So wo ba no wɔ saa sɛnkyerɛnne ahorow yi? Momma yensua Shprintzen-Goldberg Syndrome (SGS) ho ade .

Ɛnnɛ yɛrebɛka awosu mu tebea bi a ɛntaa nsi ho asɛm, a ɛkyerɛ sɛ ɛnyɛ obiara na ohu. Wɔfrɛ no Shprintzen-Goldberg Yare (SGS). Ebia woante din yi mpo. Nanso ɛho hia yiye sɛ yehu tebea horow a ɛtete saa, efisɛ ɛno akyi no yebetumi ahu sɛnkyerɛnne ahorow no ntɛm na yɛanya aduruyɛ mu afotu a ɛho hia.

Dɛn ne Shprintzen-Goldberg Ayaresa (SGS)?

Sɛ yɛbɛka no tiawa a, Shprintzen-Goldberg Syndrome (SGS) yɛ awosu mu yare a ɛntaa nsi a ɛka yɛn nipadua no afã horow. Ɛma abofra nya anim su bi a ɛyɛ soronko, ti nhwi nnompe a ɛka bom ntɛm (wɔfrɛ eyi ``Craniosynostosis''), nnompe mu nsakrae ahorow, amemene ne ntini mu haw ahorow (sɛ nhwɛso no, adwene mu nkɔso a ɛkyɛ), ne ɛtɔ mmere bi a koma mu dɛmdi ahorow bi.

Edin foforo abien wɔ hɔ a wɔde frɛ saa tebea yi, ``Marfanoid-craniosynostosis syndrome'' ne ``Shprintzen-Goldberg craniosynostosis syndrome''. Bere a ebia ɛbɛyɛ te sɛ nea edin ahorow no yɛ den kakra no, ade titiriw ne sɛ wobɛte ase sɛ eyi yɛ awosu mu tebea.

SGS abu so dɛn?

Shprintzen-Goldberg Syndrome yɛ tebea a ɛntaa nsi koraa ankasa. Ɛde besi nnɛ no, nnuruyɛ ho kyerɛwtohɔ ahorow aka nnipa a wonnu 50 pɛ a wɔanya saa yare yi ho asɛm. Ɛno kyerɛ sɛ nnipa kakraa bi pɛ na wɔwɔ saa yare yi wɔ wiase.

Ade foforo a ɛwɔ eyi ho ne sɛ SGS ho sɛnkyerɛnne no te sɛ awosu mu tebea afoforo abien a wɔfrɛ no Marfan Syndrome ne Loeys-Dietz Syndrome kakra, enti ɛtɔ mmere bi a ebetumi ayɛ den kakra ama nnuruyɛfo sɛ wobehu no pɛpɛɛpɛ. Enti, ɛyɛ den sɛ yɛbɛka nnipa dodow a wɔwɔ saa tebea yi ankasa.

Nsonsonoe bɛn na ɛwɔ Shprintzen-Goldberg Yare, Marfan Yare, ne Loeys-Dietz Yare no ntam?

Ɛwom sɛ ebia ɛbɛyɛ te sɛ nea tebea abiɛsa yi ho sɛnkyerɛnne di nsɛ de, nanso awosu mu nsakrae ahorow na ɛde ba . Ne titiriw no, nnipa a wɔwɔ SGS no taa nya adwene mu dɛmdi. Wɔn nso asiane a ɛwɔ hɔ sɛ wobenya komayare no sua sen wɔn a wɔwɔ Marfan Syndrome ne Loeys-Dietz Syndrome no. Nanso kae sɛ, saa nneɛma yi nyinaa betumi ayɛ soronko wɔ onipa biara ho.

Dɛn ne nneɛma a ɛde Shprintzen-Goldberg Syndrome (SGS) ba?

Mpɛn pii no, nea ɛde SGS ba titiriw ne awosu mu nkwaadɔm bi a wɔfrɛ no `(SKI)` mu nsakrae a ɛba yɛn nipadua mu. Saa SKI awosu mu abɔde yi yɛ protein bi a ɛboa wɔ nneɛma atitiriw pii a ɛkɔ so wɔ yɛn nkwammoaa mu, te sɛ onyin, mpaapaemu, kankyee, onyin, ne owu mu.

Susuw ho hwɛ, esiane sɛ saa SKI protein yi wɔ yɛn nipadua mu ntini ahorow mu nti, sɛ nsakrae ba saa awosu mu abɔde yi mu a, ebetumi aka nipadua no afã horow. Ɛno nti na yehu sɛnkyerɛnne ahorow wɔ SGS mu no.

Nanso, SGS ayarefo binom nni SKI awosu mu nkwaadɔm mu nsakrae no, enti nyansahufo da so ara reyɛ nneɛma afoforo a ebetumi de tebea no aba wɔ nsɛm a ɛtete saa mu no mu.

So eyi yɛ biribi a efi awo ntoatoaso ahorow mu?

Mpɛn pii no, Shprintzen-Goldberg Syndrome nyɛ nea wonya fi awo mu.Saa awosu mu nsakrae yi taa ba kwa, kyerɛ sɛ, wɔ nyinsɛn akyi, wɔ awotwaa no fã no mu. Enti, nnipa pii a wɔwɔ saa yare yi nni abusua abakɔsɛm biara a ɛfa yare no ho.

Nanso, ɛntaa mma koraa , tebea no betumi afi ɔwofo hɔ akɔ abofra mu. Sɛ wɔde ma a, ɛwɔ autosomal dominant nhyehyɛe mu. Sɛ yɛbɛka no tiawa a, eyi kyerɛ sɛ sɛ abofra nya awosu mu nkwaadɔm a wɔayɛ no foforo no bi fi ɔwofo biako pɛ hɔ mpo a, abofra no betumi akɔ so anya tebea no.

Dɛn ne Shprintzen-Goldberg Syndrome (SGS) ho sɛnkyerɛnne ahorow?

SGS ho sɛnkyerɛnne betumi ayɛ soronko kɛse wɔ nnipa biara mu. 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. Saa sɛnkyerɛnne ahorow yi betumi aka nipadua no afã horow.

Nsɛnkyerɛnne a ɛkyerɛ sɛ ti nhwi nnompe no bɛka abom ntɛm (`(Craniosynostosis)`):

Sɛ akokoaa ti nnompe bom ntɛm, wɔ awotwaa mu anaasɛ wɔ awo mu a, tebea bi a wɔfrɛ no ``Craniosynostosis'', sɛnkyerɛnne te sɛ:

• Ti a ɛware na ɛyɛ teateaa.
• Aniwa no ntam kwan a ɛkɔ soro, aniwa a ɛpue kɔ anim anaasɛ ɛkɔ fam.
• Anom a ɛkorɔn na ɛyɛ teateaa (ano no atifi).
• Moma so a ɛkorɔn a ɛda nsow.
• Nhama ketewaa bi a ɛwɔ ase.
• Wɔde aso no si fam sen sɛnea ɛte daa na ɛtɔ mmere bi a wɔdan kɔ akyi.

Nnompe mu nneɛma afoforo a ɛnteɛ:

Sɛ eyi da nkyɛn a, wobetumi ahu nsakrae afoforo a aba nnompe no mu te sɛ:

• Nkwaa a ɛkɔ baabiara boro so.
• Clubfoot a wɔde di dwuma.
• Koko a ɛpuepue kɔ anim anaasɛ ɛkɔ mu (Pectus excavatum/carinatum).
• Scoliosis a ɛma obi ho kyere no.
• Nsateaa a wɔabɔ no daa (`(Camptodactyly)`).
• Ɛware sen nsa ne nan a ɛyɛ daa.
• Nsateaa atenten a ɛyɛ tratraa (`(Arachnodactyly)`). Ebinom ka sɛ wɔte sɛ akɔre nan.

Nnipa afoforo bi nso betumi anya yare no ho sɛnkyerɛnne te sɛ eyinom:

• Sɛ nhwɛso no, amemene mu nneɛma a ɛnteɛ, nsu a ɛboro so wɔ amemene no mu (hydrocephalus).
• Nkɔso a ɛkyɛ ne adwene mu dɛmdi a emu nyɛ den kosi nea ɛkɔ fam.
• Nnuan a wɔyam no mu haw ahorow, sɛ nhwɛso no, akisikuru anaasɛ yafunu mu a ɛkyɛ (Gastroparesis).
• Yafunu anaa akyi berɛmo mu akisikuru (`(Hernias)`).
• Wora a ɛyɛ mmerɛw, te sɛ nea wotumi hu fa mu, na ɛnyɛ den sɛ ɛbɛpirapira.
• Ɔhome a ɛyɛ den.
• Ntini mu mmerɛwyɛ (`(Hypotonia)`). Eyi kyerɛ tebea a nipadua no te nka sɛ nkwa nni mu.

Koma mu sɛnkyerɛnne ahorow a ɛntaa nsi:

Eyinom nsi obiara, nanso ebia nnipa binom benya komayare te sɛ eyinom:

• Aortic aneurysm (aorta no fasu a ɛyɛ mmerɛw).
• Mogya no kɔ akyi efisɛ aortic valve no ntumi nto mu yiye (Aortic regurgitation).
• Aorta ntini a ɛtrɛw (`(Aortic root dilation)`).
• Mogya a ɛretu fi koma no mu (`(Mitral valve regurgitation)`).
• Mitral valve prolapse (koma no mitral valve no dwumadi a ɛnteɛ).

Nea ɛho hia ne sɛ ɛnyɛ SGS ayarefo nyinaa na wɔwɔ saa sɛnkyerɛnne ahorow yi nyinaa. Ebia nnipa binom wɔ emu kakraa bi pɛ, na sɛnea yare no ho sɛnkyerɛnne no mu yɛ den no betumi ayɛ soronko.

Ɔkwan bɛn so na wohu sɛ obi anya Shprintzen-Goldberg Syndrome (SGS)?

SGS a wobehu no betumi ayɛ den kakra. Sɛnea madi kan aka no, esiane sɛ ɛyɛ tebea a ɛntaa nsi na wobetumi de afrafra Marfan Syndrome anaa Loeys-Dietz Syndrome nti, ɛtɔ mmere bi a wobetumi akyɛ sɛ wobehu yare no.

Oduruyɛfo gyina sɛnkyerɛnne ne sɛnkyerɛnne ahorow so titiriw na ehu yare no. Eyi kyerɛ sɛ wɔbɛhwehwɛ abofra no honam ani hwɛbea, ne nkɔso, ne akwahosan ho haw afoforo mu yiye. Ɛtɔ mmere bi a, awosu mu nhwehwɛmu betumi asi SKI awosu mu nkwaadɔm mu nsakrae no so dua. Nanso esiane sɛ nnipa a wonni saa awosu mu nkwaadɔm mu nsakrae yi nso betumi anya SGS nti, mprempren nhwehwɛmu pɔtee foforo biara nni hɔ a ebetumi aboa ma wɔahu yare no.

Ɔkwan bɛn so na wɔsa Shprintzen-Goldberg Syndrome (SGS) no?

Nea ɛyɛ awerɛhow no, mprempren wonni aduru pɔtee biara a wɔde sa tebea yi. Botae titiriw a ɛwɔ Shprintzen-Goldberg Syndrome ayaresa mu ne sɛ wobedi yare no ho sɛnkyerɛnne ahorow ho dwuma na wɔaboa ɔyarefo no ma watra ase yiye sɛnea obetumi biara.

Ayaresa a wobetumi apaw no betumi ayɛ soronko, a egyina ɔyarefo no sɛnkyerɛnne ahorow so. Nhwɛso kakraa bi ni:

• Nantew a wɔbɛma ayɛ mmerɛw denam nan anaa akyi a wɔde gyina so (`(braces)`) a wɔbɛhyɛ so.
• Fa afiri a wɔde ma aduan di dwuma, sɛ ɛho hia a, na ama woanya aduan pa a ɛfata.
• Nnuru a wɔde ma de sa komayare.
• Oprehyɛn a wɔyɛ de siesie komayare anaa nnompe mu haw ahorow a ɛwɔ ti nhwi, akyi berɛmo, anaa koko mu.
• Sɛ mframa kwan no siw a, wobetumi ayɛ oprehyɛn a wɔde bue (tracheostomy) wɔ kɔn no anim.

Afei nso, wo duruyɛfo betumi akamfo nhwehwɛmu yi akyerɛ pɛnkoro afe biara anaa mfe abien biara, efisɛ ebetumi aboa wo ma woahu sɛ nsakrae bi aba wo tebea no mu anaa:

• Nnompe mu duru ho sɔhwɛ.
• Echocardiogram sɔhwɛ a wɔde hwɛ koma no so.
• Magnetic resonance angiography (MRA) anaa kɔmputa so tomography angiography (CTA) nhwehwɛmu de hwehwɛ mogya ntini mu.
• Hwɛ sɛ nsakrae biara aba nnompe no mu (X-rays).

Ebia ɛho behia sɛ wɔyɛ animdefo kuw bi na wɔasa obi a ɔwɔ Shprintzen-Goldberg Syndrome yare. Saa kuw yi betumi ayɛ nnuruyɛfo atitiriw te sɛ:

• Koma ho ɔyaresafo
• Craniofacial oprehyɛn ho ɔbenfo (ti ne anim nnompe ho oprehyɛn) .
• Awosu ho ɔbenfo
• Amemene ne ntini mu oprehyɛn ho ɔbenfo (`(Neurosurgeon)`) .
• Occupational therapist - Obi a ɔboa nkurɔfo ma wɔyɛ da biara da nnwuma a ɛnyɛ den.
• Aniwa ho oduruyɛfo - ma anisoadehunu ho haw (e.g. myopia).
• Oral surgeon - Ma ɔhaw ahorow a ɛfa sẽ ne anom ho.
• Nnompe ho oprehyɛn (nnompe, nkwaa ne akyi berɛmo ho oprehyɛn) .
• Mmofra oduruyɛfo
• Physical therapist - Obi a ɔboa ma kankyee ne nipadua dwumadi tu mpɔn.
• Adwene ne nneyɛe ho ɔbenfo
• Radiologist (`(Radiologist)`) - ma aduruyɛ mu mfoniniyɛ.
• Kasa mu ayaresa ho nimdefo (`(Speech therapist)`) - ma kasa mu nsɛnnennen.

Ɛyɛ saa nnipa yi nyinaa mmoa so na yebetumi de ayaresa ne ɔhwɛ a eye sen biara ama ɔyarefo no.

So wobetumi asiw Shprintzen-Goldberg Syndrome (SGS) ano?

Mprempren ɔkwan biara nni hɔ a wɔbɛfa so asiw awosu mu nsakrae a ɛde Shprintzen-Goldberg Syndrome ba no ano. Eyi te saa efisɛ ɛtaa ba kwa. Afei nso, nyansahufo nnya nhuu nneɛma afoforo a ɛde ba no ka SKI awosu mu abɔde no ho.

Dɛn ne nkwa nna a Shprintzen-Goldberg Syndrome (SGS) di?

Obi a ɔwɔ SGS nkwa nna (nkɔmhyɛ) gyina sɛnea tebea no mu yɛ den so. Wɔ nsɛm a yare no ho sɛnkyerɛnne a emu nyɛ den mu no, ebia nkwa nna rennya nkwa nna so nkɛntɛnso kɛse. Nanso, wɔ nsɛm a amemene, koma, anaa aduan a wɔyam no ka kɛse mu no, nkwa nna betumi atew.

Dɛn bio na ɛsɛ sɛ mibisa me duruyɛfo fa Shprintzen-Goldberg Syndrome (SGS) ho?

Sɛ wuhu sɛ wo ba no wɔ Shprintzen-Goldberg Syndrome a, ebia wubenya nsɛmmisa pii. Wɔ mmere a ɛtete saa mu no, ɛyɛ papa sɛ wubebisa w’aduruyɛfo kuw no nsɛm te sɛ:

• So saa awosu mu nsakrae yi fi awo mu, anaasɛ ɛbae ara kwa?
• Nhyehyɛe bɛn na ɛwɔ abofra no nipadua mu a tebea yi ka?
• Ayaresa bɛn na me ba hia?
• Dɛn ne sɛnkyerɛnne anaa nsɛnkyerɛnne a ɛhwehwɛ sɛ wɔde wɔn kɔ ayaresabea ntɛm ara?
• So me ba no bɛkyɛ wɔ nkɔso mu anaasɛ obenya adwene mu dɛmdi?
• So tebea yi bɛma me ba no nkwa nna ayɛ tiaa?
• Nnuruyɛfo atitiriw bɛn na ɛsɛ sɛ yɛkɔ wɔn nkyɛn? Mpɛn dodoɔ sɛn?
• So ɛsɛ sɛ wɔhwɛ me ba no nnompe, ne koma, ne mogya ntini, ne n’amemene mu daa?
• So mmoa akuw bi wɔ hɔ a wobetumi aboa yɛn ma yɛatena ase wɔ tebea yi mu?
• So wokamfo awosu ho afotu anaa nhwehwɛmu kyerɛ?

Ɛwom sɛ Shprintzen-Goldberg Syndrome yɛ awosu mu yare a ɛntaa nsi de, nanso ɛho hia sɛ wuhu na wohwehwɛ aduruyɛfo afotu ntɛm ara sɛnea wubetumi. Sɛ wususuw sɛ wo ba no wɔ saa sɛnkyerɛnne ahorow yi a, yɛsrɛ wo kɔ oduruyɛfo titiriw bi nkyɛn na ama wahu yare no pɛpɛɛpɛ.

Awiei koraa no, kae eyi (Take-Home Message) .

Shprintzen-Goldberg Syndrome (SGS) yɛ awosu mu yare a ɛntaa nsi koraa a ebetumi ama nsakrae aba abofra anim, nnompe, amemene, ne ebia koma mpo mu.Eyi betumi afi awo mu, anaasɛ ebetumi aba kwa.

Ɛwom sɛ wonni aduru biara de, nanso ayaresa ahorow wɔ hɔ a wobetumi de aboa ma wɔadi yare no ho sɛnkyerɛnne ahorow no ho dwuma. Sɛ nnuruyɛfo kuw bi boa wo a, wo ba no betumi atra ase yiye sɛnea obetumi biara. Sɛ wususuw sɛ wo ba no wɔ saa sɛnkyerɛnne ahorow yi a, nsuro sɛ wo ne oduruyɛfo bɛkasa. Sɛ wohu yare no ntɛm na wɔsa no yare yiye a, ebetumi ama nsakrae kɛse aba. Kae sɛ ɛnyɛ wo nko ara. Mmoa akuw ne nneɛma bi wɔ hɔ a wɔde bɛboa mmusua a wɔredi tebea horow yi ho dwuma.

` Shprintzen-Goldberg Syndrome, SGS, Awosu mu Nyarewa, Craniosynostosis, SKI Awosu mu Awosu, Nnompe mu Nneɛma a Ɛnteɛ, Nkɔso a Ɛkyɛ, Nyarewa a Ɛntaa Nhu