So obi wɔ w’abusua mu a ɔwɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Bannayan-Riley-Ruvalcaba Syndrome (BRRS) ho asɛm .

Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi nanso ɛho hia yiye ho asɛm. Wɔfrɛ no Banyan-Riley-Ruvalcaba Syndrome, anaa ``BRRS'' tiawa. Ɛyɛ awosu mu tebea. Ɛne sɛ, nsakrae ketewaa bi a ɛba yɛn nipadua mu awosu mu nneɛma mu na ɛde ba. Saa tebea yi ma asiane a ɛwɔ hɔ sɛ wobenya akisikuru a ɛnyɛ ne kwan so (``tumors'') wɔ nipadua no afã horow no yɛ kɛse. Mma ɛnhaw wo, momma yɛnte eyi ase kɛkɛ.

Dɛn ne Banyan-Riley-Ruvalcaba Yare (BRRS)?

Sɛ yɛbɛka no tiawa a, `(BRRS)` yɛ awosu mu tebea . Ɛka nyarewa kuw bi a wɔfrɛ no `(PTEN hamartoma tumor syndrome (PHTS))` ho. Ebia woate `(Cowden syndrome)` nso ho asɛm, a ɛno nso hyɛ saa `(PHTS)` kuw yi mu.

Saa `(BRRS)` tebea yi taa fi nsakrae, anaasɛ mutation , wɔ awosu mu abɔde bi a wɔfrɛ no `(PTEN)` mu wɔ yɛn nipadua mu. Saa `(PTEN)` awosu mu abɔde yi na ɛhwɛ yɛn nkwammoaa nyin so, titiriw protein ahorow a ɛhwɛ akisikuru nyin so. Enti, esiane sɛ saa `(PTEN)` awosu mu abɔde a ɛwɔ obi a ɔwɔ `(BRRS)` mu yi ntumi nyɛ adwuma yiye nti, wɔn nkwammoaa betumi anyin a wontumi nni so. Eyi ma asiane a ɛwɔ hɔ sɛ obi benya hamartomas , ne akisikuru afoforo a kokoram ne nea enni kokoram no yɛ kɛse. Nea ɛka ho no, asiane a ɛwɔ hɔ sɛ obi benya kokoram ahorow pii nso yɛ kɛse.

Nea ɛka ho no, ebia awo mu duru bɛkɔ soro, ne ti kɛse a ɛboro nea wɔtaa yɛ (macrocephaly), mmarima awotwaa, ne nkɔso ne adwene mu akyɛde ahorow bɛba.

Edin afoforo bɛn na wɔde di dwuma ma `(BRRS)`?

Wɔde din afoforo pii frɛ saa tebea yi. Ebia woate din ahorow yi mu biako:

• Riley-Smith yare a ɛma obi nya ɔyare no
• Ruvalcaba-Myhre yare a ɛma obi nya ɔyare no
• Ruvalcaba-Myhre-Smith yare a ɛma obi nya ɔyare no
• Bannayan-Zonana yare a ɛma obi nya ɔyare no

Saa `(BRRS)` tebea yi abu so dɛn?

Ɛyɛ den sɛ yɛbɛka sɛnea tebea yi abu so ankasa, efisɛ ɛsono sɛnkyerɛnne ahorow no kɛse wɔ onipa biara mu. Nsɛnkyerɛnne no bi yɛ anifere koraa. Nanso nhwehwɛmufo dodow no ara gye di sɛ eyi yɛ tebea a ɛntaa nsi koraa .

Dɛn ne `(BRRS)` ho sɛnkyerɛnne?

Bannayan-Riley-Ruvalcaba yare no ho sɛnkyerɛnne ahorow gu ahorow yiye. Ebia nnipa binom benya saa sɛnkyerɛnne ahorow yi pii, bere a afoforo nso betumi anya kakraa bi pɛ. Momma yɛnhwɛ sɛnkyerɛnne atitiriw a yebetumi ahu:

• Awo mu duru ne ne tenten a ɛkɔ soro .
• Ti a ɛsõ sen sɛnea ɛte daa (macrocephaly).
• Sɛ wohu nsensanee (pigmented macules) wɔ mmarimaa awotwaa mu.
• Ntini a ɛnyɛ den (hypotonia). Fa no sɛ, sɛ wofa akokoaa a, ɔte nka sɛ ne akwaa no ayɛ mmerɛw kakra.
• Ɔkasa ne/anaasɛ nipadua mu ahoɔden a wɔde yɛ adwuma no nkɔsoNkɔso a ɛkyɛ.
• Eyi betumi aka nnipa a wɔn adwene mu yɛ wɔn naa (BRRS) bɛyɛ 50%.
• Autism spectrum disorder (`(Autism spectrum disorder)`) - Wɔahu sɛ mmofra a wɔwɔ autism no mu bɛyɛ 20% wɔ nkwaadɔm mu nsakrae wɔ `(PTEN)` awosu mu abɔde mu.
• Ntini mu mmerɛwyɛ .
• Hamartomas yɛ nkwammoaa ne ntini a ɛwɔ dwensɔtwaa mu a ɛnyɛ kokoram, a enyin wɔ ɔkwan a ɛnteɛ so.
• Nkwaa a ɛyɛ mmerɛw dodo .
• Akisikuru a ɛte sɛ akisikuru (`(akisikuru)`).
• Pectus excavatum - Wei ye tebea a ɛma koko dompe no mfinimfini kɔ mu.
• Scoliosis a ɛma obi ho kyere no .
• Acanthosis nigricans (`(Acanthosis nigricans)`) - Wora a ɛyɛ tumm wɔ nipadua no mpopaho ne mmeae te sɛ nsateaa, kɔn, ne nea ɛkeka ho.
• Srade a ɛyɛ akisikuru (lipomas) a ɛba honam ani.
• Nkuruwa a ɛnyɛ kokoram a srade ne mogya ntini (angiolipomas) na ɛyɛ.
• Nsonsonoe a ɛte sɛ awo agyiraehyɛde (hemangiomas) a efi mogya ntini foforo a ɛboaboa ano wɔ honam ani no mu ba.

Kae sɛ ɛnyɛ obiara na ɔwɔ saa su ahorow yi nyinaa. Ebia nnipa binom wɔ wɔn mu kakraa bi pɛ.

Dɛn ne nneɛma a ɛde `(BRRS)` ba?

Nneɛma atitiriw abien nti na saa ``(BRRS)`` tebea yi ba:

1. Nsakrae bi a ɛba wo `(PTEN)` awosu mu abɔde mu. (Eyi ne ade a ɛtaa de ba.)

2. Awosu mu nneɛma a wɔpopa kɛse a ɛka wo `(PTEN)` awosu mu abɔde no nyinaa anaa ne fã bi ho. (Eyi ba wɔ bɛyɛ 10% mu.)

Sɛnea yɛadi kan aka ho asɛm no, wo PTEN awosu mu abɔde no yɛ protein bi a ɛhwɛ ma akisikuru nyin. Sɛ saa awosu mu abɔde yi nni hɔ anaasɛ entumi nyɛ adwuma yiye a, wo nkwammoaa no fi ase kyekyɛ a wuntumi nni so. Eyi de hamartomas ne akisikuru afoforo a ɛyɛ kokoram ne nea ɛnyɛ kokoram ba.

Nanso, abenfo da so ara nnim sɛnea nkwaadɔm mu nsakrae a ɛba PTEN awosu mu abɔde mu no de BRRS ho sɛnkyerɛnne afoforo te sɛ macrocephaly (ti kɛse), ntini ne nnompe a ɛnyɛ ne kwan so, ne nkɔso ne adwene a ɛkyɛ ba no ankasa.

So `(BRRS)` twam fi awo ntoatoaso so kɔ awo ntoatoaso so?

Yiw, awofo betumi de tebea `(BRRS)` no akɔma wɔn mma. Wɔfrɛ eyi `(autosomal dominant agyapade )`. Sɛ yɛbɛka no tiawa a, sɛ ɔwofo no mu biara wɔ `(PTEN)` awosu mu abɔde a wɔayɛ no foforo no biako a, wɔn ba no wɔ hokwan 50% sɛ obenya tebea no afi awo mu.

Ɔkwan bɛn so na wobehu `(BRRS)`?

Sɛ oduruyɛfo bi susuw sɛ ebia wowɔ BRRS a, ɛda adi sɛ wɔbɛhyɛ sɛ wɔnyɛ awosu mu nhwehwɛmu nhwɛ PTEN awosu mu abɔde no.Wɔkamfo kyerɛ sɛ wɔnyɛ awosu mu nhwehwɛmu. Eyi hwehwɛ adeyɛ bi a wɔfrɛ no awosu mu nkwaadɔm a wɔde di dwuma nnidiso nnidiso. Eyi kyerɛ sɛ wɔhwehwɛ awosu mu abɔde no fã biara mu hwɛ sɛ nsakrae anaa nkwaadɔm mu nsakrae bi wɔ hɔ anaa.

Saa `(PTEN)` sɔhwɛ yi yɛ pɛpɛɛpɛ yiye. Sɛ wo duruyɛfo hu `(PTEN)` gene mutation a, wobetumi de ahotoso 100% asi so dua sɛ wowɔ `(BRRS)`. Nanso, nnipa a wɔwɔ `(BRRS)` sɛnkyerɛnne no mu 60% pɛ na wɔwɔ awosu mu nkwaadɔm mu nsakrae a wotumi hu. Wei kyerɛ sɛ nnipa a wɔwɔ `(BRRS)` sɛnkyerɛnne no mu bɛyɛ 40% betumi anya nhwehwɛmu aba a ɛfata. Sɛ w’ani gye ho sɛ wobɛyɛ `(PTEN)` ho nhwehwɛmu a, wo ne wo duruyɛfo nkasa.

Ɔkwan bɛn so na wɔyɛ `(BRRS)`?

Ayaresa pɔtee biara nni hɔ a wɔde sa ``(BRRS)''. Mmom no, nea ɛka Bannayan-Riley-Ruvalcaba yare no ho ayaresa hwehwɛ sɛ wobedi wo sɛnkyerɛnne ne sɛnkyerɛnne soronko no ho dwuma .

Ɛsɛ sɛ wɔyɛ nnipa a wɔwɔ BRRS no mu nhwehwɛmu daa sɛ ebia wɔwɔ kokoram ahorow, sɛ́ ebia wɔwɔ sɛnkyerɛnne ahorow anaasɛ wonni bi no. Nnuruyɛfo kamfo kyerɛ sɛ ɛsɛ sɛ nnipa a wɔahu sɛ wɔwɔ PTEN awosu mu nkwaadɔm mu nsakrae no di akwankyerɛ a wɔde hwehwɛ Cowden yare no mu no akyi. Nea ɛka eyi ho ne kokoram ahorow yi a wɔbɛhwehwɛ mu:

• Nufu mu kokoram
• Awotwaa mu kokoram
• Thyroid kokoram
• Asaabo mu kokoram

Awosu mu afotu boa nnipa a wɔwɔ BRRS no kɛse. Ɛsɛ sɛ wɔyɛ abusua mufo a wɔnkyerɛ BRRS ho sɛnkyerɛnne nso hwɛ PTEN awosu mu abɔde mu nkwaadɔm no hwɛ sɛ ebia ɛsɛ sɛ wɔn nso di kokoram nhwehwɛmu ho akwankyerɛ ahorow akyi anaa.

Akwankyerɛ a ɛfa nhwɛsoɔ a ɛfa `(BRRS)` ho

Akwankyerɛ pɔtee bi wɔ hɔ a wɔde hwɛ kokoram biara so, a bere a ɛsɛ sɛ wofi ase yɛ nhwehwɛmu ka ho. Ɛnyɛ kokoram nyinaa na wofi ase sɔ hwɛ bere koro mu bere a wɔahu - egyina mfe a onipa no adi bere a wɔahu no so.

Wɔ nnipa a wonnii mfe 18 fam no , nnuruyɛfo betumi akamfo nea edidi so yi akyerɛ:

• Afe biara thyroid ultrasound fi mfe 7.
• Afe afe nipadua mu nhwehwɛmu a wɔde ka honam ani nhwehwɛmu ho .
• Ntini mu nkɔso ho nhwehwɛmu bi .
• Ɛsɛ sɛ wɔyɛ afe afe hemoglobin nhwehwɛmu na ama wɔahu dwensɔtwaa mu hamartomas ntɛm.

So wobetumi asiw BRRS ano?

Dabi, wontumi nsiw BRRS ano. Ɛyɛ awosu mu tebea a awosu mu nkwaadɔm mu nsakrae na ɛde ba. Nnipa a wɔwɔ BRRS no betumi anya awosu mu afotu. Eyi betumi aboa wɔn ma wɔasisi gyinae a ɛfata wɔ akwahosan ho nhyehyɛe ne mma a wɔbɛwo ho.

Sɛ mewɔ `(BRRS)` a, dɛn na metumi ahwɛ kwan?

Nkɔmhyɛ a obi a ɔwɔ BRRS kyerɛ no gu ahorow kɛse wɔ onipa biara mu. Ebia nnipa binom benya sɛnkyerɛnne ne nsɛnkyerɛnne kakraa bi - ebinom nso betumi anya yare no ho sɛnkyerɛnne kakraa bi anaasɛ wonni bi koraa. Nnipa a wɔwɔ BRRS no akwan pii wɔ hɔ a wɔbɛfa so ahwɛ so a ɛbɛtumi aboa ama wɔn asetena nyinaa atu mpɔn. Nhwɛso ahorow bi ne nipadua mu ayaresa ne kasa mu ayaresa .

Sɛnea yɛadi kan aka no, ɛsɛ sɛ wɔyɛ nnipa a wɔwɔ ``(BRRS)`` no mu nhwehwɛmu daa sɛ ebia wɔwɔ kokoram ahorow anaa. Bisa wo duruyɛfo bere a ɛsɛ sɛ wufi ase yɛ nhwehwɛmu ne mpɛn dodow a ɛsɛ sɛ woyɛ no.

Bannayan-Riley-Ruvalcaba Syndrome ne Nkwa Ntraso

Nhwehwɛmufo nnya nhuu nnipa a wɔwɔ BRRS nkwa nna a sɛ wɔkyekyem pɛpɛɛpɛ. Nokwarem no, adanse biara nni hɔ a ɛkyerɛ sɛ nnipa a wɔwɔ BRRS no nkwa nna yɛ tiaa. Nanso, nnipa a wɔwɔ BRRS no wɔ asiane kɛse mu sɛ wobenya kokoram ahorow bi wɔ wɔn mmofraase. Esiane eyi nti, ebia nnipa binom nkwa nna yɛ tiaa esiane kokoram nti.

Bere bɛn na ɛsɛ sɛ mekɔ me duruyɛfo nkyɛn?

Sɛ w’abusua mufoɔ a wɔbɛn wo (sɛ nhwɛsoɔ no, nuanom, awofoɔ, anaa mma) wɔ `(BRRS)` a, ɛsɛ sɛ wobisa wo duruyɛfoɔ `(PTEN)` awosu mu nhwehwɛmu ho asɛm. `(PTEN)` nhwehwɛmu betumi ahu sɛ wowɔ `(PTEN)` awosu mu nkwaadɔm mu nsakrae ne sɛ ebia ɛsɛ sɛ wɔhwehwɛ wo mu daa sɛ ebia wowɔ kokoram ahorow bi anaa.

Sɛ wohu sɛ wo anaa wo ba no anya BRRS a, wo duruyɛfo ne wo bɛyɛ adwuma de adi wo sɛnkyerɛnne ahorow ho dwuma na ama w’asetra atu mpɔn. Wɔbɛkyerɛ wo mpɛn dodow a ɛsɛ sɛ woyɛ kokoram ho nhwehwɛmu nso.

Nsɛm bɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wo anaa wo dɔfo bi hu sɛ wowɔ BRRS a, nsɛm bi a wubetumi abisa wo duruyɛfo ni:

• So `(PTEN)` awosu mu nkwaadɔm mu nsakrae bi wɔ me anaa me ba mu a wotumi hu?
• So sɛnkyerɛnne ne nsɛnkyerɛnne bi a ɛda adi pefee wɔ hɔ?
• So ɛsɛ sɛ meyɛ awosu mu nhwehwɛmu?
• So ɛsɛ sɛ wɔyɛ m’abusuafo a wɔbɛn me paa no nso awosu mu nhwehwɛmu?
• Ɔkwan bɛn so na eyi ka abusua nhyehyɛe?
• Ayaresa anaa ayaresa a wobetumi apaw bɛn na wokamfo kyerɛ?
• Mpɛn ahe na ɛsɛ sɛ meyɛ nhwehwɛmu de hwehwɛ kokoram?

Nkrasɛm a Wɔde Kɔ Fie

Bannayan-Riley-Ruvalcaba syndrome (BRRS) yɛ awosu mu tebea a ɛntaa nsi a ɛnam nsakrae a ɛba wo PTEN awosu mu abɔde mu so. Nsɛnkyerɛnne no betumi ayɛ soronko kɛse, na ebetumi afi nea emu nyɛ den so kosi nea emu yɛ den so. Ayaresa pɔtee biara nni hɔ a wɔde sa BRRS, nanso ayaresa titiriw ne sɛnkyerɛnne ahorow a wɔde di dwuma. Ɛho hia sɛ nnipa a wɔwɔ BRRS no hwehwɛ kokoram ahorow bi mu daa, a nufu, awotwaa, thyroid, ne asaabo mu kokoram ka ho.

Sɛ wo ne ɔfotufo anaa asetra mu nsɛm ho dwumayɛni bɛkasa a, ebetumi aboa kɛse wɔ nkate horow a ɛba bere a wɔahu yare a ɛte sɛɛ no ​​ho dwuma mu. Wubetumi nso akɔka mpɔtam hɔ anaa intanɛt so mmoa kuw bi ho akɔhyia afoforo a wɔafa osuahu a ɛte saa ara mu. Mma ɛnhaw wo, ɛnyɛ wo nko ara. Sɛ wonya aduruyɛ mu afotu ne mmoa a ɛfata a, wubetumi adi tebea yi ho dwuma na woabɔ bra pa.

` Bannayan-Riley-Ruvalcaba Syndrome, BRRS, PTEN gene, hamartoma, awosu mu yare, kokoram ho asiane, macrocephaly, nkɔso a ɛkyɛ, awosu mu yare, kokoram ho asiane, nkɔso a ɛkyɛ