So wo ba no sõ kakra sen nkokoaa afoforo bere a wɔawo no no? Sɛ ɛba saa a, ebia w'ani begye, nanso ebia w'ani begye kakra nso, ebia wo ho yeraw wo mpo, na wususuw sɛ, "Dɛn nti na me ba no sõ saa?" Mpɛn pii no, eyi te saa esiane sɛ wɔwoo wo a na wo ne akokoaa tenten a ɔwɔ apɔwmuden nti. Nanso, ɛntaa mma koraa sɛ awosu mu tebea bi a ɛntaa nsi na ebetumi de eyi aba. Ɛnnɛ, yɛreka tebea a ɛte saa biako ho asɛm, Beckwith-Wiedemann Syndrome (BWS) . Nsuro sɛ wobɛte saa din yi. Sɛ wunim eyi a, wo ne wo duruyɛfo betumi abom ahwɛ wo ba no yiye.
Sɛ yɛbɛka no tiawa a, dɛn ne Beckwith-Wiedemann Syndrome (BWS)?
Eyi yɛ awosu mu tebea a ɛntaa nsi. Nea ɛba ne sɛ awosu mu nkwaadɔm bi a ɛka akokoaa no nipadua nyin ho no yɛ adwuma boro so. Ne saa nti, akokoaa no nipadua no afã horow bi anaa ne nipadua nyinaa nyin ntɛmntɛm sen sɛnea ɛte daa.
Wɔsan frɛ eyi sɛ "Beckwith-Wiedemann spektrum." "Spectrum" kyerɛ sɛ te sɛ spectrum. Eyi kyerɛ sɛ tebea no nka akokoaa biara wɔ ɔkwan koro so. Ebia nkokoaa binom benya sɛnkyerɛnne a ɛbata eyi ho no mu biako anaa abien pɛ. Ebia nkokoaa afoforo benya yare no ho sɛnkyerɛnne pii. Enti, nkokoaa baanu biara nni hɔ a wɔwɔ saa tebea yi a wɔyɛ pɛ da.
Nea ɛho hia ne sɛ bere a wonni saa tebea yi ano aduru a ɛbɛtra hɔ daa no, ayaresa pa ara wɔ hɔ a wɔde siw sɛnkyerɛnne ahorow so na wɔasiw nsɛnnennen ano. Sɛ wonya ayaresa a ɛfata a, mmofra yi mu dodow no ara tra ase sɛnea ɛsɛ na apɔwmuden wom.
Dɛn ne tebea yi su atitiriw?
Sɛnea yɛadi kan aka no, ɛnyɛ akokoaa biara na obenya saa sɛnkyerɛnne ahorow yi nyinaa. Nanso kakraa bi wɔ hɔ a ɛtaa ba. Wo duruyɛfo no besusuw sɛ ɛyɛ BWS sɛ ohu saa sɛnkyerɛnne ahorow yi mu biako anaa nea ɛboro saa a.
| Su a ɛwɔ hɔ | Nkyerɛkyerɛmu a ɛnyɛ den |
|---|---|
| Ɛsõ sen sɛnea ɛte daa (Macrosomia) . | Wɔ awo mu no, wɔn mu duru ne wɔn tenten boro akokoaa a wɔkyekyem pɛpɛɛpɛ so koraa. Wɔware sen mmofra afoforo a wɔn mfe yɛ pɛ. Nanso, mpɛn pii no, onyin ntɛmntɛm yi brɛ ase bere a wɔadi mfe 8 no, na wɔsan kɔ wɔn tenten a ɛfata mu wɔ mpanyin afe so. |
| Tɛkrɛma kɛse (Macroglossia) . | Tɛkrɛma no sõ sen sɛnea ɛte daa. Eyi betumi ama ayɛ den ama akokoaa no sɛ ɔbɛnom nufu na akyiri yi ɔbɛkasa. Ɛtɔ mmere bi a, ahomegye mu den nso betumi aba. |
| Yafunu mu ɔfasu ho haw (Omphalocele / Umbilical Hernia) . | Omphalocele: Tebea a akokoaa no dwensɔtwaa te sɛ dwensɔtwaa no pue fa awotwaa no mu na wɔde aduru a ɛyɛ tratraa kata so sen sɛ ɛbɛkɔ yafunu no mu. Umbilical Hernia: Yafunu mu ntini a ɛpue fa awotwaa no mu. Wobetumi de oprehyɛn asiesie eyinom. |
| Nipadua no fã biako a ɛtrɛw (Hemihyperplasia) . | Nipadua no fã biako (e.g., nifa so) nyin kɛse sen ɔfã foforo (benkum so). Eyi betumi ayɛ ɔfã no nyinaa anaasɛ nsa anaa nan biako pɛ. |
| Asikre a ɛwɔ mogya mu a ɛba fam (Hypoglycemia) wɔ abofra a wɔawo no foforo mu | Wɔ awo akyi nna anaa adapɛn a edi kan no, asikre dodow a ɛwɔ ne mogya mu betumi akɔ fam wɔ ɔkwan a ɛyɛ hu so. Eyi a wobedi ho dwuma yiye no ho hia na ama amemene no nyin. |
| Nneɛma afoforo a ɛwom | Wobetumi ahu mmerɛbo a ayɛ kɛse (hepatomegaly), asaabo a ɛnyɛ ne kwan so, ne nsensanee nketenkete anaa nsensanee wɔ aso mu. |
So ɛsɛ sɛ yesuro kokoram ho asiane ankasa?
Eyi ne asɛmti a ɛbɔ awofo hu kɛse bere a ɛfa BWS ho no. Yiw, mmofra a wɔwɔ BWS no wɔ asiane kɛse mu sɛ wobenya mmofra kokoram ahorow bi (titiriw Wilms akisikuru, asaabo mu kokoram, ne hepatoblastoma, mmerɛbo mu kokoram) sen mmofra afoforo.
Nanso, ɛsɛ sɛ yɛte nneɛma kakraa bi ase pefee wɔ ha.
1. Ɛwom sɛ asiane no sõ de, nanso ne nyinaa mu no, ɛda so ara sua. Saa asiane yi ka mmofra a wɔwɔ BWS 100 biara mu bɛyɛ 7-8.
2. Saa asiane yi dɔɔso sen biara wɔ mfe 8 a edi kan wɔ nkwa nna mu. Ɛno akyi no, asiane no so tew kɛse.
3. Adeɛ a ɛho hia paa - aduruyɛ mu nhwehwɛmu a wɔyɛ no daa!Esiane sɛ nnuruyɛfo nim asiane yi nti, wɔyɛ nkokoaa a wɔwɔ BWS nyinaa mu nhwehwɛmu wɔ nhyehyɛe a wɔyɛ no daa mu. Mpɛn pii no, wɔyɛ yafunu mu ultrasound scan ne mogya mu nhwehwɛmu (AFP nhwehwɛmu) asram abiɛsa biara.
Mfaso titiriw a ɛwɔ nhwehwɛmu a wɔyɛ no daa yi so ne sɛ, sɛ kokoram nya ampa a, wobetumi ahu no ntɛm ara. Afei , hokwan a ɛwɔ hɔ sɛ wɔde ayaresa bɛsa no koraa no dɔɔso yiye. Enti, nea ɛho hia sen biara ne sɛ ɛnsɛ sɛ wusuro eyi a ɛho nhia, na mmom sɛ wobɛma wɔayɛ nhwehwɛmu no bere ano sɛnea oduruyɛfo no akwankyerɛ kyerɛ.
Dɛn nti na eyi rekɔ so? Dɛn ne nea enti a ɛte saa?
Nea enti a ɛte saa no yɛ nea emu yɛ den kakra. Nkwammoaa biara a ɛwɔ yɛn nipadua mu no wɔ biribi a wɔfrɛ no chromosomes. Eyinom te sɛ akwankyerɛ nhoma ahorow a wɔde kyekye yɛn nipadua no. Wɔ BWS mu no, nsakrae ba awosu mu nkwaadɔm pii a ɛwɔ chromosome 11 a ɛhwɛ onyin so no dwumadi mu.
Sɛ yɛbɛka no tiawa a, awosu mu nkwaadɔm a "ɛhwɛ" onyin so no yɛ komm kakra, na awosu mu nkwaadɔm a "ɛma" onyin no yɛ adwuma kɛse. Wɔfrɛ eyi genomic imprinting .
- Eyi taa yɛ nea ɛbae ara kwa: mmofra a wɔwɔ BWS no mu bɛyɛ 85% nni abusua abakɔsɛm biara a ɛfa yare no ho. Eyi kyerɛ sɛ saa awosu mu nsakrae yi ba ara kwa, kwa.
- Wɔntaa nnya fi awo mu: Ɔha biara mu kakraa bi, bɛyɛ 10-15%, betumi anya awosu mu nsakrae a ɛfa tebea yi ho afi wɔn awofo no mu biako hɔ.
- Abusuabɔ a ɛda ART ntam: Nhwehwɛmu ada no adi sɛ mmofra a wɔnam awo ho mfiridwuma a wɔboa (ART), te sɛ IVF (In Vitro Fertilization) , so nyinsɛn wɔn no wɔ asiane a ɛkɔ soro kakra sɛ wobenya tebea horow te sɛ BWS. Nanso, nhwehwɛmu da so ara kɔ so wɔ abusuabɔ yi ho.
Ɔkwan bɛn so na nnuruyɛfo hu eyi? (Nyare a Wɔahu) .
Wobetumi ahu BWS ansa na wɔawo akokoaa no anaasɛ wɔawo no akyi.
Nhwehwɛmu a Wɔyɛ Ansa na Wɔawo
Bere a wɔreyɛ ultrasound scan bere a wɔyem no, oduruyɛfo no betumi asusuw sɛ ɛyɛ BWS sɛ ohu nea edidi so yi a:
- Akokoaa no sõ sen sɛnea ɔte daa.
- Nsu a ɛwɔ akokoaa no ho a ɛkɔ soro (polyhydramnios) .
- Awotwaa no a ɛtrɛw
- Asaabo a ɛyɛ kɛse (nephromegaly) .
- Yafunu mu ɔfasu ho haw (omphalocele) .
Sɛ wuhu saa sɛnkyerɛnne ahorow yi a, wo duruyɛfo betumi asi tebea no so dua denam awosu mu nhwehwɛmu titiriw bi te sɛ amniocentesis (amniotic fluid testing) a ɔbɛyɛ so.
Bere a wɔawo akokoaa no akyi (Postnatal Diagnosis) .
Sɛ wɔwo akokoaa no wie a, oduruyɛfo no bɛhwehwɛ akokoaa no mu na wahwehwɛ nipadua mu nsɛnkyerɛnne a yɛadi kan aka ho asɛm (tɛkrɛma kɛse, nipadua no fã biako a ɛtrɛw, ne nea ɛkeka ho). Sɛ adwenem naayɛ bi wɔ hɔ a, wobetumi agye akokoaa no mogya na wɔayɛ awosu mu nhwehwɛmu titiriw bi de ahu sɛ ebia akokoaa no wɔ BWS ne nea ɛde ba.
Dɛn ne ayaresa ahorow no? (Ayaresa)
Esiane sɛ BWS tumi ka nipadua no afã horow pii nti, ɛnyɛ oduruyɛfo biako pɛ na ɔsa akokoaa yare. Animdefo kuw bi a mmofra oduruyɛfo, oprehyɛn ho animdefo, ne kasa ho ayaresa ho animdefo ka ho na wɔhwɛ akokoaa no.
Wogyina akokoaa no yare no ho sɛnkyerɛnne so na ɛkyerɛ ayaresa.
| Ɔhaw | Ayaresa ne sɛnea wɔhwɛ so |
|---|---|
| Asikre a ɛwɔ mogya mu a ɛba fam (Hypoglycemia) . | Glucose (asikre nkyene) a wɔde fa ntini bi mu, nufusu a wɔtaa ma, na ɛtɔ mmere bi a nnuru a wɔde ma. Wɔhwɛ eyi so yiye wɔ ayaresabea. |
| Tɛkrɛma kɛse (Macroglossia) . | Nufusu titiriw a wɔde di dwuma de ma nufu, kasa mu ayaresa, CPAP afiri a wɔde di dwuma sɛ ɔhome mu haw ba bere a wɔada a. Ebia ɛho behia sɛ wɔyɛ mmofra binom oprehyɛn a wɔde tew tɛkrɛma so. |
| Yafunu mu ɔfasu ho haw (Omphalocele) . | Wɔawo akokoaa no akyi pɛɛ anaa ɛno akyi bere tiaa bi no, wɔyɛ oprehyɛn de akwaa a epuei no san kɔ yafunu no mu na wɔto yafunu no fasu mu. |
| Nipadua no fã biako a ɛtrɛw (Hemihyperplasia) . | Sɛ nsonsonoe wɔ nan no tenten mu a, wobetumi de mpaboa soronko (orthotics) asiesie. Oduruyɛfo no hwɛ sɛnea onyin yi so bere nyinaa. |
| Kokoram ho asiane | Edu bɛyɛ mfe 8 no, wɔyɛ yafunu mu ultrasound scan ne mogya mu nhwehwɛmu (AFP) asram 3 biara. |
Daakye bɛn na akokoaa no benya? (Nkɔmhyɛ) .
Ebia eyi ne asɛmmisa kɛse a ɛwɔ w’adwenem. Ɛwom sɛ BWS yɛ tebea a emu yɛ den de, nanso mmofra a wɔwɔ saa tebea yi mu dodow no ara tra ase yiye, wɔwɔ anigye, na wɔtra ase sɛnea ɛsɛ.
Nneɛma pii na ɛkyerɛ akokoaa no daakye:
- Nsɛnkyerɛnne bɛn na akokoaa no wɔ na emu yɛ den dɛn?
- Hwɛ sɛnea wohuu yare no ntɛmntɛm.
- Sɛ́ ebia wɔyɛ ayaresa ne kokoram ho nhwehwɛmu wɔ bere ano anaa.
Sɛ wohu yare no ntɛm, wɔma no yare a ɛfata, na wɔma wɔtra oduruyɛfo hwɛ ase bere nyinaa a, akokoaa no betumi ahwɛ kwan sɛ nea ebefi mu aba pa ara.
Sɛ wuhu sɛ wo ba no wɔ BWS a, ebia wo ho bɛdwiriw wo, woadi awerɛhow, na woasuro. Ɛyɛ ade a ɛyɛ daa. Ebia wowɔ nsɛmmisa pii. Wo ne wo duruyɛfo nka eyinom nyinaa ho asɛm. Obetumi ama woanya wo ba no tebea pɔtee no ho ntease a eye sen biara. Kae sɛ ɛnyɛ wo nko ara. Nnuruyɛfo kuw kɛse bi wɔ hɔ a wobetumi aboa wo. Mobɛbom ayɛ tebea a eye sen biara ama mo ba no anyin anigye ne apɔwmuden.
Nkrasɛm a Wɔde Kɔ Fie
- Beckwith-Wiedemann Syndrome (BWS) yɛ awosu mu yare a ɛntaa nsi a ɛka abofra nyin. Ɛnka mmofra nyinaa wɔ ɔkwan koro so.
- Nneɛma atitiriw a ɛwom ne sɛ ɔsõ sen sɛnea ɛte daa, tɛkrɛma kɛse, yafunu no fasu ho haw, ne nipadua no fã biako a ɛtrɛw.
- Mmofra a wɔwɔ BWS no wɔ asiane mu kakra sɛ wobenya kokoram ahorow bi wɔ wɔn mmofraase, nanso nhwehwɛmu a wɔyɛ no daa no betumi ahu wɔn ntɛm na wɔasa wɔn yare koraa.
- Ɛwom sɛ wonni saa tebea yi ano aduru a ɛtra hɔ daa de, nanso ayaresa ahorow a etu mpɔn yiye wɔ hɔ a wɔde sa ɔhaw ahorow a ɛsɔre no.
- Sɛ wɔde ayaresa ne hwɛ a ɛfata di mmofra a wɔwɔ BWS no yare a, wɔtra ase sɛnea ɛsɛ, wɔwɔ apɔwmuden, na wɔyɛ pɛ. Ɛho hia sɛ wo ne wo duruyɛfo yɛ adwuma yiye.
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