Dɛn ne Noonan Syndrome? Nsuro, momma yɛnhwɛ eyi

So woahyɛ biribi a ɛyɛ nwonwa nsow wɔ wo ba kumaa no anim pɛn? Ebia n’aniwa ntam kwan ware kakra, anaasɛ ne kɔn yɛ tiaa kakra... Sɛ ɛte sɛ nea wo ba no nyin brɛoo kakra ka saa nneɛma yi ho a, nea enti a ɛte saa no betumi ayɛ tebea bi a wontee ho asɛm da a wɔfrɛ no ‘Noonan Syndrome.’ Mma ɛnhaw wo, eyi nyɛ biribi a nnipa pii nim ho asɛm. Enti momma yɛnka ho asɛm nnɛ ara kwa.

Dɛn ankasa ne Noonan Syndrome?

Sɛ yɛbɛka no tiawa a, Noonan syndrome yɛ awosu mu yare a wɔde wo abofra. Eyi betumi aka sɛnea abofra no nipadua akwaa ahorow nyin. Mmofra binom nya yare no ho sɛnkyerɛnne a emu nyɛ den koraa esiane tebea yi nti. Ɛne sɛ, wonhu wɔn wɔ akyi. Nanso, ebia mmofra binom benya akwahosan ho haw a emu yɛ den kɛse .

Wɔ tebea yi mu no, abofra no betumi anya anim afã pɔtee bi (sɛ nhwɛso no, ne moma so trɛw, n’ani a ɛda ntam kɛse), ne tenten yɛ tiaa (ɔyɛ tiaa), aniwa mu haw ahorow, ne koma mu dɛmdi a wɔde woo no.

Hena na onya saa tebea yi? Ɛtaa ba dɛn?

Noonan syndrome yɛ tebea a ebetumi aba wɔ awo mu wɔ obiara mu. Ɛnyɛ obiara mfomso na ɛde ba.

• Agyapadeɛ a ɛfiri awofoɔ hɔ: Mmofra a wɔwɔ Noonan syndrome no mu bɛyɛ 50% wɔ ɔwofoɔ a ɔwɔ tebea no. Wei kyerɛ sɛ sɛ ɔwofoɔ no mu biara wɔ tebea no a, abofra no wɔ hokwan 50% sɛ ɔbɛnya bi nso.
• Nea ɛba kwa: Ɛtɔ mmere bi a, tebea yi nso betumi aba esiane nsakrae a ɛba kwa (nsakrae a ɛba ara kwa) wɔ abofra no awosu mu nti, a abusua no mu biara nni tebea no.

Eyi nyɛ tebea a ɛntaa nsi sɛnea ebia wubesusuw no. Sɛ wɔkyekyem pɛpɛɛpɛ a, nkokoaa 1,000 kosi 2,500 biara a wɔwo wɔn mu biako na saa tebea yi ka no.

Dɛn na ɛde Noonan yare no ba?

Awosu mu nkwaadɔm pɔtee bi wɔ hɔ a ɛka kyerɛ yɛn nipadua mu ntini sɛ enyin na ɛpaapae. Noonan syndrome taa fi nsakrae (`mutations`) a ɛba saa awosu mu nkwaadɔm yi mu. Esiane nsakrae yi nti, protein ahorow a saa awosu mu nkwaadɔm no yɛ no tra hɔ kyɛ sen sɛnea ɛsɛ sɛ ɛyɛ adwuma. Ɛte sɛ kanea a ɛtra hɔ hyerɛn mmom sen sɛ ɛbɛdum bere a ɛsɛ sɛ edum no. Eyi sɛe nkwammoaa nyin ne mpaapaemu a ɛfata.

So tebea afoforo bi wɔ hɔ a ɛte sɛ eyi?

Yiw, Noonan syndrome yɛ tebea a ɛka nyarewa kuw bi a wɔfrɛ no `RASopathies` ho. Nyarewa afoforo a ɛwɔ kuw yi mu nso wɔ awosu mu nneɛma a ɛte saa ara. Enti, wɔn yare no ho sɛnkyerɛnne taa te sɛ wɔn ho wɔn ho.

Tebea horow a ɛtete saa no bi ni:

• ``Koma ne anim honam ani yare''.
• `Costello ɔyare mmoawa`
• ``Ntini mu ntini mu yare a ɛto so 1 (NF1)''.
• `Legius ɔyare mmoawa`
• `Turner syndrome`

Dɛn ne Noonan yare no ho sɛnkyerɛnne?

Nsɛnkyerɛnne no betumi ayɛ soronko koraa wɔ abofra biara mu. Mmofra binom betumi anya yare no ho sɛnkyerɛnne a emu nyɛ den koraa, bere a afoforo nso betumi anya yare no ho sɛnkyerɛnne a emu yɛ den a ɛde wɔn nkwa to asiane mu. Nsɛnkyerɛnne pii fi ase wɔ awotwaa mu anaasɛ epue ansa na wadi mfe 11.

Nanso adepa a ɛwom ne sɛ bere a abofra no nyin no, n’anim a ɛda nsow no pii yera nkakrankakra.

Sɛnea ɛbɛyɛ a ɛbɛyɛ mmerɛw sɛ yɛbɛte ase no, momma yɛnkyekyɛ saa su ahorow yi mu nyɛ no pon ahorow pii.

Ɔhaw ahorow a ɛfa koma ho

Ebia mmofra pii a wɔwɔ Noonan yare no benya komayare a wɔde awo wɔn. Ebia mmofra binom behia ayaresa ntɛm ara . Mmofra binom nso betumi anya komayare akyiri yi. Koma mu yare a ɛtaa ba no bi ne:

• Tokuru a ɛda koma no ntini ntam (atrial septal defect).
• Koma no ntini a ɛyɛ den (Hypertrophic cardiomyopathy).
• Ahurututu mu ntini a ɛyɛ mmerɛw .

Akwahosan ho haw afoforo a ebetumi aba

• Ɔhome mu haw: Sɛ nhwɛso no, tebea horow te sɛ `laryngomalacia`.
• Nsa ne anan a ɛho ahonhon: Nsu a ɛboaboa ano (lymphedema) esiane ɔhaw bi a ɛwɔ lymphatic system no mu nti.
• Nkɔso a ɛkyɛ .
• Mogya a ɛbɛtɔ anaasɛ akuru a ɛnyɛ den .
• Ɛyɛ den sɛ ɔbɛma nufu wɔ nkokoaabere mu.
• Mmarimaa mu mmadwoa a ɛnsiane . Sɛ wɔansa eyi a, ebetumi ama obi antumi awo daakye.
• Scoliosis a ɛma obi ho kyere no .
• Anisoadehu anaa aso a ɛyɛ den.
• Awo mu dɛmdi a ɛfa asaabo ho.

Nsɛnnennen afoforo bɛn na ɛde eyi ba?

Mmofra pii a wɔwɔ Noonan yare no nyin nkakrankakra sen sɛnea ɛte daa, titiriw wɔ mmerantebere ne mmabaabere mu. Afei nso, mmofra bɛyɛ 25% betumi anya adesua mu dɛmdi. Nanso, nnipa kakraa bi pɛ na wɔwɔ adwene mu dɛmdi. Eyi kyerɛ sɛ mmofra dodow no ara tumi sua ade sɛnea ɛsɛ. Mmofra bɛyɛ 10-15% betumi ahia nhomasua mmoa titiriw.

Bio nso, mmofra binom wɔ asiane a ɛkɔ soro kakraa bi pɛ sɛ wobenya mmofra mogya mu kokoram tebea bi a ɛntaa nsi a wɔfrɛ no `juvenile myelomonocytic leukemia (JMML)` anaa mmofra kokoram afoforo. Nanso mma ɛnhaw wo, asiane yi sua koraa, ɛyɛ 4% bere a woadi mfe 20 no.

Ɔkwan bɛn so na oduruyɛfo no hu eyi? (Nyare a Wɔahu) .

Ebia wo duruyɛfo besusuw sɛ Noonan syndrome bere a wayɛ wo ba no nipadua mu nhwehwɛmu na wabisa wo sɛnkyerɛnne ahorow no akyi. Nea ɛbɛyɛ na wo duruyɛfo akyerɛ sɛ wɔahu yare no na wɔayi tebea afoforo afi hɔ no, obetumi ahyɛ sɛ wɔnyɛ nhwehwɛmu ahorow.

Ebia sɔhwɛ ahorow yi bi ne:

• Mogya dodow a wɔde ma a edi mũ (CBC) .
• Koko so X-ray a wɔyɛ
• CT scan a wɔde yɛ adwuma
• `Echocardiogram' sɔhwɛ a ɛhwɛ sɛnea koma no yɛ adwuma
• `Electrocardiogram (EKG)` sɔhwɛ a ɛhwɛ sɛnea koma no mu anyinam ahoɔden yɛ adwuma.
• Awosu mu nhwehwɛmu
• Ultrasound scan (`Nnyigyei kɛse`) .

So aduru bi wɔ hɔ a wɔde sa Noonan yare no?

Wonnya nnyaa Noonan yare no ano aduru biara. Nanso, ayaresa ahorow pii wɔ hɔ a etu mpɔn a ebetumi aboa wo ba ma wadi ne yare no ho sɛnkyerɛnne ahorow ho dwuma na watra ase yiye .

Aduruyɛ kuw a wɔresa wo ba no yare no bɛyɛ ayaresa nhyehyɛe a egyina wo ba no yare no ho sɛnkyerɛnne ne sɛnea emu yɛ den so. Ebia nhyehyɛe no bi ne:

• Mfiri a ɛboa: Nneɛma te sɛ aniwa ahwehwɛ anaa mfiri a wɔde boa aso.
• Suban anaa kasa mu ayaresa .
• Nhomasua mu mmoa: Mmoa titiriw a wɔde bɛma wɔn a wɔadi dɛm wɔ adesua mu.
• Nnuru: Nnuru a wɔde sa komayare, de siw mogya a ɛtɔ so, anaasɛ ɛma onyin brɛoo.
• Onyin hormone a wɔde sa yare .
• Ayaresa a wɔde ka ho: Nneɛma te sɛ compression therapy a wɔde sa lymphedema (swelling).

Wɔ tebea horow bi mu no, ebia wo duruyɛfo bɛkamfo akyerɛ sɛ wɔnyɛ no oprehyɛn. Ɛho hia sɛ wohu yare no ntɛm na ama wɔatumi asa yare no yiye na wɔadi akyi.

Daakye bɛyɛ dɛn? Na so wobetumi asiw eyi ano?

Eyi ne ade a ɛho hia sen biara. Nnipa dodow no ara a wɔwɔ Noonan yare no bɔ asetra a ahoɔden wom, na wɔde wɔn ho. Wo ba no aduruyɛ kuw no bɛboa wo ma woadi wo ba no sɛnkyerɛnne ahorow ho dwuma na woasiw nsɛnnennen ano.

Esiane sɛ awosu mu nsakrae na ɛde tebea yi ba nti, biribiara nni hɔ a yebetumi ayɛ de asiw ano. Nanso, sɛ obi a ɔwɔ w’abusua mu wɔ Noonan syndrome a, wubetumi ne wo duruyɛfo akasa afa awosu mu nhwehwɛmu a wɔyɛ ansa na wɔawo no ho.

Ɛyɛ ade a ɛfata sɛ wobɛte ehu nka bere a wɔahu sɛ abofra bi anya yare a ɛte sɛɛ no. Nanso kae sɛ mmofra dodow no ara a wɔwɔ Noonan yare no wɔ sɛnkyerɛnne ahorow a emu nyɛ den. Wobetumi atra ase a ɛyɛ nnam na ɛyɛ nnam. Enti wo ne wo duruyɛfo nkasa mfa ayaresa a eye ma wo ba no ho. Sɛ wufi ase sa yare ntɛm a, ebetumi aboa ma wo ba no anya akwahosan pa.