Ingaba umntwana wakho omncinci unazo ezi mpawu? Makhe sithethe ngeWiskott-Aldrich Syndrome.

Ngaba umntwana wakho uhlala egula? Ngaba ngamanye amaxesha uneengxaki zolusu ezifana ne-eczema, ngaba wopha kakhulu nokuba unesilonda esincinci, okanye uhlala enesilonda kuyo yonke indawo? Nangona ezi zinto zisenokubonakala ziqhelekile, ngamanye amaxesha kunokubakho imeko engaqhelekanga yemfuza emva koku esingazange sive kangako ngayo. Enye yezi meko yiWiskott-Aldrich Syndrome. Makhe sithethe ngale nto ngeenkcukacha ezithe vetshe namhlanje.

Yintoni le Wiskott-Aldrich Syndrome?

Ngamafutshane, le yimeko engaqhelekanga kakhulu yemfuza . Ichaphazela kakhulu inkqubo yomzimba yomntwana wakho kunye nokusebenza kweeseli ezithile egazini. Oku kunokubangela iimpawu ezininzi ngaxeshanye. Ezi ziquka:

• I-Eczema: Imeko yesikhumba ebangela amabala omileyo narhawuzelelayo eluswini.
• Ukunqongophala komzimba: Iiseli ezimhlophe zegazi ezilwa nezifo emzimbeni azisebenzi kakuhle.
• Ukopha nokukrwela: Nokuba kukuchukumisa nje okuncinci kunokubangela ukopha, kwaye ukukrwela kunokwenzeka kwiindawo ezithile ngenxa yobunzima bokujiya kwegazi.

Le meko ngamanye amaxesha inokukhokelela kwiingxaki ezisongela ubomi. Inganciphisa nobomi bakho. Nangona kunjalo, ngonyango lwangoku, ezi ngozi zingancitshiswa kakhulu .

Ixhaphake kangakanani le meko?

Oku kunqabile kakhulu . Ngokwezibalo, kuqikelelwa ukuba bathathu kuphela kwizigidi zamakhwenkwe abachaphazeleka yiWiskott-Aldrich Syndrome. Kwanakwilizwe elifana neMelika, kukho abantu abangaphantsi kwama-5,000 abanale meko. Ichaphazela kakhulu abafana , kwaye kunqabile kakhulu ukuba amantombazana ayifumane.

Yintoni isifo esinxulumene ne-WAS?

Ugqirha wakho angabhekisa kwiWiskott-Aldrich Syndrome njengesifo esinxulumene neWAS. Oku kubhekisa kwiimeko ezichaphazela inkqubo yomzimba yokuzikhusela ngenxa yotshintsho kwi-WAS gene. Umzekelo, i-X-linked thrombocytopenia ikwasisifo esinxulumene neWAS.

Nangona kunjalo, imeko ebizwa ngokuba yi-"congenital neutropenia" ibangelwa kukutshintsha kwezakhi zofuzo okwahlukileyo, okungahambelaniyo ne-"WAS" gene. Oogqirha bayayibona le meko kuphela emva kokuba umntwana efumene usulelo olukhulu lwebhaktheriya.

Zithini iimpawu zeWiskott-Aldrich Syndrome?

Sele sikhankanyile ukuba kukho iimpawu ezintathu eziphambili zale meko. Masizijonge ngokweenkcukacha ezithe vetshe.

• I-Eczema: Oku kubangela ukuba ulusu lome kakhulu kwaye lurhawuzelele., ngamanye amaxesha inokuba bomvu ize ibe namaqhuqhuva. Ifana ne-eczema efunyanwa ngabanye abantwana abancinci, kodwa oku kunokuba nzima ngakumbi.

• Ukunqongophala komzimba: Le meko yenzeka xa iiseli ezimhlophe zegazi ezinceda ukugcina imizimba yethu isempilweni zingasebenzi kakuhle. Oku kunciphisa amandla omzimba okulwa nezifo . Ngamanye amaxesha inkqubo yomzimba yokuzikhusela inokuqalisa ukuhlasela umzimba wayo. Oku kunokukhokelela kwiintsholongwane ezixhaphakileyo, kunye neemeko ezifana ne-rheumatoid arthritis, i-vasculitis (ukudumba kwemithambo yegazi), i-anemia (ukubala kwegazi okuphantsi), i-leukemia (uhlobo lomhlaza wegazi), okanye i-lymphoma (uhlobo lomhlaza wee-lymph nodes).

• Iingxaki zokopha (Microthrombocytopenia): Kulapho inani leeplatelet, ezinceda igazi ukuba lijijeke, lincipha okanye libe lincinci kakhulu . Enyanisweni, ezi ziiseli ezinceda ekumiseni ukopha. Ngoko ke xa ezi ziphantsi, nokuba kuncinci okubangela ukopha okungapheliyo. Oku kunokubangela ukukrweleka , ukopha empumlweni, ngamanye amaxesha urhudo olunegazi, ukopha phantsi kolusu (purpura), kunye namachaphaza amancinci abomvu (petechiae) eluswini.

Musa ukoyika esi sifo kuba nje unempawu enye okanye ezimbini kwezi. Kodwa ukuba ezi zinto ziyaqhubeka, kungcono ukubona ugqirha.

Iintsana ezinesimo esibi kakhulu se-Wiskott-Aldrich syndrome (ukungasebenzi kakuhle) nazo zinokubonisa iimpawu ezifana nezi:

• I-Eczema
• Ukunqongophala komzimba
• I-thrush eqatha
• Ukukrala kwemiphunga

Ngamanye amaxesha, kwiimeko ze-neutropenia yokuzalwa ebangelwa yi-gain-of-function WAS gene, izifo ezinzulu zebhaktheriya okanye i-myelodysplastic syndrome (isifo somongo wethambo) zinokwenzeka.

Yintoni isizathu soku?

Eyona nto ibangela iWiskott-Aldrich Syndrome kukutshintsha kwezakhi zofuzo, okanye utshintsho kwizakhi zofuzo, kwi-WAS gene . Le WAS gene ikwingalo emfutshane ye-X chromosome yethu. Le gene ivelisa iproteni yeWiskott-Aldrich syndrome. Le protein ikhona kuzo zonke iiseli zethu zegazi.

Le protein ye-Wiskott-Aldrich syndrome inceda iiseli zethu zinamathele kwezinye iiseli kunye nezicubu ngokusebenzisa "ukunamathela." Oku kunamathela kubaluleke kakhulu kuba kunceda inkqubo yethu yomzimba yoyise iintshaba ezifana neebhaktheriya kunye neentsholongwane ezingena emzimbeni.

Ngoko ke, ukuba une-genetic change kwi-gene yakho ethi 'WAS', iiseli zakho zegazi aziyi kukwazi ukunamathela kwezinye iiseli kunye nezicubu ngokufanelekileyo. Oku kuya kuthintela inkqubo yomzimba yokuzikhusela ekwenzeni umsebenzi wayo ngokufanelekileyo. Yiyo loo nto ibangela iimpawu ze-Wiskott-Aldrich Syndrome.

Kwi-neutropenia yokuzalwa, utshintsho lwemfuza luyekisa ukuhamba kweendidi ezimbini zeeseli, ii-neutrophils kunye nee-monocytes, nto leyo ethintela inkqubo yomzimba yokuzikhusela ekukhupheni ezi seli ukuze zilwe nosulelo.

Ingaba le yinto evela kwizizukulwana ngezizukulwana?

Ewe, le yimeko enokuzuzwa njengelifa. Izuzwa njengelifa ngendlela ethi ``X-linked recessive``. Oku kuthetha ukuba umntwana kufuneka afumane utshintsho lwemfuza kubazali bobabini.

Iichromosome zethu zesini sizizuza njengelifa kubazali bethu. Amadoda anechromosome enye ethi `X` kunye nenye ethi `Y`. Abafazi banechromosome ezimbini ezithi `X`. Esi sifo sichaphazela kakhulu amakhwenkwe, kuba olu tshintsho lwemfuza luchaphazela ukusebenza kwechromosome yabo ethi `X` kuphela.

Nangona esi sifo sinendlela yosapho, ngaphezu kwama-30% abo bonke abaguli siba naso ``de novo'' , oko kuthetha ukuba sibangelwa lutshintsho olutsha lwemfuza olwenzeka ekukhulelweni.

Uyibona njani le nto?

Ugqirha udla ngokuxilonga iWiskott-Aldrich Syndrome ngexesha lobuntwana okanye ebuntwaneni . Umntwana uyahlolwa kwaye kwenziwa iimvavanyo ezifunekayo. Iimpawu zokuqala zale meko zinokuba ligazi esitulweni, ukopha okungaqhelekanga, okanye ukukrweleka. Ugqirha unokwenza ezi vavanyo zilandelayo ukuqinisekisa imeko:

• Ubalo lwegazi olupheleleyo (i-CBC)
• Uvavanyo lwegazi lwe-genetic
• I-smear yegazi engaphandle

Ukuba oku akubonwa ebuntwaneni, iimpawu zibonakala ngakumbi ebuntwaneni.

Ukuba umntwana wakho ubonisa iimpawu zenkqubo yomzimba yokuzikhusela ebuthathaka, ezifana nosulelo oluqhelekileyo, uvavanyo olongezelelweyo lunokufuneka ngexesha lobuntwana. Oku kungenxa yokuba umzimba womntwana usenokungakwazi ukulwa neebhaktheriya kunye neentsholongwane ngokufanelekileyo, kwaye usenokungaphenduli kakuhle kwezinye izitofu.

Ugqirha angenza uvavanyo lwegazi ukujonga ukuba umzimba womntwana wakho uvelisa ii-antibodies emva kokugonywa. Ezi antibodies zezona zidala impendulo yomzimba yokuzikhusela kwizifo ezinzulu. Ukongeza, kuya kwenziwa olunye uvavanyo lwegazi ukujonga iiseli ezimhlophe zegazi lomntwana wakho, ngakumbi ii-T-cells kunye nee-immunoglobulins (ezikwanceda ekwenzeni ii-antibodies).

Zithini iindlela zonyango zoku?

I-Wiskott-Aldrich Syndrome inokunyangeka ngeendlela ezilandelayo:

• Nyanga izifoIi-antibiotics okanye amayeza e-antiviral.
• Kunikwa ii-antibody (immunoglobulin) ukuze kubuyiselwe ii-antibodies eziphelileyo.
• Utofelo-gazi olusebenzisa iiplatelet ukuze kuthintelwe iingxaki zokopha.
• I-eczema inganyangwa ngamayeza asetyenziswa ngaphandle kwemithi kunye nezithambisi-mafutha ezithengiswa ngaphandle kwekhawuntara (OTC) .

Ukuba umntwana wakho ufumana isifo okanye usulelo, kunokuba yingozi kwaye kubeke ubomi bakhe esichengeni . Ukukhusela ubomi bomntwana wakho, ungazama olu nyango:

• Ukufakelwa kweeseli zesiqu : Esi sisisombululo esingcono kakhulu esifumanekayo okwangoku.
• Unyango lwe-gene (oku kusesekwinqanaba lophando).

Ugqirha womntwana wakho uza kuxoxa nawe ngezi ndlela zonyango aze acebe unyango ukuze afumane iziphumo ezilungileyo kumntwana wakho aze aphucule umgangatho wobomi bakhe.

Ukuba umntwana wam unale meko, ndimele ndilindele ntoni?

Ukuba umntwana wakho une-Wiskott-Aldrich Syndrome, ugqirha wakho uza kuyila isicwangciso sonyango ukunceda ukuthintela iingxaki ezisongela ubomi ezinokubakho ngenxa yokuba amajoni akhe omzimba angasebenzi kakuhle. Emva kokuxilongwa, ungathunyelwa kwingcebiso yemfuza . Oku kunokukunceda wena nosapho lwakho nifunde ngakumbi ngale meko kunye neendlela zonyango ezikhoyo.

Nezifo eziqhelekileyo zobuntwana ezifana ne-chickenpox zinokubangela iingxaki ezinkulu zempilo kumntwana wakho. Ngenxa yokuba inkqubo yakhe yokuzikhusela yomzimba ayinamandla njengabanye abantwana abaneminyaka yakhe, unokufuna ukubona ugqirha ngoko nangoko. Ukunyanga izifo kunye nosulelo kwangethuba kunokukunceda ufumane iziphumo ezingcono.

Ugqirha wakho angakuxelela ukuba ungamniki umntwana wakho imijovo yentsholongwane ephilayo (njengomjovo womkhuhlane) kuba uhlobo oluphilayo lwentsholongwane lunokubangela ukuba umntwana wakho agule. Nokuba umntwana wakho ufumana imijovo ethile, isenokungasebenzi kakuhle. Ukuba umntwana wakho ugula yintsholongwane, unyango lwangoko ngamayeza okulwa neentsholongwane luhlala lusebenza kakuhle. Kodwa nezifo eziqhelekileyo zinokubangela iingxaki.

Umntwana wakho usenokufuna ukuhlolwa rhoqo komhlaza ubomi bakhe bonke kuba usengozini enkulu yokuhlaselwa ziintlobo ezithile zomhlaza, ingakumbi i-leukemia okanye i-lymphoma .

Ngaba ikho indlela epheleleyo yokunyanga oku?

Ewe, ukufakelwa kweeseli ze-stem (okubizwa ngokuba yi-bone marrow transplant) kunokunyanga i-Wiskott-Aldrich Syndrome.Olu hlobo lokufakelwa izicubu lususa iiseli ze-stem ezakha igazi emzimbeni kwaye zithathe indawo yazo ngeeseli ze-stem eziphilileyo. Ngenxa yokuba i-Wiskott-Aldrich Syndrome ibangela ukwakheka kweeseli zegazi ezingaqhelekanga, ukufakelwa iseli ye-stem kunokutshintsha ezo seli ngeeseli eziphilileyo nezisebenzayo.

Ngaba iWiskott-Aldrich Syndrome iyabulala?

I-Wiskott-Aldrich Syndrome inokubulala . Ngaphambili kuye kwaxelwa ukuba abantwana abangenayo i-stem cell transplant banokuphila iminyaka emalunga ne-15. Iimpawu ezibangelwa zizifo, ukopha engqondweni yomntwana, izifo ezinzima okanye umhlaza zinokuba yingozi ebomini, kwaye ukufa kunokuvela ngokukhawuleza.

Nangona kunjalo, ngokuhambela phambili kwesayensi yezonyango, iindlela zonyango ezikhoyo zenze ukuba kube nokwenzeka ukuphucula ubomi bomntwana ngokubanzi.

Ngaba oku kungathintelwa?

Le yimeko yemfuza kwaye ayinakuthintelwa . Ukuba uceba ukuba nabantwana kwaye ufuna ukwazi umngcipheko wokuba nomntwana onesifo semfuza, thetha nogqirha wakho malunga novavanyo lwemfuza .

Ndifanele ndibonane nogqirha womntwana wam nini?

Ukuba umntwana wakho uyagula kwaye ufunyaniswe ene-Wiskott-Aldrich Syndrome, qhagamshelana nogqirha wakhe ngoko nangoko . Ngenxa yokuba amajoni akhe omzimba angasebenzi kakuhle, anokufumana izifo rhoqo. Ugqirha wakho unokunyanga isifo okanye usulelo, okanye athintele iingxaki ezisongela ubomi.

Bona ugqirha wakho ukuba umntwana wakho unenye yezi zinto zilandelayo:

• Igazi elisesitulweni (Urhudo olunegazi)
• Ukopha rhoqo kwempumlo
• Iindawo ezinkulu zokutyumza
• Utshintsho kulusu lwabo
• Usulelo oluphindaphindayo (umz. i-chickenpox okanye i-thrush enzima, usulelo lweebhaktheriya)

Ndingayibuza yiphi imibuzo ugqirha?

Ungabuza ugqirha imibuzo efana nale:

• Ingakanani iminyaka yobomi bomntwana wam?
• Zeziphi iimveliso endinokuzisebenzisa ukunyanga i-eczema yomntwana wam?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga kunyango olucebisayo?
• Ingaba umntwana wam ufanelekile ukufakelwa i-stem cell?

Yintoni umahluko phakathi kweWiskott-Aldrich Syndrome kunye neAtaxia-Telangiectasia?

I-Wiskott-Aldrich Syndrome kunye ne-Ataxia-Telangiectasia zombini ziimeko zemfuza ezichaphazela ukusebenza kwenkqubo yomzimba yokuzikhusela.Nangona kunjalo, i-ataxia-telangiectasia ibangelwa kukuguquka kwejini ye-ATM. Ichaphazela intshukumo yakho kunye nokulungelelaniswa kwayo. Ikwabangela ukuba imithambo yegazi ibonakale ngathi iyazijika eluswini lwakho.

Izinto ezibaluleke kakhulu ekufuneka uzikhumbule

Ukufumanisa ukuba umntwana wakho unesifo esingaqhelekanga semfuza esiya kumchaphazela ubomi bakhe bonke kunokuba nzima kakhulu. Kunokuba yinto eyoyikisayo. Kodwa ungakhathazeki. Ugqirha womntwana wakho uza kukuxelela okungakumbi ngesi sifo nendlela onokumnceda ngayo umntwana wakho ekhaya. Inkqubo yomzimba yomntwana wakho isenokungasebenzi kakuhle, ngoko ke banokugula rhoqo.

Kubalulekile ukuzinyamekela ngelixa unyamekela umntwana wakho. Abazali abaninzi kunye neentsapho bafumana intuthuzelo enkulu kunye nenkxaso xa bethetha nomcebisi wezempilo yengqondo .

Ngenxa yokuqhubela phambili kunyango lwangoku, abantwana abanale meko ngoku bayakwazi ukuphila ubomi obupheleleyo nobonwabisayo. Ngoko ke hlala uqinile.

I- Wiskott-Aldrich syndrome, izifo zemfuza, inkqubo yomzimba yokuzikhusela, i-eczema, ukopha, ukufakelwa kweeseli ze-stem, impilo yomntwana