So wunim tebea a ɛntaa nsi yi? Koma ne honam ani yare a Ɛyare

So woate Cardiofaciocutaneous Syndrome, anaa CFC Syndrome sɛnea yɛfrɛ no tiawa no ho asɛm pɛn? Ɛyɛ tebea a ɛntaa nsi, a ɛkyerɛ sɛ ɛnyɛ yare a ɛka obiara. Nanso ebetumi aka yɛn nipadua no afã horow pii. Ɛka koma (cardio-), anim (facio-), ne honam ani ne ti nhwi (cutaneous) titiriw. Ɛnyɛ ɛno nko, na mmom saa tebea yi nso betumi ama mmofra nkɔso akyɛ na wɔanya adwene mu nkɔso ho haw ahorow. Enti, momma yɛnka ho asɛm nkɔ akyiri, ɛnte saa?

Dɛn ankasa ne Koma ne Faciocutaneous Syndrome (CFC Syndrome)?

Sɛ yɛbɛka no tiawa a, eyi yɛ awosu mu tebea . Ɛne sɛ, nsakrae (mutation) a ɛba yɛn awosu mu nkwaadɔm mu na ɛde ba. Eyi yɛ yareɛ a ɛka nyarewa kuo bi a wɔfrɛ no `RASopathy` ho. `RASopathies` yɛ awosu mu tebea horow kuw bi a efi sintɔ bi a ɛwɔ `RAS kwan` no mu, ɔkwan a nkwammoaa a ɛwɔ yɛn nipadua mu fa so ne wɔn ho wɔn ho di nkitaho. Susuw ho te sɛ yɛn nipadua mu nkwammoaa no sesa nkrasɛm nketenkete. Sɛ saa nkrasɛm a wɔde sesa yi ankɔ yiye a, ɔhaw ahorow betumi asɔre.

Ɛdefa sɛnea CFC yare no abu so ho no, nokwarem no, ɛntaa nsi koraa . Amanneɛbɔ ahorow bi kyerɛ sɛ tebea no ka mmofra bɛyɛ 810,000 biara mu biako. Aduruyɛ ho kyerɛwtohɔ ahorow ka nsɛm ɔhaha kakraa bi pɛ ho asɛm. Nanso, nyansahufo gye di sɛ dodow no betumi akɔ soro koraa. Nea enti a ɛte saa ne sɛ ɛtɔ mmere bi a, yare no ho sɛnkyerɛnne no nyɛ den araa ma wontumi nhu. Wobetumi de CFC yare no nso afrafra awosu mu tebea afoforo mu.

Dɛn ne CFC yare no ho sɛnkyerɛnne ahorow a ebetumi aba?

Nsɛnkyerɛnne no betumi ayɛ soronko koraa wɔ onipa biara ho. Nnipa binom nya yare no ho sɛnkyerɛnne a emu nyɛ den koraa, bere a afoforo nso betumi anya yare no ho sɛnkyerɛnne a emu yɛ den kɛse. Afei nso, saa sɛnkyerɛnne ahorow yi betumi aka nipadua no afã horow.

Nsɛnkyerɛnne a ɛfa koma ho

Mpɛn pii no, wɔwo mmofra a wɔwɔ CFC yare no a wɔwɔ komayare ahorow bi . Wɔfrɛ eyinom koma mu dɛmdi a wɔde awo obi. Ɛtɔ mmere bi a, wotumi hu saa sɛnkyerɛnne ahorow yi wɔ awo mu, anaasɛ ebetumi ada adi akyiri yi. Nhwɛso kakraa bi ni:

• Koma mu ntini a ɛnteɛ a ɛka mogya a efi koma no mu kɔ ahurututu mu no a wobenya.
• Koma mu nwiinwii yɛ nnyigyei a ɛnteɛ a wɔte wɔ koma no mu.
• Tokuru bi a ɛda koma no ase adan abien no ntam (Ventricular Septal Defect).
• Atrial Septal Defect (ASD) yɛ tokuru a ɛda koma no atifi adan abien no ntam.
• Koma ntini a ɛyɛ mmerɛw anaasɛ ɛyɛ den (Hypertrophic Cardiomyopathy).

Nsɛnkyerɛnne a ɛfa honam ani ne ti nhwi ho

Ɛkame ayɛ sɛ obiara a ɔwɔ saa tebea yi behu nsakrae bi wɔ ne honam ani ne ne ti nhwi mu.

• Wo honam ani a ɛyɛ nwunu na ɛyɛ mmerɛw a wubenya . Ebia ɛnyɛ mmerɛw te sɛ akokoaa were, na mmom ɛyɛ mmerɛw kakra na ɛyɛ mmerɛw.
• Awo agyiraehyɛde a ɛyɛ sum (nevi) .Sɛ wohu pii.
• Aniwa nhwi anaa aniwa a ɛso tew anaasɛ ayera .
• Nwi yɛ teateaa, ɛyɛ mmerɛw, ɛyɛ mmerɛw, na ɛyɛ kurukuruwa .
• Nsõ nketenkete a ɛte sɛ akisikuru (Keratosis Pilaris) a ɛba nsa, anan, ne anim.
• Wora a ayɛ nwininwini wɔ nsateaa ne nan ase.

Nsakrae a ɛba wɔ anim hwɛbea mu

Wobetumi ahu nneɛma pɔtee bi nso wɔ mmofra a wɔwɔ saa yare yi anim hwɛbea mu.

• Anim a ɛtrɛw na ɛyɛ tenten .
• Aniwa a ɛhwe ase (Ptosis).
• Aniwa no ntam kwan a ɛkɔ soro ne aniwa no a ɛkɔ fam.
• Moma so korɔn na ɛyɛ teateaa wɔ n’afã abien no nyinaa.
• Ti a ɛsõ sen sɛnea ɛte daa a obi benya (Macrocephaly).
• Aso no wɔ baabi a ɛba fam sen sɛnea ɛte daa.
• Hwene tiawa bi.
• Abɔso ketewaa bi.

Ɔhaw afoforo a ebia mmofra behyia

Mmofra a wɔwɔ saa tebea yi betumi ahyia ɔhaw afoforo bi:

• Onyin a ɛkyɛ ne adwene mu nkɔso ho haw ahorow (a ɛtaa yɛ nea ɛkɔ fam kosi nea emu yɛ den).
• Adidi a ɛyɛ den .
• Nsu a ɛboro so wɔ amemene no mu (Hydrocephalus).
• Nkwammoaa a ɛma obi nyin no dodow so tew.
• Ntini a ɛma obi ho kyere no .
• Mu duru a ɛkɔ soro ne onyin a entumi nyɛ yiye (Failure to thrive).
• Anisoadehu mu haw ahorow .
• Ntini a ɛyɛ mmerɛw na ɛyɛ mmerɛw (Hypotonia).

Dɛn na ɛde CFC yare no ba?

CFC yare no fi nkwaadɔm mu nsakrae (nsakrae) a ɛba awosu mu nkwaadɔm pii no mu biako mu. Saa awosu mu nkwaadɔm yi ne:

• `BRAF` gene (ɛtaa nya so nkɛntɛnso) .
• `MAP2K1` ne `MAP2K2` awosu mu nkwaadɔm (nea ɛto so abien a ɛtaa ba) .
• `KRAS` awosu mu abɔde (ɛho yɛ na) .

Saa awosu mu nkwaadɔm yi kyerɛ yɛn nipadua ma ɛyɛ protein ahorow a ɛho hia ma nkwammoaa nkitahodi. Wɔfrɛ saa nkitahodi nhyehyɛe yi `RAS/MAPK kwan`. Saa adeyɛ yi ho hia na ama awotwaa anyin.

Nanso, wɔanhu sɛ nnipa binom a wɔahu sɛ wɔwɔ CFC yare no wɔ awosu mu nsakrae yi mu biara. Nyansahufoɔ gye di sɛ ebia nnipa a wɔte saa no wɔ `Costello Syndrome` anaa `Noonan Syndrome`.

So CFC yare no fi awosu mu?

Mpɛn pii no, CFC yare no nyɛ nea wonya fi awo mu . Saa awosu mu nkwaadɔm mu nsakrae yi taa ba ara kwa bere a awotwaa no nyin no. Nnipa dodow no ara a wɔwɔ saa tebea yi nni abusua abakɔsɛm biara a ɛfa yare no ho.

Nanso, ɛntaa mma koraa , wobetumi anya saa yare yi fi awo ntoatoaso mu kɔ awo ntoatoaso so. Sɛ ɛyɛ agyapadeɛ a, ɛyɛ ``Autosomal Dominant'' kwan so. Eyi kyerɛ sɛ sɛ abofra bi nya awosu mu nkwaadɔm a wɔayɛ no foforo no biako fi ɔwofo biako a onni yare no nanso okura awosu mu nkwaadɔm a wɔayɛ no foforo no hɔ mpo a, abofra no betumi anya yare no.

Ɔkwan bɛn so na wobehu tebea yi?

Ɛtɔ da bi a, wohu CFC syndrome ansa na wɔawo akokoaa no, bere a wɔyem no, .Ultrasound a wɔde yɛ ansa na wɔawo no betumi ama wɔanya nsɛnkyerɛnne, te sɛ nsu a ɛwɔ awotwaa mu a atwa akokoaa no ho ahyia no dodow a ɛkɔ soro, anaasɛ akokoaa no ti ne ne nipadua a ɛsõ sen sɛnea wɔhwɛɛ kwan.

Nanso, wɔtaa hu tebea no wɔ nkokoaabere mu . Sɛ wo ba no wɔ nipadua mu sɛnkyerɛnne ahorow a ɛfa tebea yi ho a, oduruyɛfo betumi ahyɛ sɛ wɔnyɛ nhwehwɛmu te sɛ:

• Hwɛ sɛnea akokoaa no koma yɛ adwuma denam nhwehwɛmu te sɛ `Electrocardiogram (ECG)` , `Echocardiogram` , anaa `Cardiac Catheterization` so .
• Molecular Genetic Testing a wɔde hu awosu mu nkwaadɔm mu nsakrae. Mpɛn pii no, eyi hwehwɛ sɛ wogye mogya anaa nkwammoaa a wogye fi afono no mu.
• X-ray, CT scan, MRI, anaa ultrasound nhwehwɛmu de hwɛ sɛ ebia nkɔso bi a ɛnteɛ wɔ akokoaa no koma, n’amemene, anaa akwaa afoforo mu anaa.
• Sɔ amemene mu asorɔkye ne akisikuru dwumadi hwɛ denam `Stereoelectroencephalography (SEEG)` so .
• Fa anisoadehu nhwehwɛmu te sɛ `Ophthalmoscopy` hwɛ akokoaa no aniwa mu.

Ɔkwan bɛn so na wɔsa CFC yare no?

Nokwarem no, wonni aduru pɔtee biara a wɔde sa CFC yare no. Mmofra a wɔwɔ saa tebea yi hia nnuruyɛfo kuw bi a wɔwɔ nnuruyɛ soronko ahorow mmoa, a nea ɛka ho ne:

• Koma ho ɔyaresafo
• Oduruyɛfo a ɔhwɛ honam ani yare
• Endocrinologist (oduruyɛfo a ne ho akokwaw wɔ endocrine nhyehyɛe mu) .
• Oduruyɛfo a ne ho akokwaw wɔ aduan mu nneɛma mu (Gastroenterologist) .
• Awosu ho ɔbenfo
• Ntini ho ɔbenfo bi
• Adwuma mu Ɔyaresafo
• Aniwa ho ɔyaresafo
• Mmofra oduruyɛfo
• Apɔw-mu-teɛteɛ Ho Ɔbenfo
• Oduruyɛfo a ɔhwɛ mframa so
• Ɔkasa Ho Ɔyaresafo

Ayaresa a wobetumi apaw no gu ahorow kɛse a egyina abofra biara ahiade so. Nanso, ebia nea ɛka ho ne:

• Nnuru a ekum ɔyare mmoawa a wɔde siw nyarewa ano, titiriw sɛ abofra no wɔ komayare biara a.
• Fa nnuru a ekum akisikuru di akisikuru so .
• Nsu a wɔde ma aduan a wɔde fa abofra no hwene mu anaa yafunu no honam ani de bɛhyɛ mu na ama wɔanya calories ne aduannuru.
• Fa ahwehwɛ, ahwehwɛ a wɔde hwɛ ade, anaa oprehyɛn ma wohu ade yiye .
• Nnuan a ahoɔdennuru pii wom na ahoɔden wom .
• Nnuru anaa srade a wɔde bɛma honam ani a ɛyɛ mmerɛw no ho atɔ wo.
• Nnuru a wɔde ma abofra no koma yɛ adwuma yiye anaasɛ ɛma aduan mu haw ahorow fi hɔ.
• Nnuru a wɔde ma onyin mu ahoɔdennuru dodow kɔ soro.
• Shunt a wɔde besi hɔ de ayi nsu a ɛboro so a atwa abofra no amemene ho ahyia na ɛtew nhyɛso so.
• Oprehyɛn a wɔyɛ de siesie koma no mu nsɛm a ɛnteɛ. Ebia ɛho behia sɛ wɔyɛ mmofra binom koma oprehyɛn de siesie ahurututu mu ntini bi a ɛnyɛ ne kwan so.

Nkwa nna bɛn na obi di wɔ CFC yare no ho?

Obi a ɔwɔ CFC yare no nkwa nna gyina sɛnea ne sɛnkyerɛnne ahorow no mu yɛ den so. Nanso, sɛ wohu yare no yiye na wɔsa wɔn yare a, nnipa dodow no ara a wɔwɔ yare no tra ase sɛnea ɛsɛ.

Nea ɛho hia paa ne sɛ wɔbɛma abofra no anya mmoa ne ayaresa a ohia wɔ bere a ɛfata mu, na ama watumi abɔ bra a eye sen biara.

So wobetumi asiw CFC yare no ano?

Esiane sɛ awosu mu nsakrae a ɛba kwa na ɛde tebea yi ba nti, ɔkwan biara nni hɔ a wɔbɛfa so asiw nsakrae a ɛde CFC yare ba no ano.

Dɛn bio na ɛsɛ sɛ mibisa me duruyɛfo fa CFC syndrome ho?

Sɛ wo ba wɔ CFC syndrome a, ɛbɛyɛ papa sɛ wubebisa wo duruyɛfo nsɛm te sɛ eyinom:

• So eyi betumi ayɛ `Costello Syndrome` anaa `Noonan Syndrome`? Adɛn nti na woka / wonka saa?
• So saa awosu mu nsakrae yi fi awo mu anaasɛ ɛbae ara kwa?
• So me ba no wɔ komayare bi?
• So nsu a ɛboro so wɔ me ba no amemene mu?
• So me ba no benya akisikuru?
• So tebea yi bɛka me ba no anisoadehu?
• So ebehia sɛ wɔyɛ me ba no oprehyɛn anaa nnuru?
• Yɛbɛyɛ dɛn ahwɛ ahu sɛ me ba no benya aduannuru a ohia?
• So sɛnkyerɛnne titiriw bi wɔ hɔ a ɛsɛ sɛ mebɔ oduruyɛfo no amanneɛ?
• Adwene mu dɛmdi mu yɛ den dɛn?
• Nnuruyɛfo atitiriw bɛn na ɛsɛ sɛ yɛkɔ wɔn nkyɛn na mpɛn ahe?
• So mmoa akuw bi wɔ hɔ a wobetumi aboa yɛn ma yɛadi tebea yi ho dwuma?
• So wokamfo awosu ho afotu kyerɛ?

Nsonsonoe bɛn na ɛda CFC yare, Costello yare, ne Noonan yare no ntam?

CFC yare no ho sɛnkyerɛnne te sɛ Costello Syndrome ne Noonan Syndrome de no ara pɛ. Awosu mu tebea abiɛsa yi mu nsonsonoe betumi ayɛ den kakra, titiriw wɔ nkokoaabere mu.

Nanso, awosu mu nsakrae ahorow na ɛde tebea abiɛsa no nyinaa ba . Afei nso, nea ɛnte sɛ CFC yare no, obi a ɔwɔ Costello Syndrome no wɔ asiane kɛse mu sɛ obenya kokoram .

Sɛ wudi kan te sɛ wo ba no wɔ awosu mu yare bi te sɛ Cardiofaciocutaneous Syndrome (CFC Syndrome) a, ebia nkate horow bɛhyɛ wo so. Akwantu a ɛkɔ sɛ wobehu yare no betumi ayɛ bere a wɔahyɛ ato hɔ a ɛyɛ hu. Na sɛ wonya mmoa a wo ba no hia nyinaa a, wo nna betumi ayɛ nea adagyew nnim. Nanso ɛho hia sɛ wugye bere ma wo ho na wobɔ mmɔden sɛ wubedi w’adwennwen so.Hwehwɛ akwan a wobɛfa so ne mmofra a wɔwɔ tebea horow a wɔntaa nhu awofo afoforo adi nkitaho. Mpɔtam pii wɔ Intanɛt so, na ebia wo ba no nnuruyɛfo nim nkitahodi a ɛte saa.

Nkrasɛm a Wɔde Kɔ Fie

Cardiofaciocutaneous syndrome (CFC Syndrome) yɛ awosu mu tebea a ɛntaa nsi nanso ebetumi asɛe ade. Sɛ wohu sɛ wowɔ saa tebea yi a, mma wo ho nnpopo.

• Saa tebea yi betumi aka abofra no koma, n’anim, ne honam ani, ne ti nhwi, ne ne nyin.
• Ɛwom sɛ wonni aduru pɔtee biara de, nanso ayaresa ahorow ne nnuruyɛ mu mmoa titiriw bi wɔ hɔ a ebetumi aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow ho dwuma .
• Mmofra dodow no ara betumi atra ase sɛnea ɛsɛ bere a wɔasa wɔn yare na wɔahwɛ wɔn yiye no.
• Ɛnyɛ wo nko ara. Nya mmoa fi nnuruyɛfo, afotufo, ne awofo mmoa akuw afoforo hɔ.
• Nea ɛho hia sen biara ne sɛ wobɛdɔ wo ba na woaboa no na woayɛ adwuma de ama no asetra a eye sen biara.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, ntwentwɛn wo nan ase sɛ wo ne wo duruyɛfo bɛkasa. Wobetumi ama wo nkyerɛkyerɛmu ne akwankyerɛ foforo.

` Cardiofaciocutaneous syndrome, CFC Syndrome, Awosu mu nyarewa, Koma mu yare, Honam ani nyarewa, Onyin a ɛmma wonnya nkɔso, Mmofra akwahosan, RASopathy