Nea ɛsɛ sɛ wuhu fa Rothmund-Thomson Syndrome (RTS) ho!

So wo ba ketewa no honam ani hwɛbea anaa ne ti nhwi a ɛbɛtɔ no haw wo? Ɛtɔ da bi a, tebea bi a ɛntaa nsi betumi de saa sɛnkyerɛnne ahorow yi aba. Tebea a ɛte saa no biako ne Rothmund-Thomson Syndrome , anaa (RTS) a wɔatwa no tiaa. Ebia edin no bɛyɛ te sɛ nea ɛyɛ den kakra, nanso momma yɛmma ɛnyɛ mmerɛw na ɛnyɛ den sɛ yɛbɛte ase.

Dɛn ne Rothmund-Thompson Yare (RTS)?

Sɛ yɛbɛka no tiawa a, Rothmund-Thompson yare no yɛ tebea a wɔde wo nkokoaa binom. Ɛyɛ awosu mu tebea. Ɛne sɛ, nsakrae a ɛba yɛn nipadua mu awosu mu nneɛma nketenkete no biako mu na ɛde ba. Saa tebea yi betumi aka abofra no nipadua afã horow pii. Ɛka honam ani, nhwi, sẽ, nnompe, aniwa, ne awo titiriw. Ɛtɔ da bi a, mmofra yi nya nsakrae wɔ nneɛma te sɛ wɔn nsa, wɔn nan, ne wɔn nsateaa kɛse ne wɔn nsusuwii mu.

Hena na onya saa tebea yi? Ɛtaa ba dɛn?

Rothmund-Thompson yare no yɛ awosu mu yare a wonya fi awo mu . Eyi kyerɛ sɛ sɛ awofo baanu no nyinaa wɔ awosu mu nkwaadɔm pɔtee bi mu nsakrae a, ɛda adi sɛ wɔn ba no benya yare no.

Nanso mma ɛnhaw wo, eyi yɛ tebea a ɛntaa nsi koraa . Bɛyɛ 300 pɛ na wɔabɔ amanneɛ wɔ wiase nyinaa. Enti ɛnyɛ biribi a ɛto obiara.

So edin foforo bi wɔ hɔ a wɔde frɛ eyi? Yiw, ɛtɔ da bi a wɔsan frɛ no `(poikiloderma congenitale)`.

Ɔkwan bɛn so na Rothmund-Thompson yare no bɛka me ba no?

Saa tebea yi (RTS) betumi ama nsakrae bi aba ɔkwan a abofra nyin na onyin mu. Momma yɛnhwɛ nea ɛkɔ so titiriw:

• Honam ani akisikuru: Ebia akisikuru kɔkɔɔ bi bɛda adi, titiriw wɔ afono so.
• Nwi a ɛyera anaasɛ ɛyɛ teateaa: Ebia nhwi bɛyera wɔ ti no so, na aniwa ne nwi nso ayɛ mmerɛw.
• Aniwa a ɛsakra: Aniwa mu haw ahorow bi betumi aba.
• Nse a ɛkyɛ: Ebia sẽ bɛba akyiri sen mmofra afoforo.
• Anim a ɛwɔ anim: Ebia wubehu nneɛma te sɛ hwene ketewaa bi ne ase hwene a ɛpuepue.

Sɛnea Rothmund-Thompson Syndrome Ka Nipadua Nhyehyɛe

Saa awosu mu tebea yi betumi aka nnipa wɔ akwan horow pii so. Eyi kyerɛ sɛ ɛnyɛ obiara na obenya yare no ho sɛnkyerɛnne koro. Momma yɛnhwɛ sɛnea ɛka nipadua nhyehyɛe ahorow.

Wedeɛ

Nkokoaa a wɔwɔ saa tebea yi taa nya akisikuru wɔ wɔn anim bere a wɔadi asram 3 kosi 6. Akyiri yi saa akisikuru yi betumi atrɛw akɔ nsa, anan, ne asen mu. Wɔsan frɛ saa akisikuru yi ``poikiloderma.'' Ɛyɛ sɛnkyerɛnne ahorow te sɛ honam ani kɔla a ɛsakra, mogya ntini a wotumi hu, ne honam ani a ɛyɛ teateaa a wɔaka abom.

Nea ɛho hia sen biara no, mmofra yi wɔ asiane kɛse mu sɛ wobenya honam ani kokoram (`Basal cell carcinoma` ne `Squamous cell carcinoma`). Enti, owia ho ahobammɔ ne honam ani nhwehwɛmu a wɔyɛ no daa ho hia yiye.

Nwi

Ebia mmofra yi ti nhwi yɛ mmerɛw koraa. Ebia wɔn aniwa nhwi anaa wɔn anim nhwi nso sua koraa anaasɛ wonni bi koraa.

Ɛse

Mmofra a wɔwɔ Rothmund-Thompson yare no betumi ahwere wɔn sẽ, wɔn sẽ anyɛ yiye, anaasɛ wɔn sẽ bɛba akyiri koraa. Wɔn nso wɔ asiane kɛse mu sɛ wobenya ntini mu akisikuru. Enti, ɛyɛ papa sɛ wobɛma wo sẽ ho oduruyɛfo ahwɛ wo sẽ daa.

Ani

Mmofra a wɔwɔ awosu mu tebea yi wɔ asiane kɛse mu sɛ wobenya aniwa a ɛyɛ mmerɛw, mpɛn pii no wɔadi fi mfe 3 kosi 7. Aniwa a ɛyɛ mmerɛw yɛ aniwa a ɛwɔ aniwa no mu a ɛyɛ mununkum. Eyi betumi ama obi nhu ade yiye.

Nnompe

Ebia nsakrae bi nso bɛba nnompe no mu. Ebia nnompe no sua sen sɛnea ɛte daa, ebetumi afrafra, anaasɛ nnompe bi ayera. Afei nso, nnompe no yɛ teateaa na ebetumi abubu ntɛm (abubu).

Nnuan a wɔyam (Gastrointestinal) .

Ebia nkokoaa a wɔwɔ RTS no benya aduanma ho haw. Ɔfe ne akisikuru nso abu so.

Mogya nhyehyɛe (Hematologic) .

Mmofra yi taa nya tebea horow te sɛ mogya a ɛtɔ kɔ nipadua mu ne mogya mu nkwammoaa fitaa a ɛba fam. Mogya mu nkwammoaa fitaa yɛ nkwammoaa bi a ɛwɔ yɛn nipadua mu a ɛko tia nyarewa.

Onyini

Ebia wɔbɛwo saa nkokoaa yi a wɔn mu duru sua wɔ awo mu na wɔn tenten yɛ tiaa. Ɛda adi sɛ nnipa pii a wɔwɔ Rothmund-Thompson yare no bɛkɔ so ayɛ tiaa asen onipa a ɔte saa wɔ wɔn nkwa nna nyinaa mu.

Awo a wɔde ma

Wɔ mmea fam no, brayɛ a ɛnyɛ ne kwan so betumi aba.

Dɛn ne nsɛnnennen a ɛwɔ Rothmund-Thompson yare no mu?

Eyi yɛ biribi a ɛsɛ sɛ ɛhaw yɛn kɛse. Mmofra a wɔwɔ (RTS) no wɔ asiane kɛse mu sɛ wobenya kokoram ahorow bi. Wɔn titiriw ne:

• Nnompe mu kokoram (`Osteosarcoma`) .
• Lymphatic leukemia, mogya mu kokoram bi
• Lymphoma (kokoram a ɛba nipadua no mu) .
• Honam ani kokoram (`Basal cell carcinoma` ne `Squamous cell carcinoma`) .

Enti, ɛho hia paa sɛ wɔma mmofra yi kɔ aduruyɛ mu nhwehwɛmu daa na wɔma wɔn ani da hɔ wɔ kokoram ho.

Dɛn na ɛde Rothmund-Thompson yare no ba?

Rothmund-Thompson syndrome no fi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm `ANAPC1` anaa `RECQL4` mu.Nnipa binom a wɔwɔ RTS nya saa nkwaadɔm mu nsakrae yi fi wɔn maame ne wɔn papa nyinaa hɔ. Sɛ nhwɛso no, sɛ wo ne wo hokafo nyinaa wɔ awosu mu nkwaadɔm mu nsakrae yi a, wo ba no wɔ hokwan 1 biara mu 4 sɛ obenya RTS.

Nanso, ɛnyɛ obiara a ɔwɔ RTS na ɔwɔ awosu mu nkwaadɔm mu nsakrae pɔtee yi. Nhwehwɛmufo da so ara reyɛ nhwehwɛmu wɔ nea enti a nnipa binom nya RTS a wonni mutation biara wɔ `ANAPC1` anaa `RECQL4` awosu mu nkwaadɔm mu.

Dɛn ne Rothmund-Thompson yare no ho sɛnkyerɛnne?

Rothmund-Thompson yare no ho sɛnkyerɛnne taa da adi wɔ nkwa afe a edi kan no mu. Nanso, ɛsono sɛnea yare no ho sɛnkyerɛnne wɔ onipa biara mu. Nsɛnkyerɛnne a ɛtaa ba no bi ne:

• Aniwa a ɛyɛ mmerɛw
• Nsakrae a ɛba anim tebea mu (sɛ nhwɛso no, hwene ketewaa, anom ase a ɛpuepue) .
• Aduan a wɔde ma ho haw, titiriw ɔfe anaa atiridiinini bere a wanom nufusu anaa aduannuru a wɔde ma awie no
• Abasa, nsa, anaa anan nnompe a asɛe
• Nse nketewa, a ɛnteɛ, anaasɛ ɛyera
• Nwi a ɛtɔ anaasɛ nwi a ɛso tew (a aniwa nhwi ne aniwa a ɛyɛ mmerɛw ka ho) .
• Nneɛma a ɛyɛ den, a ɛyɛ den wɔ honam ani (keratotic lesions - te sɛ atoko) .
• Wora mu akisikuru (poikiloderma) ne ebia akisikuru
• Honam ani kɔla a ɛsakra (mmeae a ɛma honam ani kɔla sesa) .

Ɔkwan bɛn so na nnuruyɛfo hu Rothmund-Thompson yare no?

Ebia w’ankasa wubehu saa sɛnkyerɛnne ahorow yi wɔ wo ba no mu. Anaasɛ, ebia wo duruyɛfo behu saa sɛnkyerɛnne ahorow yi bere a wokɔsra akokoaa yiye daa no. Sɛ wo duruyɛfo susuw sɛ RTS a, wɔbɛhyɛ sɛ wɔnyɛ nhwehwɛmu pii de si so dua sɛ wɔahu sɛ ɔwɔ bi.

Nhwehwɛmu bɛn na wɔde hu (RTS)?

Ebia oduruyɛfo no bɛkamfo nhwehwɛmu ahorow te sɛ:

• Skin biopsy: Sɛ wo ba no honam ani akisikuru a wɔfrɛ no poikiloderma a, oduruyɛfo no betumi afa honam ani fã ketewaa bi na ɔde akɔma wɔakɔyɛ nhwehwɛmu. Nnuruyɛfo atitiriw (yare ho animdefo) bɛhwehwɛ saa nhwɛsode yi mu wɔ afiri a wɔde hwɛ nneɛma nketenkete mu ahwɛ sɛ nsakrae bi aba honam ani nkwammoaa no mu anaa.
• Awosu mu nhwehwɛmu: Eyi yɛ mogya mu nhwehwɛmu. Etumi hu sɛ ebia mutation bi wɔ awosu mu nkwaadɔm `ANAPC1` anaa `RECQL4` mu. Eyi betumi asi so dua (RTS). Nanso kae sɛ ɛnyɛ akokoaa biara a ɔwɔ (RTS) na ɔwɔ awosu mu nsakrae yi.

Ɔkwan bɛn so na wɔsa Rothmund-Thompson yare no?

Nea ɛyɛ awerɛhow no, nnuruyɛfo ntumi nsa Rothmund-Thompson yare no koraa. Nanso wobetumi asa yare no ho sɛnkyerɛnne ahorow no. (RTS) ayaresa gyina wo ba no yare no ho sɛnkyerɛnne so. Wo duruyɛfo ne wo bɛkasa afa ayaresa ahorow a ebetumi aboa ma wo ba no anya apɔwmuden ho.

Nnuruyɛfo betumi agyina wo ba no yare no ho sɛnkyerɛnne pɔtee ne ne mfe a wadi so akamfo ayaresa ahorow te sɛ:

• Cataract oprehyɛn a wɔde ma aniwa hu ade yiye.
• Sɛ nnompe a ɛnyɛ ne kwan so wɔ hɔ a, wobetumi de nnompe oprehyɛn titiriw (`Nnompe oprehyɛn`) ayɛ ho adwuma .
• Ahobammɔ a wonya fi owia hann a ano yɛ den ho(a wode aduru a ɛbɔ wo ho ban fi owia ho di dwuma, kyɛw a wode bɛhyɛ) ne wo honam ani hwɛbea a wobɛhwɛ daa .
• Mpɛn pii a wɔbɛkɔ akɔhwɛ sẽ na sɛ ɛho hia a, wɔyɛ sẽ a wɔde sa yare.
• Kokoram a wɔhwɛ: Eyi kyerɛ sɛ wɔbɛhwɛ daa sɛ ebia kokoram ho sɛnkyerɛnne bi wɔ hɔ anaa.

So awosu mu ayaresa bi wɔ hɔ a wɔde sa eyi?

Mprempren, wonni awosu mu aduru biara a wɔapene so a wɔde sa Rothmund-Thompson yare no, nanso nhwehwɛmufo kɔ so hwehwɛ awosu mu nsakrae a ɛbata RTS ho no mu.

So metumi asiw me ba no kwan sɛ onnya nkɔso (RTS)?

Nea ɛyɛ awerɛhow no, ɔkwan biara nni hɔ a wɔbɛfa so asiw Rothmund-Thompson yare no ano. Ɛyɛ awosu mu tebea. Ebia nnipa binom benya bi esiane abusua abakɔsɛm nti. Ɛtɔ mmere bi nso a ebetumi aba esiane nneɛma bi a wontumi nkyerɛkyerɛ mu nti.

Mɛyɛ dɛn ahu sɛ me ba no wɔ asiane mu sɛ obenya (RTS) anaa?

Sɛ obi a ɔwɔ w’abusua mu (anaa wo hokafo abusua mu) wɔ Rothmund-Thompson yare a, ɛho hia yiye sɛ wunya awosu mu afotu. Eyi bɛboa wo ma woasua pii afa asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ RTS no ho. Wo ne wo hokafo nyinaa betumi ayɛ mogya mu nhwehwɛmu ahwɛ sɛ ebia moyɛ awosu mu nkwaadɔm mu nsakrae yi kurafo anaa.

Fa no sɛ mo baanu nyinaa wɔ saa awosu mu nkwaadɔm mu nsakrae yi. Eyi nkyerɛ sɛ akyinnye biara nni ho sɛ wo ba no benya RTS. Wo ba no betumi ayɛ obi a ɔwɔ RTS (a ɛkyerɛ sɛ obetumi de awosu mu abɔde no ama ne mma a onnya sɛnkyerɛnne biara), nanso ebetumi aba nso sɛ ɔrennya yare no ho sɛnkyerɛnne.

Sɛ me ba no anya (RTS) a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Nnuruyɛfo bɛhwɛ wo ba no yiye paa (`surveillance`). Esiane sɛ mmofra a wɔwɔ (RTS) no wɔ asiane kɛse mu sɛ wobenya kokoram ahorow bi nti, oduruyɛfo no bɛhwɛ daa kokoram ahorow yi ho sɛnkyerɛnne bi anaa.

Ebia wo ba behia mmoa afi nnuruyɛfo atitiriw hɔ na ama watumi adi ne RTS sɛnkyerɛnne ahorow bi ho dwuma. Wɔ wɔn mmofra oduruyɛfo a ɔtaa yɛ no akyi no, ebia wɔbɛkɔ aniwa ho oduruyɛfo, honam ani yare ho oduruyɛfo, nsensan ho oduruyɛfo, nnompe ho oduruyɛfo, awosu ho ɔbenfo, ne mogya ho oduruyɛfo/kokoram ho oduruyɛfo nkyɛn .

Dɛn ne me ba a ɔwɔ Rothmund-Thompson yare no nkwa nna?

Mmofra dodow no ara a wɔwɔ Rothmund-Thompson yare no wɔ daakye pa. Wɔn nyansa nso yɛ nea ɛfata. Nnipa a wɔwɔ (RTS) a wonnya kokoram no tra nkwa nna a ɛfata mu.

Ɔkwan bɛn so na mehwɛ me ba a ɔwɔ Rothmund-Thompson yare no?

Bere nyinaa wo ne wo duruyɛfo nkasa fa wo ba no yare no ho sɛnkyerɛnne ho. Ebia oduruyɛfo no bɛkamfo akyerɛ sɛ hwehwɛ mmoa fi nnuruyɛfo a wɔyɛ adwumaden nkyɛn.

Sɛ wuhu sɛ nsensanee anaa akuru foforo bi wɔ wo ba no honam ani a, ka kyerɛ wo duruyɛfo ntɛm ara, titiriw sɛ ɛsakra kɔla anaa sɛnea ɛte a. Afei nso, sɛ wuhu sɛ wo ba no nsa anaa ne nan ho ahonhon anaa akuru bi, anaasɛ sɛ wo ba no nwiinwii sɛ ɔte ɛyaw a, ka kyerɛ wo duruyɛfo.

Nkrasɛm a Wɔde Kɔ Fie

Rothmund-Thompson yare no yɛ awosu mu yare a wɔde wo nkokoaa binom. Ɛma honam ani yɛ kurukuruwa, nhwi, nnompe, ne sẽ sesa. Ɛma asiane a ɛwɔ hɔ sɛ obi benya kokoram no nso yɛ kɛse. (RTS) no ntumi nsa, nanso wobetumi asa yare no ho sɛnkyerɛnne. Wo ne wo duruyɛfo nkasa mfa akwan a wobɛfa so aboa wo ba no ma watra ase yiye ho. Mma ɛnhaw wo, wobetumi adi tebea yi ho dwuma denam aduruyɛ mu afotu ne ɔhwɛ a ɛfata so.

` Rothmund-Thomson Syndrome, RTS, poikiloderma, awosu mu yare, honam ani akisikuru, ti nhwi a ɛtɔ, kokoram ho asiane