Dɛn ne McCune-Albright Yare no? Momma yɛnka ho asɛm!

Yɛn nyinaa dwen yɛn mma akwahosan ho, ɛnte saa? Ɛtɔ da bi a, ɛyɛ ade a ɛfata sɛ yɛbɛte ehu nka kakra bere a yehu nsakrae nketenkete bi wɔ yɛn mma nipadua mu a yɛnhwɛ kwan no. Ebia ɛyɛ baabi a ɛyɛ bruu wɔ honam ani, anaasɛ nsakrae kakra a ɛba nnompe nyin mu, anaasɛ biribi te sɛ abofra a ɔhyɛn mmerantebere ne mmabaabere mu ntɛm sen sɛnea na wɔhwɛ kwan mpo. Ɛnyɛ bere nyinaa na eyinom yɛ aniberesɛm, nanso ɛtɔ mmere bi a ebetumi ayɛ awosu mu tebea bi a wɔntaa nhu ho sɛnkyerɛnne. Awosu mu tebea biako a ɛntaa nsi, nanso ɛfata sɛ yehu ho asɛm, a yɛbɛka ho asɛm nnɛ ne McCune-Albright Syndrome.

Dɛn ne McCune-Albright Yare no?

Sɛ yɛbɛka no tiawa a, McCune-Albright yare no yɛ awosu mu yare. Ɛka abofra nnompe, ne honam ani, ne ntini a ɛma mogya tu, anaa ntini a ɛma nkwaboaa no titiriw . Saa tebea yi betumi de nneɛma te sɛ nnompe mu ntini mu akuru (a yɛfrɛ no ``fibrous dysplasia'') aba. Ɛsan nso ma nsensanee soronko (pigmentation) ba honam ani, na ntini ahorow bi a ɛhwɛ onyin so no yɛ adwuma boro so.

Ma ɛntra w’adwenem sɛ ebia mmofra binom rennya saa tebea yi so nkɛntɛnso kɛse saa, na yare no ho sɛnkyerɛnne nyɛ den koraa. Nanso, wɔ afoforo fam no, ebetumi ayɛ nea emu yɛ den kɛse, na ɛtɔ mmere bi mpo a ɛde wɔn nkwa to asiane mu. Enti ɛho hia sɛ wohu eyi.

Hena na tebea yi ka no kɛse?

McCune-Albright yare no fi awosu mu nsakrae foforo mu . Eyi kyerɛ sɛ ɛnyɛ biribi a wonya fi awofo hɔ ma mmofra. Yɛrentumi nkyerɛ bere ne ɔkwan a awosu mu nsakrae yi bɛba. Mpɛn pii no, saa awosu mu nsakrae yi ba wɔ nyinsɛn/awo akyi, bere a wonyinsɛn abofra wɔ ɛna no awotwaa mu no, esiane mfomso a ɛba wɔ nkwammoaa mu mpaapaemu ne ne nsɛso mu nti.

Kae eyi: Ɛnyɛ biribiara a awofo no yɛe anaa wɔanyɛ bere a na wɔyem no na ɛde saa awosu mu nsakrae yi ba. Enti mma ɛnhaw wo wɔ ho.

Saa tebea yi abu so dɛn?

Nokwarem no, McCune-Albright yare no yɛ tebea a ɛntaa nsi koraa. Wɔ wiase nyinaa no, wobu akontaa sɛ bɛyɛ awo mpem ɔha anaa ɔpepem biako biara mu biako na ɛba saa tebea yi mu . Enti, ɛnyɛ biribi a wɔtaa hu ankasa.

Ɔkwan bɛn so na McCune-Albright Syndrome ka abofra nipadua?

Saa tebea yi betumi aka abofra nipadua wɔ akwan horow so. Titiriw no, ebetumi aka nnompe nyin ne endocrine system (hormonal system) no dwumadi, na ebetumi aka abofra tenten ne ne mu duru .

Afei nso, ebia wobɛhunu nsensaneeɛ a ɛda nsow a ɛyɛ bruu wɔ wo ba no honam ani (a wɔfrɛ no ``café-au-lait nsensanee''). Ade foforo a ɛho hia ne sɛ mmofra binomMmabunbere ho sɛnkyerɛnne a wɔda no adi wɔ ne mmofraase pɛɛ.

Sɛ wote nka sɛ ɛyɛ den ma wo ba sɛ obenyin na wanyin sɛnea ɛsɛ esiane saa sɛnkyerɛnne ahorow yi nti a, ɛho hia yiye sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara. Oduruyɛfo no de ayaresa nhyehyɛe a ɛfa wo ba no ho bɛma wo na ɛbɛboa ma woadi yare no ho sɛnkyerɛnne ahorow no so.

Dɛn ne McCune-Albright Syndrome ho sɛnkyerɛnne ahorow?

Wohu tebea yi ho sɛnkyerɛnne titiriw wɔ nnompe, honam ani, ne endocrine system (hormonal system) mu . Nanso, saa sɛnkyerɛnne ahorow yi nna adi wɔ ɔkwan koro so anaasɛ emu yɛ den koro wɔ abofra biara mu. Ebetumi ayɛ soronko wɔ abofra biara mu.

Nnompe mu sɛnkyerɛnne ahorow

Ade titiriw a ɛtaa ba a ɛfa nnompe ho wɔ saa tebea yi mu ne tebea bi a wɔfrɛ no ``fibrous dysplasia.'' Sɛ yɛbɛka no tiawa a, eyi ne bere a akuru ntini nyin wɔ nnompe no mu sen sɛ nnompe mu ntini a ɛte apɔw nyin. Enti, bere a abofra no nyin no, mmeae a saa nhama yi wɔ no yɛ mmerɛw. Eyi betumi ama nnompe no abubu, anaasɛ nnompe no betumi anyin a ɛnkɔ so daa na asɛe . Ɛgyina nnompe dodow a ɛka no so no, saa ``fibrous dysplasia'' tebea yi betumi ayɛ mmerɛw wɔ nnipa binom mu na emu yɛ den wɔ afoforo mu.

Ade foforo ne sɛ, ɛntaa nsi koraa, a ɛkyerɛ sɛ nnipa a wɔwɔ saa tebea yi mu nnu 1%, saa ``fibrous dysplasia`` yi betumi de kokoram nnompe mu akuru/akisikuru aba. Ɛntaa nsi koraa, nanso eye sɛ wobɛhwɛ so.

Nsɛnkyerɛnne afoforo a ɛfa nnompe ho ne:

• Anim nnompe a ɛkɔ so wɔ ɔkwan a ɛnsɛ so.
• Nnompe mu yaw ne nea ɛnyɛ dɛ.
• Ɛyɛ den sɛ wobɛnantew anaasɛ wobɛkeka wo ho (Loss of mobility).
• Nyarewa a ɛma nnompe yɛ mmerɛw, te sɛ `Ricets` anaa `osteomalacia`.
• Scoliosis a ɛma obi ho kyere no.
• Ɔyɛ tiaa.
• Nnompe a ɛwɔ nan no mu a ɛnkɔ so pɛpɛɛpɛ (eyi betumi ama obi anantew a ne ho ayɛ mmerɛw).

Honam ani sɛnkyerɛnne ahorow

Nkokoaa binom a wɔwo wɔn a wɔwɔ McCune-Albright yare no honam ani kɔla a ɛyɛ soronko wɔ wɔn honam ani mmeae afoforo ho. Saa nsensanee yi betumi afi bruu a ɛyɛ hann so kosi bruu tuntum so . Wɔn nso wɔ ahye a ɛyɛ nsensanee. Wɔfrɛ eyinom sɛ café-au-lait mmeae. Ebia wobepue wɔ nipadua no fã biako pɛ. Bere a akokoaa no nyin no, saa nsensanee yi betumi ada adi kɛse na ebetumi adɔɔso.

Endocrine nhyehyɛe ho sɛnkyerɛnne ahorow

Saa tebea yi betumi aka abofra endocrine system, ntini ahorow a ɛma hormone ahorow no. Ne saa nti, mmofra tumi da mmerantebere ne mmabaabere mu sɛnkyerɛnne adi wɔ wɔn mmofraase pɛɛ . Mmabaa titiriw betumi afi ase akɔ brayɛ bere a wɔadi mfe abien pɛ.Eyi ba efisɛ akisikuru a ɛwɔ wɔn mmadwoa mu no ma estrogen a ɛboro so, ɔbea nna mu hormone bi. Mmarimaa nso betumi anya mmerantebere ne mmabaabere ho sɛnkyerɛnne a edi kan yi.

Nnipa a wɔwɔ McCune-Albright yare no mu bɛyɛ 50% wɔ thyroid ntini a ayɛ kɛse . Sɛ thyroid gland no yɛ kɛse a, ɛma thyroid hormone dɔɔso dodo. Wɔfrɛ saa tebea yi hyperthyroidism. Eyi betumi de sɛnkyerɛnne ahorow te sɛ koma a ɛbɔ ntɛmntɛm, fifiri a ɛboro so, mogya mmoroso, ne mu duru a ɛso tew aba .

Nsɛnkyerɛnne afoforo a ɛfa endocrine nhyehyɛe ho ne:

• Nnuru a ɛma nipadua no nyin dodo a pituitary gland no yɛ. Eyi betumi ama nipadua no akwaa ayɛ kɛse, anim ayɛ kurukuruwa, ne/anaasɛ tebea horow a ɛte sɛ ntini mu yare (acromegaly).
• Adrenal ntini no ma adwennwen hormone cortisol no dɔɔso dodo. Eyi betumi ama obi anya tebea bi a wɔfrɛ no Cushing’s syndrome, a nea ɛda nsow ne kɛseyɛ mmoroso ne onyin a ɛyɛ mmerɛw.

Dɛn nti na ɛte saa?

McCune-Albright yare no fi nkwaadɔm mu nsakrae a ɛba GNAS1 awosu mu abɔde mu. GNAS1 awosu mu abɔde no yɛ protein ahorow a ɛhwɛ hormone dwumadi so. Enti, sɛ nkwaadɔm mu nsakrae bi ba saa awosu mu abɔde yi mu a, enzyme bi a wɔfrɛ no adenylate cyclase (a ɛno nso yɛ protein) fi ase yɛ hormone pii dodo. Ɛno na ɛde saa sɛnkyerɛnne ahorow yi ba.

Nea ɛho hia ne sɛ saa awosu mu nsakrae yi ba bere a wɔanyinsɛn abofra no wɔ ɛna no awotwaa mu akyi (somatic mutation). Ɛne sɛ, eyi nyɛ tebea a wonya fi awofo hɔ ma abofra no. Eyi mfi ɛna no anaa agya no mfomso biara, anaa biribi a wɔyɛe anaa wɔanyɛ bere a na wɔyem no. Afei nso, nsɛm biara nni hɔ a wɔada no adi sɛ obi a ɔwɔ McCune-Albright yare no awo abofra a ɔwɔ tebea koro no ara. Wɔnnya nhuu nea enti pɔtee a saa ``somatic mutation`` yi bae. Nhwehwɛmu kyerɛ sɛ eyinom yɛ nsɛm a ɛba kwa, a ɛba ara kwa.

Ɔkwan bɛn so na wohu yare yi?

Wɔtaa hu McCune-Albright yare no wɔ mmofraase. Oduruyɛfo bɛhwɛ abofra no na wahwehwɛ endocrine system a ɛnteɛ, honam ani akuru te sɛ ``café-au-lait spots'' ne ``fibrous dysplasia''. Mpɛn pii no, wohu yare no bere a wɔahyɛ sɛnkyerɛnne ahorow a ɛkyerɛ sɛ obi ayɛ mmerantebere ne mmabaabere ntɛm anaa nnompe nyin a ɛnteɛ no nsow akyi.

Sɔhwɛ ahorow bɛn na wɔyɛ ma eyi?

Nhwehwɛmu a wɔyɛ de hu yare yi bi ne:

• Mogya mu nhwehwɛmu: Hwɛ sɛnea endocrine system (hormone system) no yɛ adwuma.
• Awosu mu nhwehwɛmu:Hu awosu mu nsakrae a ɛde wo sɛnkyerɛnne ahorow no reba. Mpɛn pii no, eyi hwehwɛ sɛ wɔfa honam ani anaa ntini foforo ketewaa bi (biopsy) na wɔsɔ hwɛ.
• Mfoniniyɛ mu nhwehwɛmu: Wɔyɛ nhwehwɛmu te sɛ X-ray de hwɛ sɛnea nnompe nyin.

Ɔkwan bɛn so na wɔsa?

Ɛsono sɛnea wɔsa McCune-Albright yare no yare no. Aduru biara nni hɔ a wɔde bɛsa tebea no. Botae titiriw a ɛwɔ ayaresa mu ne sɛ ɛbɛtew yare no ho sɛnkyerɛnne so na wɔadi so.

Wobetumi ayɛ nea edidi so yi sɛ ayaresa:

• Nnuru a wɔde sa nnompe nyin mu ɔhaw ahorow te sɛ bisphosphonates no brɛ asiane a ɛwɔ hɔ sɛ nnompe mu abubu no ase.
• Nnuru a wɔde siw mmerantebere ne mmabaabere ntɛm ano, sɛ nhwɛso no, nnuru a esiw aromatase ano.
• Nnuru a wɔde sa tebea `hyperthyroidism`, sɛ nhwɛso no `antithyroids`.
• Apɔw-mu-teɛteɛ ne adwuma mu ayaresa wɔ hɔ ma ɔhaw ahorow a ɛfa akwantu ho.
• Oprehyɛn a wɔyɛ ma nnompe nyin ho haw ahorow, titiriw fibrous dysplasia.

So metumi atew asiane a ɛwɔ hɔ sɛ me ba benya saa tebea yi so?

Sɛnea yɛadi kan aka ho asɛm no, awosu mu nsakrae foforo na ɛde McCune-Albright yare no ba. Enti, biribiara nni hɔ a yebetumi ayɛ de asiw ano.

Sɛ worehwɛ akokoaa kwan a, ɛbɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu afotu ho na ama woahu sɛ ebia wowɔ asiane mu ma awosu mu tebea afoforo anaa. Nanso, tebea pɔtee yi, McCune-Albright syndrome, nyɛ biribi a wobetumi adi kan asiw ano.

Sɛ me ba no wɔ saa tebea yi a, dɛn na ɛsɛ sɛ mehwɛ kwan?

Nkɔmhyɛ a wobɛka ama wo ba no gyina sɛnea yare no mu yɛ den so. Nanso, nnipa dodow no ara bɔ bra sɛnea ɛsɛ. W’aduruyɛfo kuw no bɛboa wo ma woanya ayaresa a eye sen biara a ɛbɛboa ma wo ba no yare no ho sɛnkyerɛnne ahorow no so atew na ama ne yare no so atew.

Ebia wo ba no bɛyɛ tiaa kakra asen afoforo a wɔn mfe akɔ anim efisɛ onyin mprɛte no to ntɛm esiane ne babunbere ntɛm nti. Nanso, sɛ wohu tebea no na wɔsa no ntɛm a, hokwan kɛse wɔ hɔ sɛ nsakrae a ɛba wɔ mmerantebere ne mmabaabere mu yi betumi akyɛ.

Ɛho hia yiye sɛ wobɛhwɛ wo ba no nkɔso mu nsɛntitiriw sɛnea ɛbɛyɛ a wubetumi ahwɛ ahu sɛ wo ba no nyin yiye.

Asiane kakraa bi pɛ na ɛwɔ hɔ sɛ obi benya kokoram afi yare yi mu, enti ɛho hia sɛ wode wo ba kɔ ayaresabea kɔhwɛ no daa.

Titiriw no, mmea a wɔwɔ McCune-Albright yare no wɔ asiane kɛse mu sɛ wobenya nufu mu kokoram bere a wɔadi ntɛm sen sɛnea ɛte daa, enti ɛho hia sɛ wo ne wo duruyɛfo kasa fa eyi ho na woyɛ nhwehwɛmu a wɔkamfo kyerɛ.

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo ba no reda McCune-Albright yare no ho sɛnkyerɛnne adi a, kɔ oduruyɛfo nkyɛn. Nhwɛsoɔ:

• Ahomegye a wɔtaa yɛ, nneɛma a wɔyɛ boro so, abufuw a ɛpae mpofirim, ne nna a wontumi nna (eyinom betumi ayɛ thyroid a ɛboro so ho sɛnkyerɛnne).
• Nsakrae a ɛba nnompe nsusuwii mu esiane nnompe nyin a ɛnteɛ nti.
• Ɛyɛ den sɛ wobɛnantew.
• Brayɛ fi ase wɔ ne mmofraase pɛɛ.
• Ɛyaw a emu yɛ den wɔ nnompe mu.

Putupuru! Sɛ wususuw sɛ wo ba no dompe abubu (sɛ nhwɛso no, ɛyaw, ɛho ahonhon, ontumi nkɔ baabiara anaasɛ ontumi nsoa ne mu duru, akisikuru) a, kɔ baabi a wɔhwɛ wɔn a wɔwɔ yare a egye ntɛmpɛ ntɛm ara.

Nsɛm bɛn na ɛsɛ sɛ wubisa oduruyɛfo no?

Sɛ wuhu sɛ wo ba no wɔ saa tebea yi wie a, ebia ɛbɛyɛ nea mfaso wɔ so sɛ wubebisa oduruyɛfo no nsɛm te sɛ eyinom:

• So me ba hia nnuru na ama ne yare no ho sɛnkyerɛnne so atew?
• So ɛho behia sɛ wɔyɛ me ba oprehyɛn esiane fibrous dysplasia nti?
• So nsunsuanso bɔne bi wɔ nnuru a wɔde ma me ba de siw sɛnkyerɛnne ahorow ano no so?

Sɛ wuhu sɛ wo ba no wɔ awosu mu yare bi a ɛntaa nsi a, ebetumi ayɛ den ama awofo foforo. Nanso kae sɛ, sɛ wohu yare no ntɛm na wosa no yare a, ebetumi aboa wo ma wagyina yare no ho sɛnkyerɛnne no ano. Ebia wo duruyɛfo nso bɛkyerɛ sɛ kɔ awosu ho ɔfotufo bi nkyɛn, a ɔyɛ awosu ho ɔbenfo. Wobetumi aboa wo ma woate nea wɔahu no ase yiye na wɔama wo nkate fam mmoa a wuhia. Wobetumi nso akyerɛ wo kwan wɔ anammɔn a wubetumi atu de aboa wo ba ma watra ase a ahoɔden wom na abotɔyam wom no ho.

Nneɛma a ɛho hia a ɛsɛ sɛ wokae (Take-Home Message) .

McCune-Albright yare no yɛ awosu mu tebea a ɛntaa nsi, nanso ebetumi ayɛ aniberesɛm.

• Eyi ka nnompe, honam ani, ne hormone nhyehyɛe .
• Nsɛnkyerɛnne titiriw ne ``fibrous dysplasia`` (akuru ntini a ɛwɔ nnompe mu), ``café-au-lait spots`` (nsonsonoe a ɛyɛ bruu wɔ honam ani), ne mmerantebere ne mmabaabere mfiase.
• Eyi nyɛ biribi a wonya fi awofo hɔ; ɛyɛ awosu mu nsakrae a aba foforo.
• Ɛwom sɛ wonni aduru a edi mũ de, nanso ayaresa pa wɔ hɔ a wɔde siw yare no ho sɛnkyerɛnne ano.
• Sɛ wobehu yare no ntɛm na wɔasa no yare, ne aduruyɛ mu nhwehwɛmu a wɔbɛhwɛ no daa no ho hia yiye.
• Ɛnyɛ wo nko ara; hwehwɛ mmoa fi nnuruyɛfo ne awosu ho afotufo hɔ.

Mewɔ anidaso sɛ saa nsɛm yi aboa wo ma woanya tebea yi ho ntease bi. Kae sɛ, sɛ w’adwene mu yɛ wo naa a, ntwentwɛn wo nan ase da sɛ wo ne oduruyɛfo bɛkasa.

` McCune-Albright Syndrome, awosu mu nyarewa, nnompe mu nyarewa, fibrous dysplasia, honam ani nsensanee, café-au-lait nsensanee, hormone haw, mmerantebere ne mmabaabere mfiase, fibrous dysplasia, café-au-lait nsensanee, endocrine system