Ne nyinaa fa Choroideremia ho: yare a ɛntaa nsi a ɛma obi ntumi nhu ade nkakrankakra

So wote nka nso sɛ w’anisoadehu reyɛ kɛse anadwo? Anaasɛ so w’anisoadehu a ɛwɔ akyirikyiri, kyerɛ sɛ, w’anisoadehu a ɛkɔ nkyɛnkyɛn no, reyɛ kɛse nkakrankakra? Ɛtɔ da bi a yɛmfa yɛn adwene nsi saa nneɛma yi so kɛse, nanso ebetumi ayɛ tebea bi a emu yɛ den a ɛwɔ ase ho sɛnkyerɛnne. Ɛnnɛ yɛrebɛka yareɛ bi a ɛntaa nsi, nanso ɛho hia paa sɛ yɛbɛhunu, a ɛtumi hwere aniwa nkakrankakra na ɛde anifuraeɛ mpo aba ho asɛm. Wɔfrɛ eyi sɛ choroideremia.

Dɛn ne saa choroideremia yi?

Sɛ yɛbɛka no tiawa a, Choroideremia yɛ aniwa mu yare a ɛntaa nsi, a wonya fi awosu mu a ɛnam awosu mu nkwaadɔm so na ɛkɔ. Ɛma aniwa abien no nyinaa aniwa no sɛe nkakrankakra, na awiei koraa no, ɛma anifurae. Saa yare yi taa ka mmarima denneennen.

Ebia woate aniwa mu yare foforo a wɔfrɛ no `(Retinitis Pigmentosa) ho asɛm.` Ɛsan nso ma retina no yɛ mmerɛw nkakrankakra. Nea ɛyɛ nwonwa no, nyarewa abien no nyinaa, `(Choroideremia)` ne `(Retinitis Pigmentosa) ho sɛnkyerɛnne ne nhwehwɛmu bi a efii mu bae no betumi ayɛ pɛ. Enti, ɔkwan pa a wobɛfa so ahu nyarewa abien yi mu nea wowɔ no pɛpɛɛpɛ ne sɛ wobɛyɛ `(genetic test).`

Dɛn na ɛkɔ so wɔ aniwa no mu? Ɔkwan bɛn so na eyi ka anisoadehu?

Yɛn ani te sɛ mfoninitwa mfiri a ɛyɛ nwonwa. Wɔ aniwa no mu no, ɔfã bi wɔ hɔ a wɔfrɛ no retina . Ɛha na nkwammoaa titiriw bi a wɔfrɛ no photoreceptor cells a etumi hu hann wɔ. Saa nkwammoaa yi fa hann a ɛkɔ aniwa no mu no na ɛdan no anyinam ahoɔden nsɛnkyerɛnne. Afei wɔde saa nsɛnkyerɛnne yi fa aniwa ntini no so kɔ amemene no mu . Amemene no de saa nsɛnkyerɛnne yi yɛ mfonini ahorow a yehu no.

Afei, saa retina yi akyi, wɔ aniwa no akyi kataso fitaa a ɛbɔ ho ban (sclera) ne retina no ntam no, ade bi wɔ hɔ a wɔfrɛ no choroid . Saa choroid yi ne baabi a retina no nya n’aduannuru, kyerɛ sɛ, ɛwɔ mogya ntini a ɛma no mogya. Fa no sɛ ɛte sɛ nea wode nsu ne aduannuru bɛma afifide bi.

Wɔ choroideremia mu no, mogya ntini a ɛwɔ choroid no mu no sɛe. Afei, retina no nnya mogya a ɛdɔɔso, enti ɛno nso fi ase sɛe. Eyi ka yɛn anisoadehu a ɛwɔ akyi no titiriw .

Choroideremia abu so dɛn?

Eyi yɛ yare a ɛntaa nsi koraa. Sɛ yɛbɛka no tiawa a, wobu akontaa sɛ nnipa 100,000 biara mu biako anaa nnipa 50,000 biara mu biako pɛ na onya saa yare yi . Wei kyerɛ sɛ, wɔ yɛn man yi mu mpo no, ebia nnipa kakraa bi pɛ na wɔwɔ saa yareɛ yi.

Dɛn ne yare yi ho sɛnkyerɛnne? Hwɛ sɛ wo nso wowɔ eyinom anaa.

Choroideremia ho sɛnkyerɛnne no nna adi mpofirim. Wonyin nkakrankakra. Nsɛnkyerɛnne atitiriw no bi ni:

• Anadwo anifurae (anadwo anifurae) yɛ sɛnkyerɛnne a edi kan no mu biako. Ɛtɔ mmere bi a, saa sɛnkyerɛnne yi betumi ada adi wɔ mmofra a wonnii mfe 10. Fa no sɛ, wɔ baabi a kanea kakraa bi na ɛwɔ hɔ a afoforo tumi hu ade yiye mpo no, saa nkurɔfo yi ntumi nhu ade yiye.
• Anisoadehu a ɛyɛ mmerɛw wɔ akyi. Eyi kyerɛ sɛ, sɛ wohwɛ w’anim tẽẽ a, wuntumi nhu nneɛma wɔ nkyɛnkyɛn. Ebetumi ayɛ te sɛ nea worehwɛ ɔkwan bi a wɔfa so fa mu.
• Aniwa a ɛyɛ mmerɛw a ɛso tew. Tumi a obi tumi hu nneɛma yiye na ɔyɛ no so tew kɛse. Ebia ɛbɛyɛ den sɛ wobɛkenkan nkyerɛwde na woahu nsonsonoe a ɛda nneɛma a ɛwɔ akyirikyiri mu.
• Kɔla ahorow a wontumi nhu yiye. Ebia ɔkwan a kɔla ahorow fa so da adi no bɛsakra. Ebia ɛbɛyɛ den mpo sɛ wobehu kɔla ahorow bi.
• Nkakrankakra, ɔfã a wohu ade no yera koraa, na ɛde anifurae ba. Mfiase no, ɔfã a wohu ade no so tew, bere kɔ so no, mfinimfini anisoadehu no nkutoo na ɛka, na awiei koraa no, anisoadehu a edi mũ betumi ayera.

Nea ɛho hia: Sɛ wowɔ saa sɛnkyerɛnne ahorow yi mu biako anaa nea ɛboro saa a, nsusuw sɛ ɛyɛ choroideremia. Nanso, ɛho hia paa sɛ wobɛkɔ aniwa ho oduruyɛfo nkyɛn ntɛm ara akɔyɛ nhwehwɛmu.

Dɛn nti na Choroideremia ba? So ɛyɛ awosu mu?

Yiw, sɛnea yɛadi kan aka no, Choroideremia yɛ awosu mu yare. Sɛ yɛbɛka no pɛpɛɛpɛ a, ɛyɛ awosu mu yare a ɛne X wɔ abusuabɔ.

Yɛn nyinaa wɔ nneɛma a wɔfrɛ no chromosomes wɔ yɛn nkwammoaa mu. Saa chromosomes yi kura yɛn awosu mu nkwaadɔm. Mmea wɔ X chromosome abien (XX). Mmarima wɔ X chromosome biako ne Y chromosome biako (XY).

Awosu mu abɔde a ɛtɔ sin a ɛde choroideremia ba no wɔ X chromosome no so.

Afei, sɛ ɔbea bi wɔ X chromosome biako a ɛwɔ saa awosu mu nkwaadɔm a asɛe yi mpo a, sɛ X chromosome foforo no wɔ apɔwmuden a, ebia ɛrennya nkɛntɛnso kɛse. Enti, mmea a wɔwɔ saa awosu mu abɔde a ɛtɔ sin yi (`carriers`) no ntaa nhu amane kɛse wɔ choroideremia ho te sɛ mmarima. Nanso, wobetumi anya yare no ho sɛnkyerɛnne te sɛ anadwo anifurae nso bere a wɔrenyin no. Nanso, anifurae koraa ho yɛ na koraa.

Nanso, mmarima wɔ X chromosome biako pɛ. Enti, sɛ wɔwɔ saa awosu mu abɔde a ɛtɔ sin yi wɔ saa X chromosome no so a, ɛda adi sɛ wobenya choroideremia.

Ɔbarima bi a ɔwɔ saa yare yi de ne X chromosome a asɛe no kɔma ne mmabea . Afei saa mmabea no bɛyɛ wɔn a wɔde yare no kɔ. Saa mmabea a wɔsoa nneɛma no wɔ hokwan 50% (baako wɔ baanu biara mu) sɛ wɔde X chromosome a asɛe no bɛma wɔn mma.

Ɔkwan bɛn so na wohu sɛ obi anya Choroideremia? Sɔhwɛ ahorow bɛn na wɔyɛ?

Sɛ wowɔ sɛnkyerɛnne ahorow a yɛaka ho asɛm wɔ atifi hɔ no bi a, akyinnye biara nni ho sɛ ɛsɛ sɛ wokɔ aniwa ho oduruyɛfo nkyɛn. Ɔbɛhwehwɛ w’ani mu yiye. Wɔ aniwa mu nhwehwɛmu a wɔyɛ no daa akyi no, wobetumi aka akyerɛ wo sɛ yɛ nhwehwɛmu titiriw bi te sɛ:

• Electroretinogram (ERG): Saa sɔhwɛ yi susuw sɛnea wo retina yɛ n’ade wɔ hann ho. Ɛwom sɛ ebia ɛbɛyɛ te sɛ sɔhwɛ a emu yɛ den de, nanso nokwarem no, ɛnyɛ yaw kɛse. Wɔde electrode nketewa sisi w’anim, w’ani ho, ne wo ti nhwi so. Afei, wɔde waya a ɛyɛ tratraa paa (ebia ahwehwɛ) gu w’ani so tẽẽ, wɔ w’aniwa a ɛwɔ fam no atifi pɛɛ. Afei wɔma dan no mu yɛ sum na wɔde akanea ahorow hyerɛn w’ani so de hu sɛnea nkwammoaa a ɛwɔ wo retina no mu no reyɛ adwuma. Eyi betumi ama woanya sɛnea wo retina reyɛ adwuma no ho nsɛm a ɛsom bo.
• Optical Coherence Tomography (OCT): Eyi nso yɛ sɔhwɛ a ɛnyɛ yaw, a ɛnyɛ nea wɔde hyɛ nipadua mu. Ɛte sɛ w’ani mu scan. Ɛde hann soronko di dwuma de twa w’ani mu mfonini a wɔatwa no ntwea so, titiriw retina ne choroid. Eyi betumi akyerɛ sɛnea saa nsensanee yi mu duru te ne ɔsɛe biara a ebia ɛde aba no pefee.
• Fluorescein Angiography: Wɔ sɔhwɛ yi mu no, wɔde aduru titiriw bi gu ntini bi a ɛwɔ wo basa mu mu. Bere a aduru no fa mogya ntini a ɛwɔ w’aniwa mu no mu no, mfoninitwa afiri titiriw bi twa w’ani no mu mfonini. Eyi betumi aboa ma woahu sɛnea mogya ntini a ɛwɔ choroid ne retina no te te sɛ sɛ ebia asɛe anaasɛ mogya retu.
• Awosu mu nhwehwɛmu: Eyi ne ɔkwan a wotumi de ho to so sen biara a wɔfa so hu nsonsonoe a ɛda Choroideremia ne nyarewa afoforo a ɛwɔ sɛnkyerɛnne a ɛte saa ara te sɛ Retinitis Pigmentosa ntam. Nea ɛka eyi ho ne sɛ wubegye wo mogya, wo ti nhwi, wo honam ani, ntini, anaa ɛtɔ mmere bi a wo awotwaa mu nsu bi afi wo ba a ɔwɔ awotwaa mu no mu, na woasɔ awosu mu nkwaadɔm a ɛwɔ mu no ahwɛ. Eyi betumi aboa ma woahu sɛ ebia wowɔ awosu mu nkwaadɔm a ɛde Choroideremia ba no mu nsakrae bi anaa.

So aduru bi wɔ hɔ a wɔde sa Choroideremia?

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde sa choroideremia. Ebia eyi bɛma woadi awerɛhow, nanso ɛno yɛ ade a ɛfata.

Nanso, ɛno nkyerɛ sɛ yɛrentumi nyɛ hwee. Ɛwom mpo sɛ wontumi nsa yare no de, nanso yebetumi asa ɔhaw afoforo a yare no de ba no. Nhwɛsoɔ:

• Akwan a wɔfa so hu ade a ɛba fam: Bere a anisoadehu so tew nkakrankakra no, mfiri ahorow bi wɔ hɔ a ebetumi aboa wɔ da biara da nnwuma mu. Nhwɛso ahorow bi ne ahwehwɛ a ɛma nneɛma kɛse yɛ kɛse, mfiri titiriw a wɔde sɔ kanea, ne dɔn a ɛkasa.
• Afotu a wɔde ma wɔ adwenemyare ho:Yare a ɛte saa a wontumi nsa a wobɛtra ase no betumi ayɛ adwene mu den, enti ɛho hia yiye sɛ wobɛhwehwɛ mmoa afi adwenemyare ho oduruyɛfo anaa ɔfotufo hɔ.
• Awosu mu afotu: Esiane sɛ eyi yɛ awosu mu yare nti, awosu mu afotu so wɔ mfaso kɛse na ama abusua mufo afoforo ahu eyi na wɔate sɛnea ebetumi aka awo ntoatoaso a ɛbɛba daakye no ase.

Daakye bɛn na obi a ɔwɔ Choroideremia wɔ?

Mpɛn pii no, obi a ɔwɔ choroideremia no bɛhwere n’aniwa a ɛwɔ akyirikyiri bere a bere kɔ so no. Awiei koraa no, ebia mfinimfini anisoadehu nkutoo na aka. Ɛno akyi no, ebia nnipa binom anifurae koraa. Eyi betumi ayɛ soronko wɔ onipa biara ho. Nnipa binom hwere wɔn ani so bere kɔ so, na afoforo nso hwere bere kɔ so.

Mma eyi mma w’abam mmu. Aduruyɛ ho nyansahu renya nkɔso da biara da. Wɔrehwehwɛ nhwehwɛmu foforo ne ayaresa foforo bere nyinaa.

Mɛyɛ dɛn ahwɛ me ho?

Sɛ wɔahu sɛ wowɔ choroideremia mpo a, nneɛma bi wɔ hɔ a wubetumi ayɛ de ahwɛ wo ho yiye. Asetra pa a wobɛkɔ so akura mu no ho hia yiye, wɔ tebea yi mpo mu.

• Di aduan pa a ahoɔden wom. Di nhabannuru a ɛyɛ ahabammono, nnuaba, ne nam a ɛnyɛ den pii. Tew nkyene, asikre, ne srade a ɛmfata a ɛboro so so sɛnea wubetumi biara.
• Nya apɔw-mu-teɛteɛ a ɛdɔɔso. Biribi a ɛnyɛ den te sɛ da biara da nantew mpo ye.
• Sɛ wonom sigaret a, gyae. Ɛnyɛ sɛ sigaretnom yɛ bɔne ma w’ani nko, na mmom ɛyɛ bɔne ma wo nipadua nyinaa nso.
• Kɔ w’ani duruyɛfo nkyɛn daa na ɔnkɔhwɛ w’ani. Saa kwan no so no, wubetumi ahu sɛnea wo tebea no te ne ayaresa foforo.
• Da sɛnea ɛsɛ.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wuhu nsakrae biara wɔ w’ani so, te sɛ anadwo nhumu a ɛso atew, w’ani a wohu a ɛso atew, anaa w’ani a enhu ade yiye a, kɔ oduruyɛfo nkyɛn ntɛm ara. Titiriw sɛ wuhu nsakrae mpofirim wɔ w’ani so anaasɛ w’ani yɛ wo yaw a, eyi betumi ayɛ aduruyɛ mu asɛm a egye ntɛmpɛ.

Afei nso, sɛ ɛyɛ den ma wo sɛ wobɛyɛ wo da biara da dwumadi ahorow a, wo ne wo duruyɛfo nkasa mfa ɛno nso ho asɛm. Ebia ɛbɛyɛ papa sɛ wubebisa sɛ wofata sɛ wode wo ho hyɛ nneɛma te sɛ awosu mu ayaresa ho sɔhwɛ ahorow mu anaa .

Nsonsonoe bɛn na ɛda Choroideremia ne Gyrate Atrophy a ɛwɔ Choroid ne Retina mu no ntam?

Nyarewa abien yi nyinaa yɛ awosu mu tebea horow. Ebia yare no ho sɛnkyerɛnne no te saa ara. Nanso, nsonsonoe a ɛda adi pefee wɔ abien no ntam.

• Agyapade kwan so: Choroideremia yɛ yare a ɛne X wɔ abusuabɔ. Eyi kyerɛ sɛ ɛnam X chromosome so na wonya fi awo mu. Gyrate Atrophy of the Choroid and Retina yɛ yare a ɛma nipadua no tumi kɔ nipadua no mu . Eyi kyerɛ sɛ, sɛ abofra betumi anya yare no a, ɛsɛ sɛ onya awosu mu nkwaadɔm a asɛe no fi ɛna no ne agya no nyinaa hɔ.
• Mutated gene: Awosu mu nkwaadɔm mu nsakrae a ɛde nyarewa abien no nyinaa ba no nso yɛ soronko.

Nneɛma a ɛho hia sen biara a ɛsɛ sɛ yesua fi eyi mu (Take-Home Message) .

Ɛyɛ nokware sɛ choroideremia yɛ yare a ɛntaa nsi, a wontumi nsa a ebetumi ama obi aniwa nhu ade nkakrankakra na n’ani afura mpo. Ɛyɛ ade a ɛfata sɛ wubenya nkate ahorow a adi afra bere a wuhu sɛ wowɔ yare a ɛte saa no.

Nanso kae sɛ ɛnyɛ wo nko ara. Ma wo ne w’aduruyɛfo kuw no nya abusuabɔ a emu yɛ den. Wɔwɔ hɔ sɛ wɔbɛboa wo. Wɔrekɔ so ayɛ nhwehwɛmu de ahwehwɛ ayaresa ne ayaresa a wɔde bɛsa choroideremia, ne awosu mu nyarewa afoforo nso. Na nneɛma ne nnwuma wɔ hɔ dedaw a ebetumi aboa wo wɔ w’ahiade ahorow ho. Sɛ wugye afoforo mmoa tom a, ebetumi ama w’asetra ayɛ mmerɛw kakra.

Nya anidaso bere nyinaa. Bere a aduruyɛ ho nyansahu renya nkɔso no, ebia ayaresa foforo bɛba daakye.

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` Choroideremia, aniwa mu yare, aniwa a ɛyera, awosu mu yare, anadwo anifurae, retina, choroid, X-linked, awosu mu nhwehwɛmu, anifurae