Ɛtɔ mmere bi a, sɛ awofo no, sɛ yehu sɛ akokoaa a wɔawo no foforo anim anaa ne nsateaa asi baabi foforo kakra a, ɛhaw yɛn kakra, ɛnte saa? Bere koro no ara mu no, nnuruyɛfo nso ka sɛ nkokoaa binom wɔ “tokuru ketewaa bi wɔ koma mu.” Ɛnnɛ yɛreka awosu mu tebea bi a ɛntaa nsi koraa a ɛka saa nneɛma yi pii bom na wɔabɔ ho amanneɛ wɔ mmusua kakraa bi pɛ mu wɔ wiase no ho asɛm. Wɔfrɛ eyi Char Syndrome wɔ aduruyɛ ho nyansahu mu. Nsuro, momma yɛnte eyi ho biribiara ase kɛkɛ.
Dɛn nti na eyi rekɔ so? Dɛn nti na ɛte saa?
Sɛ yɛbɛka no tiawa a, yɛn nipadua no fã biara, akwaa biara, wɔ akwankyerɛ ahorow bi wɔ yɛn nipadua mu a ɛfa sɛnea ɛsɛ sɛ enyin ho. Yɛfrɛ saa awosu mu nkwaadɔm yi . Enti, saa Cha syndrome yi fi nsakrae, anaa mutation, wɔ gene pɔtee bi a wɔfrɛ no `TFAP2B` mu. Saa awosu mu abɔde yi na ɛkyerɛ akokoaa sɛ ɔnyɛ protein a ehia na n’anim, ne nsa ne ne koma anyin yiye bere a ɔrenyin wɔ awotwaa mu no.
Akwan atitiriw abien na saa tebea yi betumi afa so aba:
1. Awosu: Abofra a ɛna anaa agya bi a ɔwɔ Cha syndrome woo no wɔ hokwan 50% sɛ obenya tebea no. Eyi kyerɛ sɛ abofra no nso betumi anya saa awosu mu abɔde no mu sintɔ no afi awo mu.
2. De novo: Ɛtɔ da bi a, sɛ obiara nni abusua no mu a ɔwɔ tebea no mpo a, nsakrae foforo a ɛba `TFAP2B` awosu mu abɔde mu no betumi aba ara kwa bere a wɔanyinsɛn akokoaa wɔ awotwaa mu no. Ɛno mpo no, abofra no betumi anya Cha syndrome.
Dɛn ne eyi ho sɛnkyerɛnne atitiriw?
Cha syndrome ka nipadua no afã abiɛsa titiriw: anim, nsa, ne koma. Momma yɛnhwɛ eyinom wɔ ɔkwan soronko so.
| Nipadua fã a ɛka no | Nsɛnkyerɛnne a wotumi hu |
|---|---|
| Anim Nneɛma a Ɛwɔ Hɔ |
|
| Nsa a Wɔde Yɛ Nneɛma | Nsɛnkyerɛnne a wɔtaa hu wɔ nnipa pii mu ne mfinimfini nsateaa a ɛyɛ tiaa koraa anaasɛ enni hɔ . Ɛwom sɛ wɔabɔ nsakrae afoforo a ɛwɔ akwaa anan mu ho amanneɛ de, nanso ɛntaa nsi koraa. |
| Koma Tebea | Nkokoaa pii wɔ komayare bi a wɔfrɛ no Patent Ductus Arteriosus (PDA) . Sɛ yɛbɛka no tiawa a, sɛ akokoaa wɔ awotwaa mu a, abusuabɔ ketewaa bi da mogya ntini atitiriw abien a ɛde mogya kɔ koma no mu no ntam. Eyi ankasa bɛto mu wɔ nna kakraa bi akyi wɔ awo akyi. Nanso wɔ eyi mu no, tokuru no da so ara bue. Yɛfrɛ no PDA. |
Sɛ wɔansa nkokoaa binom a wɔwɔ PDA no yare a, wobetumi anya ɔhaw ahorow te sɛ ahome a wɔhome ntɛmntɛm, ɛyɛ den sɛ wobenya aduan, ne wɔn mu duru a ɛnyɛ papa. Wɔ tebea horow a emu yɛ den mu no, eyi betumi akɔ so mpo akodu komayare.
Ɔkwan bɛn so na wohu tebea yi?
Sɛ wo duruyɛfo susuw sɛ eyi bere a ɔreyɛ wo ba no mu nhwehwɛmu a, obetumi de wo akɔ awosu ho ɔbenfo anaa awosu ho ɔfotufo nkyɛn.
Ɛhɔ no, awosu mu nhwehwɛmu betumi asi so dua koraa sɛ ebia sintɔ bi wɔ `TFAP2B` awosu mu abɔde a ɛde tebea yi ba no mu anaa. Eyi nti, wɔtaa fa mogya, honam ani anaa ti nhwi ntini.
Bere a oduruyɛfo no ahu yare no akyi no, obetumi akamfo nhwehwɛmu ahorow pii akyerɛ sɛ wɔnyɛ abofra no akwahosan bio:
- Nsõ mu nhwehwɛmu: Hwɛ sɛ ebia ɔhaw biara wɔ sẽ a ɛrenyin ho wɔ mfe 3 akyi.
- Aniwa mu nhwehwɛmu: Hwɛ sɛ ebia strabismus anaa aniwa mu haw bi wɔ hɔ anaa.
- Aso mu sɔhwɛ: Hwɛ sɛ obi aso yɛ den anaa.
- Koma mu nhwehwɛmu: Hwɛ sɛ PDA anaa komayare afoforo wɔ hɔ anaa.
- Nipadua mu nhwehwɛmu: Hwɛ sɛ ɔhaw afoforo wɔ akwaa no ho anaa.
- Nna ho haw ne ti nsusuwii ne ne kɛse ho nhwehwɛmu .
Sɛ wo ba no wɔ saa tebea yi a, ɛho hia paa sɛ wo ne wo duruyɛfo kasa fa mpɛn dodow a ɛsɛ sɛ wɔyɛ nhwehwɛmu ahorow yi ho.
Dɛn ne ayaresa ahorow a ɛwɔ hɔ?
Nea edi kan koraa no, mmofra yi nhia ayaresa titiriw biara wɔ nsakrae a ɛba wɔn anim anaa wɔn nsateaa mu no ho. Nanso, sɛ abofra no nyin kakra a, hokwan wɔ hɔ sɛ mmofra afoforo bɛserew wɔn na wɔayɛ wɔn basabasa wɔ sukuu anaa ɔmanfo mu. Enti, sɛ awofo no, ɛho hia paa sɛ yɛma yɛn ani si eyi so yiye na yɛboa ma abofra no adwene mu ahoɔden nya nkɔso.
Nanso, PDA a ɛwɔ koma no mu no hwehwɛ sɛ wɔsa yare. Akwan atitiriw pii wɔ hɔ a nnuruyɛfo fa so yɛ saa.
| Ɔkwan a wɔfa so sa yare | Nkyerɛkyerɛmu a ɛnyɛ den |
|---|---|
| Nnuru a wɔde di dwuma | Wɔde NSAIDs di dwuma de to PDA ntokuru mu wɔ nkokoaa a wɔawo wɔn ntɛm mu. Nanso, saa kwan yi ntumi nyɛ adwuma wɔ nkokoaa a wɔawo wɔn bere nyinaa, mmofra a wɔanyinyin, anaa mpanyimfo mu. |
| Sɛɛgyiri | Oduruyɛfo no twa mpampam no ntam ketewaa bi ma ɛkɔ koma no mu na ɔde nhama anaa nhama to tokuru a abue no mu. |
| Catheter Ɔkwan a Wɔfa so Yɛ | Eyi yɛ adeyɛ a ɛyɛ mmerɛw sen oprehyɛn. Wɔde catheter (afiri a ɛyɛ tratraa a ɛyɛ mmerɛw) fa mogya ntini bi a ɛwɔ asen no mu kɔ koma no mu, na wɔde plug anaa coil ketewaa bi fa mu de to tokuru no mu. |
| Twɛn a Wɔwɛn | Ɛtɔ da bi a, sɛ PDA tokuru no sua koraa na ɛnyɛ akwahosan ho haw foforo biara mma a, ebia oduruyɛfo no besi gyinae sɛ ɔnyɛ hwee gye sɛ ɔbɛhwɛ tebea no so denam nhwehwɛmu a ɔbɛyɛ so. |
Nkrasɛm a Wɔde Kɔ Fie
- Cha syndrome yɛ awosu mu tebea a ɛntaa nsi koraa. Nsuro sɛ wobɛte ho asɛm.
- Eyi fa nsakrae a ɛba sɛnea anim, nsa (titiriw nsateaa ketewa), ne koma (PDA tebea) te ho titiriw.
- Sɛ wo duruyɛfo no adwenem yɛ no naa bi a, awosu mu nhwehwɛmu betumi ahu eyi pɛpɛɛpɛ.
- Bere a ebia nsakrae a ɛba anim ne nsa mu no renhia ayaresa no, PDA tebea a ɛwɔ koma no mu taa yɛ saa.
- Ɛho hia paa sɛ wobɛyɛ wo ba no aduruyɛ mu nhwehwɛmu a ɛho hia nyinaa wɔ bere ano na woadi oduruyɛfo no akwankyerɛ akyi.
- Sɛ́ awofo no, ɛyɛ yɛn asɛyɛde sɛ yɛbɛma yɛn mma anya adwene mu akwahosan pa ne nipadua mu akwahosan nso.
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