So wo ba kumaa no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Wiskott-Aldrich Syndrome ho asɛm.

So wo ba kumaa no yare bere nyinaa? So ɛtɔ mmere bi a ɔwɔ honam ani haw ahorow te sɛ eczema, so mogya tu no pii esiane akuru ketewaa bi mpo nti, anaasɛ bere nyinaa ne honam ani yare wɔ baabiara? Ɛwom sɛ eyinom betumi ayɛ te sɛ nea ɛyɛ nea ɛfata de, nanso ɛtɔ mmere bi a awosu mu tebea bi a ɛntaa nsi wɔ eyi akyi a yɛntee ho asɛm pii. Tebea a ɛte saa no biako ne Wiskott-Aldrich Syndrome. Momma yɛnka eyi ho asɛm nkɔ akyiri kakra nnɛ.

Dɛn ne Wiskott-Aldrich Yare yi?

Sɛ yɛbɛka no tiawa a, eyi yɛ awosu mu tebea a ɛntaa nsi koraa . Ɛka wo ba no nipadua mu ahoɔden a ɛko tia nyarewa ne sɛnea nkwammoaa bi a ɛwɔ mogya no mu yɛ adwuma titiriw. Eyi betumi de sɛnkyerɛnne ahorow pii aba prɛko pɛ. Eyinom bi ne:

• Eczema: Honam ani yare a ɛma honam ani fã bi yɛ kusuu na ɛyɛ yaw.
• Nkwammoaa a ɛko tia nyarewa: Mogya mu nkwammoaa fitaa a ɛko tia nyarewa wɔ nipadua no mu no ntumi nyɛ adwuma yiye.
• Mogya a ɛretu ne akuru: Sɛ obi de ne nsa ka no kakra mpo a, ebetumi ama mogya atu, na akisikuru betumi aba wɔ mmeae bi esiane sɛ ɛyɛ den sɛ mogya bɛtwetwe nti.

Ɛtɔ mmere bi a, saa tebea yi betumi de ɔhaw ahorow a ɛde ne nkwa to asiane mu aba. Ebetumi ama wo nkwa nna nso ayɛ tiaa. Nanso, sɛ wɔde mprempren ayaresa di dwuma a, asiane ahorow yi betumi atew kɛse .

Saa tebea yi abu so dɛn?

Eyi ho yɛ na ankasa . Akontaabu kyerɛ sɛ mmarimaa ɔpepem biara mu baasa pɛ na Wiskott-Aldrich Syndrome ka wɔn. Wɔ ɔman te sɛ Amerika mpo mu no, nnipa a wɔwɔ saa tebea yi nnu 5,000. Ɛka mmarimaa kɛse , na ɛntaa nsi koraa sɛ mmeawa benya bi.

Dɛn ne ɔhaw a ɛne WAS wɔ abusuabɔ?

Ebia wo duruyɛfo nso bɛka Wiskott-Aldrich Syndrome ho asɛm sɛ ɛyɛ ɔyare a ɛfa WAS ho. Eyi kyerɛ tebea horow a ɛka nipadua no mu tumi a ɛko tia nyarewa no esiane nsakrae a ɛba WAS awosu mu abɔde mu nti. Sɛ nhwɛso no, X-linked thrombocytopenia nso yɛ ɔyare a ɛfa WAS ho.

Nanso, tebea bi a wɔfrɛ no ``congenital neutropenia'' no fi awosu mu nsakrae soronko bi, a ɛne ``WAS'' awosu mu nkwaadɔm no nni abusuabɔ. Bere a abofra no anya ɔyare mmoawa a emu yɛ den akyi nkutoo na nnuruyɛfo hu saa tebea yi.

Dɛn ne Wiskott-Aldrich Syndrome ho sɛnkyerɛnne ahorow?

Yɛaka dedaw sɛ tebea yi ho sɛnkyerɛnne atitiriw abiɛsa na ɛwɔ hɔ. Momma yɛnhwɛ wɔn mu nkɔ akyiri kakra .

• Eczema: Eyi ma honam ani yɛ kusuu paa na ɛyɛ wo yaw., ɛtɔ mmere bi a ebetumi ayɛ kɔkɔɔ na ayɛ mmerɛw. Ɛte sɛ eczema a mmofra nkumaa binom nya, nanso eyi betumi ayɛ nea emu yɛ den kakra.

• Nkwammoaa a ɛko tia nyarewa: Saa tebea yi ba bere a mogya mu nkwammoaa fitaa a ɛboa ma yɛn nipadua nya apɔwmuden no ntumi nyɛ adwuma yiye no. Eyi ma nipadua no tumi a ɛde ko tia nyarewa no so tew . Ɛtɔ mmere bi mpo a nipadua no mu tumi a ɛko tia nyarewa no tumi fi ase tow hyɛ n’ankasa nipadua so. Eyi betumi ama obi anya nyarewa mpɛn pii, ne tebea horow te sɛ ntini mu yare, ntini mu yare (mogya ntini a ɛyɛ hyew), mogya a ɛtɔ (mogya dodow a ɛba fam), mogya mu kokoram (mogya mu kokoram bi), anaa lymphoma (ntini mu kokoram bi).

• Mogya a ɛtɔ ho haw (Microthrombocytopenia): Eyi ne bere a mogya mu nkwammoaa a ɛboa ma mogya no dodow so tew anaasɛ ɛyɛ ketewaa koraa . Nokwarem no, eyinom ne nkwammoaa a ɛboa ma mogya gyae. Enti sɛ eyinom sua a, ntwitwiridii ketewaa bi mpo betumi ama mogya atɔ a ennyae. Eyi betumi ama akisikuru , mogya atɔ hwene mu, ɛtɔ mmere bi a mogya ayɛ no yaw, mogya atɔ ne honam ani (purpura), ne nsensanee kɔkɔɔ nketenkete (petechiae) wɔ honam ani.

Nsuro saa yare yi esiane sɛ wowɔ saa sɛnkyerɛnne yi biako anaa abien nti. Nanso sɛ saa nneɛma yi kɔ so a, ɛbɛyɛ papa sɛ wobɛkɔ oduruyɛfo nkyɛn.

Nkokoaa a wɔwɔ Wiskott-Aldrich yare a emu yɛ den sen biara (adwuma a wɔhwere) nso betumi ada sɛnkyerɛnne ahorow te sɛ:

• Eczema a ɛma obi ho yɛ hyew
• Nkwammoaa a ɛko tia nyarewa a enni nipadua no mu
• Thrush a emu yɛ den
• Ahurututu mu yare

Ɛtɔ mmere bi a, wɔ awosu mu neutropenia a WAS awosu mu abɔde a ɛma ɛyɛ adwuma yiye na ɛde ba no mu no, ɔyare mmoawa a emu yɛ den anaa myelodysplastic syndrome (nnompe mu yare) betumi aba.

Dɛn nti na ɛte saa?

Nea ɛde Wiskott-Aldrich Syndrome ba titiriw ne awosu mu nsakrae, anaa nsakrae a ɛba WAS awosu mu abɔde mu . Saa WAS awosu mu abɔde yi wɔ yɛn X chromosome no basa tiaa no so. Saa awosu mu abɔde yi na ɛma Wiskott-Aldrich syndrome protein no ba. Saa protein yi wɔ yɛn mogya mu nkwammoaa nyinaa mu.

Saa Wiskott-Aldrich syndrome protein yi boa yɛn nkwammoaa ma ɛbata nkwammoaa ne ntini afoforo ho (adhesion). Saa adhesion yi ho hia yiye efisɛ ɛboa yɛn nipadua mu tumi a ɛko tia nyarewa no ma wodi atamfo te sɛ mmoawa ne mmoawa a wɔhyɛn nipadua no mu so nkonim.

Enti, sɛ wowɔ awosu mu nsakrae wɔ wo `WAS` awosu mu nkwaadɔm mu a, wo mogya nkwammoaa rentumi nkɔbata nkwammoaa ne ntini afoforo ho yiye. Eyi remma nipadua no mu tumi a ɛko tia nyarewa no rentumi nyɛ n’adwuma yiye. Ɛno na ɛde Wiskott-Aldrich Syndrome ho sɛnkyerɛnne ahorow ba.

Wɔ awosu mu neutropenia mu no, awosu mu nsakrae ma nkwammoaa ahorow abien, neutrophils ne monocytes, nkɔ, na ɛmma nipadua no mu tumi a ɛko tia nyarewa no nnyae saa nkwammoaa yi nkɔko tia nyarewa.

So eyi yɛ biribi a efi awo ntoatoaso ahorow mu?

Yiw, eyi yɛ tebea a wobetumi anya afi awo mu. Ɛyɛ agyapadeɛ wɔ ``X-linked recessive`` nhwɛsoɔ mu. Eyi kyerɛ sɛ ɛsɛ sɛ abofra no nya awosu mu nsakrae no fi awofo baanu no nyinaa hɔ.

Yenya yɛn nna mu nkwaadɔm fi yɛn awofo hɔ. Mmarima wɔ `X` chromosome biako ne `Y` chromosome biako. Mmea wɔ `X` chromosomes abien. Saa yare yi ka mmarimaa kɛse, efisɛ saa awosu mu nsakrae yi ka wɔn `X` chromosome biako pɛ no dwumadi.

Ɛwom sɛ yareɛ no wɔ abusua mu tebea deɛ, nanso ayarefoɔ nyinaa mu bɛboro 30% nya bi ``de novo'' , a ɛkyerɛ sɛ ɛnam awosu mu nsakraeɛ foforɔ a ɛba wɔ nyinsɛn mu.

Wobɛyɛ dɛn ahu eyi?

Mpɛn pii no oduruyɛfo hu Wiskott-Aldrich Syndrome wɔ nkokoaa anaa mmofraase . Wɔyɛ abofra no mu nhwehwɛmu na wɔyɛ sɔhwɛ ahorow a ɛho hia. Tebea yi ho sɛnkyerɛnne a edi kan betumi ayɛ mogya a ɛwɔ nsu mu, mogya a ɛtɔ soronko, anaa akuru. Oduruyɛfo betumi ayɛ nhwehwɛmu ahorow a edidi so yi de akyerɛ sɛ tebea no wɔ hɔ:

• Mogya dodow a wɔde ma a edi mũ (CBC) .
• Awosu mu mogya mu nhwehwɛmu
• Mogya a wɔde srasra nipadua no akyi

Sɛ wɔanhu eyi wɔ nkokoaabere mu a, sɛnkyerɛnne ahorow no da adi kɛse wɔ mmofraase.

Sɛ wo ba no da sɛnkyerɛnne ahorow adi sɛ nipadua no mu tumi a ɛko tia nyarewa no ayɛ mmerɛw, te sɛ ɔyare mmoawa a ɔtaa nya a, ebia ɛho behia sɛ wɔyɛ nhwehwɛmu foforo wɔ ne mmofraase. Eyi te saa efisɛ ebia abofra no nipadua rentumi nko ntia mmoawa ne mmoawa yiye, na ebia ɛrenyɛ adwuma yiye wɔ nnuru bi a wɔde bɔ nkurɔfo ho ban ho.

Ebia oduruyɛfo bi bɛyɛ mogya mu nhwehwɛmu de ahwɛ sɛ ebia wo ba no nipadua reyɛ nnuru a ɛko tia nyarewa bere a wɔabɔ no aduru awie no. Saa nnuru a ɛko tia nyarewa yi ne nea ɛma nipadua no tumi ko tia nyarewa de bɔ ne ho ban fi nyarewa a emu yɛ den ho. Bio nso, wɔbɛyɛ mogya mu nhwehwɛmu foforo de ahwɛ wo ba no mogya mu nkwammoaa fitaa, titiriw T-cell ne immunoglobulins (a ɛno nso boa ma wɔyɛ antibodies).

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Wobetumi afa akwan a edidi so yi so asa Wiskott-Aldrich Syndrome:

• Sa ɔyare mmoawaNnuru a ekum ɔyare mmoawa anaa nnuru a ekum ɔyare mmoawa.
• Wɔde nnuru a ɛko tia nyarewa (immunoglobulin) a wɔde hyɛ nipadua mu ma de san nya nipadua mu nkwammoaa a ɛko tia nyarewa a ayɛ mmerɛw no.
• Mogya ne mogya mu nkwammoaa a wɔde ma wɔ mogyatɔw mu nsɛnnennen ho.
• Wobetumi de nnuru a wɔde gu nipadua no so ne nnuru a wɔtɔn (OTC) a ɛma nsu yɛ hyew asa eczema .

Sɛ wo ba nya yare anaa ɔyare mmoawa bi a, ebetumi ayɛ aniberesɛm na ɛde ne nkwa mpo ato asiane mu . Nea ɛbɛyɛ na woabɔ wo ba no nkwa ho ban no, wubetumi nso asɔ ayaresa ahorow yi ahwɛ:

• Stem cell transplant : Ebia eyi ne ano aduru a eye sen biara a ɛwɔ hɔ mprempren.
• Gene therapy (eyi da so ara wɔ nhwehwɛmu fã).

Wo ba no duruyɛfo ne wo besusuw ayaresa akwan yi ho na wayɛ ayaresa ho nhyehyɛe na ama wo ba no anya nea eye sen biara na ama n’asetra atu mpɔn.

Sɛ me ba no wɔ saa tebea yi a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Sɛ wo ba no wɔ Wiskott-Aldrich Syndrome a, wo duruyɛfo bɛyɛ ayaresa nhyehyɛe bi a ɛbɛboa ma wɔasiw nsɛnnennen a ɛde ne nkwa to asiane mu a ebetumi aba esiane sɛ wɔn nipadua mu tumi a ɛko tia nyarewa no ntumi nyɛ adwuma yiye nti no ano. Sɛ wohu sɛ wowɔ yare no wie a, wobetumi de wo akɔma wɔakɔma wo awosu ho afotu . Eyi betumi aboa wo ne w’abusua ma moahu tebea no ne ayaresa a wobetumi apaw ho nsɛm pii.

Mmofra nyarewa a ɛtaa ba te sɛ akisikuru mpo betumi de akwahosan ho nsɛnnennen a emu yɛ den aba wo ba no so. Esiane sɛ ne nipadua mu ahoɔden a ɛko tia nyarewa no mu nyɛ den te sɛ mmofra afoforo a wɔne no bɔ tipɛn nti, ebia ebehia sɛ ɔkɔ oduruyɛfo nkyɛn ntɛm ara. Nyarewa ne ɔyare mmoawa a wobɛsa ntɛm no betumi aboa wo ma woanya nea eye.

Ebia wo duruyɛfo bɛka akyerɛ wo sɛ mma wo ba no mmoawa a wɔte ase (te sɛ atiridiinini aduru) efisɛ mmoawa a ɛte ase betumi ama wo ba no ayare. Sɛ wo ba nya nnuru bi mpo a, ebia ɛrenyɛ adwuma yiye. Sɛ mmoawa bi yare wo ba a, mpɛn pii no, nnuru a ekum ɔyare mmoawa a wɔde sa yare ntɛm no yɛ adwuma yiye. Nanso nyarewa a ɛtaa ba mpo betumi de nsɛnnennen aba.

Ebia ɛho behia sɛ wɔyɛ wo ba no kokoram ho nhwehwɛmu daa wɔ n’asetra nyinaa mu efisɛ asiane kɛse wom sɛ obenya kokoram ahorow bi, titiriw mogya mu kokoram anaa lymphoma .

So aduru bi wɔ hɔ a edi mũ ma eyi?

Yiw, ntini mu nkwammoaa a wɔde si ananmu (a wɔsan frɛ no nnompe mu ntini a wɔde si ananmu) betumi asa Wiskott-Aldrich Syndrome.Nneɛma a wɔde si nipadua foforo mu yi yi nipadua no mu ntini mu nkwammoaa a ɛyɛ mogya no na wɔde ntini mu nkwammoaa a ɛte apɔw si ananmu. Esiane sɛ Wiskott-Aldrich Syndrome ma mogya mu nkwammoaa a ɛnteɛ ba nti, ntini mu nkwammoaa a wɔde bɛma obi foforo betumi de nkwammoaa a ɛte apɔw na ɛyɛ adwuma asi saa nkwammoaa no ananmu.

So Wiskott-Aldrich Syndrome no tumi kum nnipa?

Wiskott-Aldrich Syndrome betumi akum obi . Wɔadi kan abɔ amanneɛ sɛ mmofra a wɔmfa stem cell nhyɛ wɔn ananmu no nkwa nna bɛyɛ mfe 15. Nsɛnkyerɛnne a efi ɔyare mmoawa, mogya a ɛtɔ wɔ abofra no amemene mu, ɔyare mmoawa a emu yɛ den anaa kokoram betumi de ne nkwa ato asiane mu, na owu betumi aba ntɛm.

Nanso, esiane sɛ aduruyɛ ho nyansahu anya nkɔso nti, ayaresa a wɔpaw mprempren no ama atumi ama abofra nkwa nna nyinaa atu mpɔn.

So wobetumi asiw eyi ano?

Eyi yɛ awosu mu tebea na wontumi nsiw ano . Sɛ woreyɛ nhyehyɛe sɛ wobɛwo mma na wopɛ sɛ wuhu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare bi a, wo ne wo duruyɛfo nkasa mfa awosu mu nhwehwɛmu ho .

Bere bɛn na ɛsɛ sɛ mekɔ me ba no oduruyɛfo nkyɛn?

Sɛ wo ba no yare na wɔahu sɛ ɔwɔ Wiskott-Aldrich Syndrome a, kɔ wɔn duruyɛfo nkyɛn ntɛm ara . Esiane sɛ wɔn nipadua mu tumi a ɛko tia nyarewa no ntumi nyɛ adwuma yiye nti, wobetumi anya ɔyare mmoawa mpɛn pii. Wo duruyɛfo betumi asa yare anaa ɔyare mmoawa no, anaasɛ asiw ɔhaw ahorow a ɛde wo nkwa to asiane mu ano.

Sɛ wo ba no wɔ nea edidi so yi mu biara a, kɔ wo duruyɛfo nkyɛn:

• Mogya a ɛwɔ nsu mu (Bloody diarrhea) .
• Mogya a ɛtaa tu fi hwene mu
• Mmeae akɛse a akuru wɔ hɔ
• Nsakrae a ɛba wɔn honam ani
• Nyarewa a ɛsan ba bio (e.g. akokɔsrade anaa akisikuru a emu yɛ den, ɔyare mmoawa) .

Nsɛm bɛn na ɛsɛ sɛ mibisa oduruyɛfo no?

Wubetumi abisa oduruyɛfo no nsɛm te sɛ eyinom:

• Dɛn ne me ba nkwa nna?
• Nnuru bɛn na metumi de asa me ba no akisikuru?
• So nsunsuanso bɔne bi wɔ ayaresa ahorow a wokamfo kyerɛ no ho?
• So me ba no fata sɛ wɔde stem cell bɛma obi foforo?

Nsonsonoe bɛn na ɛda Wiskott-Aldrich Syndrome ne Ataxia-Telangiectasia ntam?

Wiskott-Aldrich Syndrome ne Ataxia-Telangiectasia nyinaa yɛ awosu mu tebea horow a ɛka nipadua no mu tumi a ɛko tia nyarewa no dwumadi.. Nanso, nsakrae a ɛba ATM awosu mu abɔde mu na ɛde ataxia-telangiectasia ba. Ɛka wo kankyee ne sɛnea woyɛ nneɛma bom. Ɛma mogya ntini nso yɛ te sɛ nea ɛyɛ zig-zag wɔ wo honam ani.

Nneɛma a ɛho hia paa a ɛsɛ sɛ wokae

Sɛ wuhu sɛ wo ba no wɔ awosu mu yare bi a ɛntaa nsi a ɛbɛka no ne nkwa nna nyinaa a, ebetumi ayɛ den. Ebetumi ayɛ ahodwiriw. Nanso mma ɛnhaw wo. Wo ba no oduruyɛfo bɛka tebea no ne sɛnea wubetumi aboa wo ba no wɔ fie no ho nsɛm pii akyerɛ wo. Ebia wo ba no nipadua mu ahoɔden a ɛko tia nyarewa no ntumi nyɛ adwuma yiye, enti ebia ɔbɛyare mpɛn pii.

Ɛho hia sɛ wohwɛ wo ho bere a worehwɛ wo ba no. Awofo ne mmusua pii nya awerɛkyekye ne mmoa kɛse bere a wɔne adwenemyare ho ɔfotufo bi kasa no .

Esiane sɛ wɔanya nkɔso wɔ ayaresa a wɔde ma mprempren mu nti, seesei mmofra a wɔwɔ saa tebea yi tumi tra ase a ɛyɛ anigye na ɛyɛ anigye. Enti monyɛ den.

` Wiskott-Aldrich syndrome, awosu mu nyarewa, nipadua mu ahoɔden a ɛko tia nyarewa, eczema, mogya a ɛtɔ, ntini mu nkwammoaa a wɔde si ananmu, mmofra akwahosan