusebenza kwe-chromosome yabo ethi 'X' kuphela.

Nakuba lesi sifo sinephethini yomndeni, iziguli ezingaphezu kuka-30% ziyasithola ``de novo'' , okusho ukuthi sibangelwa ukuguquka kwezakhi zofuzo okusha okwenzeka ngesikhathi sokukhulelwa.

Ukubona kanjani lokhu?

Udokotela uvame ukuxilonga i-Wiskott-Aldrich Syndrome ngesikhathi sobuntwana noma ebuntwaneni . Ingane iyahlolwa bese kwenziwa izivivinyo ezidingekayo. Izimpawu zokuqala zalesi simo kungaba igazi esitulweni, ukopha okungavamile, noma ukuklwebheka. Udokotela angenza izivivinyo ezilandelayo ukuqinisekisa lesi simo:

• Inani eliphelele legazi (i-CBC)
• Ukuhlolwa kwegazi lofuzo
• I-smear yegazi engaphandle

Uma lokhu kungabonakali ebuntwaneni, izimpawu zibonakala kakhulu ebuntwaneni.

Uma ingane yakho ibonisa izimpawu zesimiso somzimba sokuzivikela esibuthakathaka, njengokutheleleka okuvamile, kungase kudingeke ukuhlolwa okwengeziwe ngesikhathi sobuntwana. Lokhu kungenxa yokuthi umzimba wengane ungase ungakwazi ukulwa namagciwane namagciwane ngendlela efanele, futhi ungase ungasabeli kahle kweminye imigomo.

Udokotela angenza ukuhlolwa kwegazi ukuhlola ukuthi umzimba wengane yakho ukhiqiza yini ama-antibodies ngemva kokugoma. Lawa ma-antibodies yiwo adala impendulo yokuzivikela ezifweni ezingathi sína. Ngaphezu kwalokho, kuzokwenziwa olunye ukuhlolwa kwegazi ukuhlola amaseli amhlophe egazi lengane yakho, ikakhulukazi ama-T-cell nama-immunoglobulins (aphinde asize ekwenzeni ama-antibodies).

Yiziphi izindlela zokwelapha lokhu?

I-Wiskott-Aldrich Syndrome ingelashwa ngezindlela ezilandelayo:

• Yelapha izifoAma-antibiotic noma imithi yokulwa namagciwane.
• Kunikezwa ama-antibody (immunoglobulin) ukuze kubuyiselwe ama-antibodies aphelile.
• Ukumpontshelwa igazi nge-platelet yezinkinga zokopha.
• I-Eczema ingelashwa ngemithi yokwelapha kanye nama-moisturizer athengiswa ngaphandle kwemithi kadokotela (OTC) .

Uma ingane yakho ithola isifo noma ukutheleleka, kungaba yingozi enkulu futhi kusongela nokuphila . Ukuze uvikele impilo yengane yakho, ungazama nalezi zindlela zokwelapha:

• Ukufakelwa kwamaseli e-stem : Lokhu kungaba yisisombululo esingcono kakhulu esitholakalayo njengamanje.
• Ukwelashwa nge-gene (lokhu kusesesigabeni socwaningo).

Udokotela wengane yakho uzoxoxa nawe ngalezi zindlela zokwelapha futhi ahlele ukwelashwa ukuze athole imiphumela emihle kakhulu enganeni yakho futhi athuthukise ikhwalithi yempilo yayo.

Uma ingane yami inalesi simo, yini okufanele ngiyilindele?

Uma ingane yakho ine-Wiskott-Aldrich Syndrome, udokotela wakho uzokwakha uhlelo lokwelapha ukusiza ukuvimbela izinkinga ezisongela impilo ezingase zenzeke ngoba amasosha omzimba wayo angasebenzi kahle. Ngemva kokuxilongwa, ungathunyelwa ukuze uthole ukwelulekwa ngofuzo . Lokhu kungakusiza wena nomndeni wakho nifunde kabanzi ngalesi simo kanye nezinketho zokwelapha ezitholakalayo.

Ngisho nezifo ezivamile zasebuntwaneni njenge-chickenpox zingabangela izinkinga ezinkulu zempilo enganeni yakho. Ngenxa yokuthi amasosha omzimba wayo awanamandla njengabanye abantwana abangontanga yayo, kungadingeka ukuthi ibone udokotela ngokushesha. Ukwelapha izifo kanye nokutheleleka kusenesikhathi kungakusiza uthole imiphumela engcono.

Udokotela wakho angakutshela ukuthi ungayiniki ingane yakho imijovo yegciwane eliphilayo (njengomjovo womkhuhlane) ngoba uhlobo oluphilayo lwegciwane lungenza ingane yakho igule. Ngisho noma ingane yakho ithola eminye imijovo, ingase ingasebenzi kahle. Uma ingane yakho igula ngegciwane, ukwelashwa kusenesikhathi ngemithi yokulwa namagciwane kuvame ukusebenza kahle. Kodwa ngisho nezifo ezivamile zingabangela izinkinga.

Ingane yakho ingase idinge ukuhlolwa njalo komdlavuza impilo yayo yonke ngoba isengozini enkulu yokuthola izinhlobo ezithile zomdlavuza, ikakhulukazi i-leukemia noma i-lymphoma .

Ingabe ikhona ikhambi eliphelele lalokhu?

Yebo, ukufakelwa kweseli le-stem (okubizwa nangokuthi ukufakelwa kwe-bone marrow) kungayilapha i-Wiskott-Aldrich Syndrome.Lezi zinhlobo zokufakelwa zisusa amaseli okuqala omzimba akha igazi bese ziwafaka amaseli okuqala anempilo. Ngenxa yokuthi i-Wiskott-Aldrich Syndrome ibangela ukwakheka kwamaseli egazi angajwayelekile, ukufakelwa kwamaseli okuqala kungathatha lawo maseli ngamaseli anempilo, asebenzayo.

Ingabe i-Wiskott-Aldrich Syndrome iyabulala?

I-Wiskott-Aldrich Syndrome ingaba yingozi . Kuke kwabikwa ngaphambilini ukuthi izingane ezingenayo i-stem cell transplant zinesikhathi sokuphila esiyiminyaka engaba ngu-15. Izimpawu ezibangelwa ukutheleleka, ukopha ebuchosheni bengane, ukutheleleka okukhulu noma umdlavuza kungaba yingozi empilweni, futhi ukufa kungavela ngokushesha.

Kodwa-ke, ngokuthuthuka kwesayensi yezokwelapha, izinketho zokwelapha zamanje zenze kwaba nokwenzeka ukuthuthukisa isikhathi sokuphila sengane iyonke.

Ingabe lokhu kungavinjelwa?

Lesi yisimo sofuzo futhi asinakuvinjelwa . Uma uhlela ukuba nezingane futhi ufuna ukwazi ngengozi yakho yokuba nengane enesifo sofuzo, khuluma nodokotela wakho mayelana nokuhlolwa kofuzo .

Ngingambona nini udokotela wengane yami?

Uma ingane yakho igula futhi itholakale ine-Wiskott-Aldrich Syndrome, xhumana nodokotela wayo ngokushesha . Ngenxa yokuthi amasosha omzimba ayo awasebenzi kahle, angase athole izifo kaningi. Udokotela wakho angelapha ukugula noma ukutheleleka, noma avimbele izinkinga ezisongela ukuphila.

Bona udokotela wakho uma ingane yakho inanoma yikuphi kwalokhu okulandelayo:

• Igazi esitulweni (Uhudo olunegazi)
• Ukopha igazi njalo
• Izindawo ezinkulu zokuphuka
• Izinguquko esikhumbeni sabo
• Ukutheleleka okuphindaphindiwe (isb. i-chickenpox noma i-thrush enzima, ukutheleleka ngamagciwane)

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Ungabuza udokotela imibuzo efana nale:

• Ingakanani iminyaka yokuphila kwengane yami?
• Yimiphi imikhiqizo engingayisebenzisa ukwelapha i-eczema yengane yami?
• Ingabe ikhona imiphumela emibi ekwelashweni okukhuthazayo?
• Ingabe ingane yami ifanelekile ukufakelwa i-stem cell?

Uyini umehluko phakathi kwe-Wiskott-Aldrich Syndrome kanye ne-Ataxia-Telangiectasia?

I-Wiskott-Aldrich Syndrome kanye ne-Ataxia-Telangiectasia zombili ziyizimo zofuzo ezithinta ukusebenza kwesimiso somzimba sokuzivikela.Kodwa-ke, i-ataxia-telangiectasia ibangelwa ukuguquka kwezakhi zofuzo ze-ATM. Kuthinta ukunyakaza kwakho kanye nokuxhumana kwakho. Kubangela nokuthi imithambo yegazi ibonakale i-zig-zag esikhumbeni sakho.

Izinto ezibaluleke kakhulu okudingeka uzikhumbule

Ukuthola ukuthi ingane yakho inesifo esingavamile sofuzo esizoyithinta impilo yayo yonke kungaba yinto ekhungathekisayo. Kungaba yinto eshaqisayo. Kodwa ungakhathazeki. Udokotela wengane yakho uzokutshela okwengeziwe ngalesi simo nokuthi ungayisiza kanjani ingane yakho ekhaya. Amasosha omzimba wengane yakho angase angasebenzi kahle, ngakho angase agule kaningi.

Kubalulekile ukuzinakekela ngenkathi unakekela ingane yakho. Abazali abaningi kanye nemindeni bathola induduzo enkulu kanye nokusekelwa lapho bekhuluma nomeluleki wezempilo yengqondo .

Ngokuthuthuka kwezindlela zokwelapha zamanje, izingane ezinalesi simo seziyakwazi ukuphila impilo egcwele nejabulisayo. Ngakho-ke hlala uqinile.

I- Wiskott-Aldrich syndrome, izifo zofuzo, amasosha omzimba, i-eczema, ukopha, ukufakelwa kweseli le-stem, impilo yengane