So wo ba no wɔ saa sɛnkyerɛnne ahorow yi? Momma yɛnka Noonan Syndrome ho asɛm

Sɛ́ ɛna anaa agya no, ebia wo ba no akwahosan ne ne nkɔso ho hia wo bere nyinaa. Ɛtɔ da bi a, ɛyɛ ade a ɛfata sɛ wobɛte ehu nka kakra bere a wuhu nsakrae nketenkete wɔ wo ba no honam ani hwɛbea anaa nkɔso mu haw ahorow mu no. Ɛnnɛ yɛrebɛka awosu mu tebea bi a ɛho hia a ɛsɛ sɛ awofo a wɔte saa hu ho asɛm. Ɛno yɛ tebea bi a wɔfrɛ no Noonan Syndrome.

Dɛn ne Noonan Syndrome?

Sɛ yɛbɛka no tiawa a, Noonan Syndrome yɛ awosu mu yare . Nsakrae a ɛba yɛn nipadua mu awosu mu nneɛma mu na ɛde ba. Saa tebea yi betumi aka wo ba no wɔ akwan horow so. Wɔwo mmofra binom a wɔwɔ saa tebea yi, nanso ebia yare no ho sɛnkyerɛnne no nyɛ den koraa . Eyi kyerɛ sɛ wobetumi atra ase sɛnea ɛsɛ a ɔhaw akɛse biara nni ho. Nanso, ebia mmofra binom behyia ɔhaw pii .

Wɔ tebea yi mu no, ebia abofra no anim wɔ nneɛma bi a ɛda nsow . Sɛ nhwɛso no, moma so a ɛkorɔn, aniwa a ɛtrɛw, aso a ɛwɔ fam, ne kɔn tiaa. Afei nso, mmofra pii a wɔwɔ Noonan Syndrome no yɛ tiaa wɔ wɔn mfe ho, a ɛkyerɛ sɛ ebia ɛbɛyɛ te sɛ nea wɔyɛ tiaa . Aniwa mu haw, ntini a ɛyɛ mmerɛw, ne komayare a wɔde awo obi nso abu so.

Nanso ade no ni, aduru biara nni hɔ a wɔde sa Noonan Syndrome. Nanso mma ɛnhaw wo! Wo duruyɛfo betumi ama wo akwankyerɛ a wuhia na ama wo ba no anya apɔwmuden sɛnea wubetumi biara. Wobetumi ne wo nso ayɛ adwuma de asiw nsɛnnennen a ebetumi afi tebea no mu aba no ano anaasɛ wɔahu. Afei wo ba no betumi atra ase a ɛyɛ nnam na ɛyɛ nnam .

Hena na onya saa tebea yi? Ɛtaa ba dɛn?

Noonan Syndrome yɛ tebea a ebetumi aba wɔ awo mu wɔ obiara mu . Yɛrentumi nkyerɛ wɔn a wɔbɛma wɔanya bi ne wɔn a wɔrennya bi. Nanso, akontaabu kyerɛ sɛ, nnipa a wɔwɔ Noonan Syndrome no mu bɛyɛ 50% nya tebea no fi wɔn awofo no mu biako hɔ. Mpɛn pii no, obi a ɔwɔ Noonan Syndrome no wɔ hokwan 50% sɛ ɔde bɛma ne ba.

Noonan Syndrome yɛ awosu mu yare a abu so kakra . Ɛne sɛ, ɛtaa ba kakra sen awosu mu nyarewa afoforo bi a wɔntaa nhu. Sɛ yɛbɛka no tiawa a, wɔbɔ amanneɛ sɛ nnipa 1,000 kosi 2,500 biara mu biako betumi anya saa tebea yi.

Dɛn na ɛde Noonan Syndrome ba?

Nea ɛde tebea yi ba titiriw ne enzymes a ɛboa ma yɛn nipadua mu ntini nyin na enyin a yenni.Ɛnam nsakrae a ɛba awosu mu nkwaadɔm bi mu (nkwaa mu nkwaadɔm mu nsakrae) na ɛba. Ne titiriw no, protein ahorow a awosu mu nkwaadɔm a wɔasesa yi yɛ no kɔ so yɛ adwuma kyɛ sen sɛnea ɛsɛ sɛ ɛyɛ. Eyi mma nkwammoaa nnyin na wɔnkyekyɛ mu yiye.

Akwan abien na Noonan Syndrome betumi afa so aba:

• Agyapade: Abofra nya saa tebea yi fi awofo no mu biako hɔ.
• Nsakrae a ɛba ara kwa: Tebea a ɛba esiane awosu mu nsakrae foforo nti, a abusua no mu biara nni tebea no bi pɛn.

Mprempren awosu mu nhwehwɛmu betumi ahu awosu mu nneɛma a ɛnteɛ wɔ nnipa a wɔwɔ Noonan Syndrome bɛyɛ 80% mu . Nanso, nhwehwɛmufo da so ara nnim nea ɛde tebea no ba ankasa wɔ nnipa a wɔaka no mu.

So tebea afoforo bi wɔ hɔ a ɛte sɛ Noonan Syndrome?

Yiw, Noonan Syndrome yɛ tebea bi a ɛka nyarewa kuw bi a ɛbata ho a wɔfrɛ no RASopathies ho. Saa nyarewa yi nyinaa fi nneɛma a ɛnteɛ wɔ ɔkwan koro no ara so sɛnea nkwammoaa nyin na enyin no. Enti, wɔn yare no ho sɛnkyerɛnne di nsɛ yiye.

Nyarewa afoforo bi a ɛka `RASopathies` kuw no ho ne:

• Koma ne anim honam ani yare
• Costello yare a ɛma obi nya yare
• Ntini mu ntini mu yare a ɛto so 1 (NF1) .
• Legius yare a ɛma obi nya ɔyare no
• Noonan yare a ɛwɔ lentigines pii (kan no na wɔfrɛ no LEOPARD syndrome) .
• Turner yare a ɛma obi nya ɔyare no

Dɛn ne Noonan Syndrome ho sɛnkyerɛnne ahorow?

Noonan Syndrome ho sɛnkyerɛnne betumi ayɛ soronko wɔ onipa biara ho. Nnipa binom nya yare no ho sɛnkyerɛnne a emu nyɛ den koraa, bere a afoforo nso wɔ yare no ho sɛnkyerɛnne a emu yɛ den a ɛde wɔn nkwa to asiane mu. Egyina abofra no nipadua no fã ko a ɛka no so. Nsɛnkyerɛnne dodow no ara fi ase bere a akokoaa no renyin wɔ awotwaa no mu, anaasɛ epue ansa na abofra no adi mfe 11 .

Anim a wotumi hu

Ebia anim a wohu wɔ mmofra a wɔwɔ Noonan Syndrome mu no bɛyera nkakrankakra bere a abofra no du mpanyin afe so no . Ɛne sɛ, ebia wɔnyɛ wɔn a wɔn ho nyɛ den pii sɛnea na wɔte mfiase no. Ebia nneɛma yi bi ne:

• Sɛ obi wɔ moma so a ɛkorɔn .
• Sɛ wowɔ abura a emu dɔ wɔ anofafa a ɛwɔ soro no mfinimfini.
• Aniwa a ɛrehwe ase (ptosis).
• Sɛ wowɔ hwene a ɛyɛ tratraa na n’ano yɛ bulbous.
• Wɔde aso no si baabi a ɛba fam sen sɛnea ɛte daa.
• Aniwa a ɛyɛ bruu anaa ahabammono a ɛyɛ hann.
• Strabismus yɛ tebea a ɛma aniwa no ntam kwan kɔ soro na aniwa no dan kɔ fam, na ɛtɔ mmere bi a ɛdan kɔ wɔn ho wɔn ho so.

Honam fam su afoforo

Wɔ anim su akyi no, nipadua mu su afoforo pii wɔ hɔ a ɛtaa ba:

• Nsateaa ano anaa nan ase a ɛho ahonhon.
• Nnadewa a ɛwɔ nsusuwii anaa kɔla soronko bi.
• Kɔn tiaa ne ti nhwi a ɛba fam wɔ kɔn no akyi, ebia na nhama wɔ kɔn no nkyɛnkyɛn.
• Sɛ obi tenten yɛ tiaa (wɔn tenten yɛ tiaa wɔ mfe a obi adi ho).
• Koko a akɔ fam (pectus excavatum) anaa koko dompe a ɛpuepue (pectus carinatum).

Koma mu yare

Ebia mmofra pii a wɔwɔ Noonan Syndrome no benya komayare a wɔde awo wɔn . Ebia mmofra binom behia komayare yi ayaresa ntɛm ara . Ebia afoforo nso rennya yare no ho sɛnkyerɛnne kosi sɛ wɔbɛkɔ akyiri. Komayare a ɛtaa ba ne:

• Atrial septal mu sintɔ.
• Koma mu ntini mu yare a ɛdɔɔso dodo.
• Ahurututu mu ntini a ɛyɛ mmerɛw.

Ɔhaw afoforo a ebetumi aba

Nea ɛka eyi ho no, Noonan Syndrome betumi de ɔhaw afoforo pii aba:

• Sɛ nhwɛso no, ɔhome a ɛyɛ den esiane ahurututu no a ɛyɛ mmerɛw (laryngomalacia) nti.
• Lymphedema (nsu a ɛboaboa ano wɔ nsa anaa nan mu).
• Nkɔso a ɛkyɛ .
• Mogya a ɛtɔ sen sɛnea ɛte daa anaasɛ akisikuru a ɛnyɛ den.
• Aduan a wɔde ma ho nsɛnnennen wɔ nkokoaabere mu.
• Mmarimaa mu mmadwoa a ɛnsiane. Sɛ wɔansa eyi a, ebetumi aka awo ho nsɛm.
• Scoliosis a ɛma obi ho kyere no.
• Anisoadehunu mu haw anaa aso a ɛyɛ den (aso a ɛyɛ den).
• Awo mu dɛmdi a ɛfa asaabo ho.

Nsɛnnennen afoforo bɛn na ɛbata Noonan Syndrome ho?

Mmofra pii a wɔwɔ Noonan Syndrome no nyin nkakrankakra sen sɛnea ɛte daa bere a wodu mmerantebere ne mmabaabere mu no. Nanso, ebia wɔbɛwo wɔn wɔ bere tenten a ɛfata mu. Bɛyɛ 25% wɔ adesua mu dɛmdi. Ebia wɔn mu kakraa bi nso wɔ adwene mu dɛmdi. Mmofra a wɔwɔ Noonan Syndrome no mu 10% kosi 15% betumi ahia nhomasua titiriw. Tebea no nso betumi ama nkɔso akyɛ, suban mu haw, anaa kasa mu ɔhaw ahorow.

Mmofra bi a wɔwɔ Noonan Syndrome nya juvenile myelomonocytic leukemia (JMML) , mogya mu kokoram a ɛntaa nsi a ɛba wɔ mmofraase.Asiane a ɛwɔ hɔ sɛ obi benya nufu mu kokoram anaa mmofra kokoram afoforo no betumi ayɛ kɛse kakra. Nanso, wosusuw sɛ asiane no nyinaa bɛyɛ 4% bere a obi adi mfe 20. Enti, kae sɛ ɛyɛ asiane a ɛba fam koraa .

Ɔkwan bɛn so na wohu sɛ obi anya Noonan Syndrome?

Ebia wo duruyɛfo besusuw sɛ ɔwɔ Noonan Syndrome bere a wɔayɛ wo ba no nipadua mu nhwehwɛmu na wasan ahwɛ ne yare no ho sɛnkyerɛnne ahorow akyi no. Nea ɛbɛyɛ na wo duruyɛfo no asi nea wɔahu no so dua na wɔayi tebea afoforo afi hɔ no, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ awosu mu nhwehwɛmu .

Wobetumi ayɛ sɔhwɛ afoforo pii ama eyi:

• Mogya dodow (CBC) nhwehwɛmu a edi mũ.
• X-ray a wɔde yɛ koko.
• CT scan a wɔde yɛ nhwehwɛmu.
• Echocardiogram yɛ sɔhwɛ a wɔde hwɛ sɛnea koma no yɛ adwuma.
• EKG nhwehwɛmu (Electrocardiogram (EKG)).
• Ultrasound nhwehwɛmu a wɔyɛ.

So aduru bi wɔ hɔ a wɔde sa Noonan Syndrome?

Dabi, aduru biara nni hɔ a wɔde sa Noonan Syndrome. Nanso mma ɛnhaw wo! Ayaresa ahorow bi wɔ hɔ a etu mpɔn a ebetumi aboa wo ne wo ba ma woadi yare no ho sɛnkyerɛnne ahorow no ho dwuma.

Ɔkwan bɛn so na wɔsa Noonan Syndrome?

Wo ba no aduruyɛ kuw no bɛyɛ Noonan Syndrome ayaresa nhyehyɛe a egyina wo ba no yare no ho sɛnkyerɛnne ne sɛnea emu yɛ den so. Ebia wo ba no benya ayaresa te sɛ:

• Mfiri a ɛboa: te sɛ ahwehwɛ anaa nneɛma a wɔde boa aso.
• Suban anaa kasa mu ayaresa .
• Nhomasua mu mmoa a wɔde ma wɔn a wɔadi dɛm wɔ adesua mu.
• Nnuru a wɔde sa abofra no komayare , mogyatɔw ho haw, anaasɛ onyin brɛoo .
• Onyin hormone ayaresa.
• Ayaresa a wɔde ka ho te sɛ compression therapy, a ɛma ahotɔ ma tebea horow te sɛ lymphedema.

Wɔ tebea horow bi mu no, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ oprehyɛn . Kae sɛ, ntɛm a wobehu no ho hia kɛse ma ayaresa a etu mpɔn ne ɔhwɛ a wɔde di akyi.

Henanom na wobetumi de wɔn aka me ba no Noonan Syndrome ayaresa kuw no ho?

Wɔ wo mmofra oduruyɛfo akyi no, nnuruyɛfo kuw a wɔhwɛ wo ba akwahosan so no betumi ayɛ nnuruyɛfo atitiriw te sɛ:

• Ntini mu nnuruyɛ ho ɔbenfo.
• Oduruyɛfo a ne ho akokwaw wɔ ntini ahorow (amemene, akyi berɛmo, ne ntini ahorow) mu (Nneurologist).
• Oduruyɛfo a ɔhwɛ kokoram so.
• Aniwa ho ɔyaresafo.
• Awosu ho ɔbenfo.
• Koma ho ɔyaresafo.
• Nkwammoaa mu nkwaadɔm ho ɔbenfo.
• Nephrologist ho ɔyaresafo.
• Dermatologist (honam ani, ti nhwi, ne nnadewa ho ɔbenfo).

Wo kuw a wɔhwɛ wo ba no bɛkamfo ayaresa a ɛfata sen biara a wɔde bɛma wo ba no akyerɛ. Wɔbɛhwɛ wo ba no tebea nso na wɔayɛ nsakrae biara a ɛho hia wɔ nnuru anaa ayaresa nhyehyɛe no mu, a egyina abofra no tebea ne nea efi mu ba biara so.

So biribi wɔ hɔ a metumi ayɛ de atew asiane a ɛwɔ hɔ sɛ me ba no benya Noonan Syndrome no so?

Dabi, biribiara nni hɔ a wubetumi ayɛ de atew asiane a ɛwɔ hɔ sɛ wo ba benya Noonan Syndrome no so. Ɛyɛ awosu mu nsakrae bi na ɛde ba . Nanso, sɛ obi wɔ w’abusua mu wɔ Noonan Syndrome a, wubetumi ne wo duruyɛfo akasa afa awosu mu nhwehwɛmu a wɔyɛ ansa na wɔawo ho, a wobetumi ayɛ bere a wonyinsɛn no .

Dɛn ne daakye ma nnipa a wɔwɔ Noonan Syndrome?

Nnipa dodow no ara a wɔwɔ Noonan Syndrome no bɔ asetra a ahoɔden wom, na wɔde wɔn ho.

Wo ba no hwɛ kuw no ne wo bɛyɛ adwuma de adi wo ba no sɛnkyerɛnne ahorow ho dwuma na wɔasiw nsɛnnennen ano. Enti, ɛho hia sɛ yɛkɔ so nya anidaso.

Bere bɛn na ɛsɛ sɛ wohwehwɛ nnuruyɛfo afotu wɔ Noonan Syndrome ho?

Sɛ Noonan Syndrome de komayare a emu yɛ den a wofi awo mu ba a , ebia ɛho behia sɛ wɔyɛ oprehyɛn na wɔkɔ so hwɛ wo ba no so na ama wo ba no anya apɔwmuden na wanya ahobammɔ. Wo duruyɛfo betumi ne wo asusuw ayaresa a wobetumi apaw ntɛm ara ne bere tenten ho.

Ɛyɛ ade a ɛfata sɛ wobɛte ehu nka bere a abofra a wɔawo no foforo anaa nea ɔrenyin nya aduruyɛ mu nhwehwɛmu no. Nanso mmofra pii a wɔahu sɛ wɔwɔ Noonan Syndrome no wɔ sɛnkyerɛnne a emu nyɛ den . Na wɔkɔ so tra ase a ɛyɛ nnam na wɔyɛ nnam. Wo ne wo duruyɛfo nkasa mfa ayaresa a etu mpɔn anaa ɔhwɛ a ɛkɔ so a wɔayɛ ama wo ba no ahiade ho. Ayaresa a wodi ntɛm betumi aboa ma wo dadwen so atew na aboa wo ba no ma wanya akwahosan mu nkɔso a eye sen biara.

Momma yɛnkae nneɛma a ɛho hia sen biara (Take-Home Message) .

Okay, enti momma yɛnsan nsusuw nsɛntitiriw a ɛho hia sen biara no ho mfi nea yɛaka ho asɛm no mu:

• Noonan Syndrome yɛ awosu mu tebea bi .
• Eyi ho sɛnkyerɛnne gu ahorow , ebi yɛ mmerɛw, ebi yɛ den kakra.
• Wubetumi ahu nneɛma te sɛ anim a ɛyɛ soronko, ne tenten tiaa, ne komayare.
• Ɛwom sɛ wonni aduru a edi mũ de, nanso ayaresa ahorow a etu mpɔn wɔ hɔ a ebetumi adi sɛnkyerɛnne ahorow no ho dwuma .
• Ɛho hia yiye sɛ wuhu yare no na wofi ase sa yare no ntɛm .
• Nnuruyɛfo atitiriw kuw bi bɛboa wo ba no.
• Mmofra pii a wɔwɔ Noonan Syndrome no tra ase wɔ anigye ne nnamyɛ mu .

Enti, sɛ wo ba no wɔ saa sɛnkyerɛnne ahorow yi a, mma wo ho nnyɛ wo hu, kɔ oduruyɛfo nkyɛn ntɛm ara na nya afotu. Wɔbɛma wo mmoa a wuhia nyinaa.

` Noonan syndrome, awosu mu nyarewa, komayare a wɔde awo obi, nkɔso a ɛkyɛ, anim tebea, mmofra akwahosan, awosu mu nhwehwɛmu