Dɛn ne Timothy Syndrome? So wo ba no nya saa nneɛma yi? Momma yɛnkasa!

So wo ba kumaa no koma mu haw, anaasɛ nsakrae a aba wɔ ne honam ani hwɛbea anaa ne nkɔso mu no haw wo? Ɛtɔ da bi a, ebia nea ɛde ba titiriw ne awosu mu tebea bi a yɛntee ho asɛm pii. Tebea a ɛte saa a wɔntaa nhu nanso ɛho hia a ɛsɛ sɛ yehu ho asɛm ne Timothy syndrome. Ɛnnɛ, yɛbɛka ho asɛm tiawa, wɔ ɔkwan a wobɛtumi ate aseɛ so.

Dɛn ne Timothy Syndrome?

Sɛ yɛbɛka no tiawa a, Timothy syndrome yɛ awosu mu yare a ɛntaa nsi koraa. Ebetumi aka wo ba no koma, ne honam ani hwɛbea, ne ntini ahorow, ne ne nipadua mu ahoɔden a ɛko tia nyarewa . Nsɛnkyerɛnne no betumi ayɛ soronko, na mmofra binom betumi anya koma a ɛbɔ ho haw a ɛde wɔn nkwa to asiane mu.

Hena na onya eyi? Ɔkwan bɛn so na wonya fi awo mu?

Afei ebia worebisa wo ho sɛ, ‘Hena na onya eyi?’ Timothy syndrome yɛ awosu mu yare, enti obiara betumi anya bi. Ɛba saa:

• Mpɛn pii no, ɛsɛ sɛ abofra nya tebea no fi ɔwofo biako pɛ hɔ, na wɔfrɛ no autosomal dominant inheritance.
• Ɛtɔ mmere bi a, nea ɛyɛ nwonwa no, abofra betumi anya tebea no afi ɔwofo a onni sɛnkyerɛnne biara hɔ. Nea enti a ɛte saa ne sɛ ebia awosu mu abɔde a ɛka no no wɔ ɔwofo no nipadua mu nkwammoaa bi nkutoo mu, na ɛnyɛ nkwammoaa nyinaa mu . Wɔfrɛ eyi `mosaic` tebea.
• Nanso, esiane sɛnea saa sɛnkyerɛnne ahorow yi mu yɛ den nti, ɛntaa nsi koraa sɛ obi a ɔwɔ Timothy syndrome de saa awosu mu abɔde yi bɛma awo ntoatoaso a edi hɔ no.
• Mpɛn pii no, tebea yi ba esiane awosu mu nsakrae foforo bi nti, a enni abusua abakɔsɛm biara . Ɛne sɛ, esiane awosu mu nsakrae foforo nti.

Eyi abu so dɛn?

Sɛ yesusuw sɛnea ɛtaa ba no ho a, Timothy syndrome yɛ tebea a ɛntaa nsi koraa . Nnipa a ennu 100 pɛ na wonim sɛ wɔwɔ bi wɔ wiase nyinaa. Enti wɔnka ho asɛm pii.

Dɛn ne Timothy Syndrome ho sɛnkyerɛnne ahorow?

Saa sɛnkyerɛnne ahorow yi betumi ayɛ soronko wɔ abofra biara mu, na ɛsono sɛnea sɛnkyerɛnne ahorow no mu yɛ den. Ebia wo ba no benya yare no ho sɛnkyerɛnne bi, nanso ebia onni bi. Saa sɛnkyerɛnne ahorow yi ka koma no, sɛnea nipadua no te, ne nipadua no dwumadi afoforo titiriw .

Nsɛnkyerɛnne a ɛka koma no

Nsɛnkyerɛnne a ɛfa koma ho ne ade a ɛho hia sen biara a ɛsɛ sɛ yɛhwɛ so yiye, efisɛ eyinom betumi de nkwa ato asiane mu.

• Ebia wubehu sɛ koma bɔ ntɛmntɛm anaasɛ ɛnteɛ (a ɛbɔ denneennen) bere a wode wo nsa to wo ba no koko so no.
• Nhumu a ɛyera mpofirim (syncope) .

Eyi fi:

• Gyinabea a ɛkyɛ wɔ koma a ɛbɔ ntam. Nnuruyɛfo frɛ eyi `QT a ɛkyɛ`.
• Koma yare a wɔde awo obi (koma no nhyehyɛe mu sintɔ a ɛwɔ hɔ bere a wɔawo no) betumi aka tumi a koma no tumi fa mogya.
• Koma a ɛbɔ ntɛmntɛm (arrhythmia) .
• Koma no ase adan (ventricles) no bɔ ntɛmntɛm yiye (`ventricular tachycardia`) . Eyi yɛ asiane kɛse.

Kae sɛ, koma mu sɛnkyerɛnne ahorow yi betumi de wo nkwa ato asiane mu . Ɛsɛ sɛ wohwɛ yiye paa wɔ eyi ho efisɛ ebetumi ama wo koma agyae mpofirim (koma a ɛyɛ den) anaasɛ mpo owu mpofirim.

Su ahorow a ɛfa nipadua no hwɛbea ho

Mmofra a wɔwɔ Timothy syndrome no wɔ nipadua mu su pɔtee bi a wotumi hu bere a wɔawo wɔn:

• Wɔka nsateaa ntam were no bom (`cutaneous syndactyly`) . Te sɛ ananse de. Ebetumi aba wɔ nsa ne anan nyinaa so.
• Abɔnten a ɛda hwene ntam no a ɛyɛ tratraa .
• Wɔde aso no si fam sen sɛnea ɛte daa .
• Anom a ɛwɔ soro no a wɔbubu .
• Anofafa a ɛwɔ soro no a ɛyɛ teateaa .
• Nse a ɛyɛ mmerɛw ne nea ɛyɛ kronkron .
• Nwi a enni hɔ, te sɛ nea ne ti nhwi ayɛ fitaa bere a wɔawo no .

Nsɛnkyerɛnne a ɛka nipadua nhyehyɛe ahorow

Saa tebea yi nso ka abofra no amemene no afã horow a ɛhwɛ nipadua no nhyehyɛe ahorow bi so no. Enti, ebia wubehu sɛnkyerɛnne ahorow te sɛ:

• Nkɔso a ɛkyɛ ne ɔhaw ahorow a ɛba wɔ adwene mu dwumadi mu . Sɛ wɔde toto mmofra afoforo ho a, ebia ɔkasa ne nantew bɛkyɛ.
• Nyarewa a wɔtaa nya . Esiane sɛ nipadua no tumi ko tia nyarewa nti, nyarewa no trɛw ntɛmntɛm.
• Asikre dodow a ɛba fam wɔ mogya mu (hypoglycemia) .
• Nipadua mu hyew a ɛso tew (hypothermia) .
• Akisikuru a ɛma obi ho kyere no (wobetumi afrɛ eyinom nso akisikuru anaasɛ akisikuru a ɛma hann te) .
• Ɛyɛ den sɛ wo ne afoforo bedi nkitaho na wo ne wɔn bɛbɔ (autism spectrum disorder) . Ebia wɔbɛte nka sɛ wɔwɔ wɔn ankasa wiase.

Dɛn na ɛde Timothy Syndrome ba?

Sɛ yɛhwɛ nea ɛde eyi ba a, Timothy syndrome fi awosu mu nsakrae anaa nsakrae a ɛba awosu mu nkwaadɔm `CACNA1C` mu . Saa awosu mu abɔde yi kyerɛ yɛn sɛ yɛnyɛ protein bi a ɛde calcium ions kɔ yɛn koma nkwammoaa (cardiomyocytes) ne yɛn amemene mu nkwammoaa (neurons) mu.

Fa no sɛ, protein a `CACNA1C` gene no yɛ no te sɛ ɔpon. Saa ɔpon yi bue na ɛto mu, na ɛma calcium atom ahorow tumi hyɛn nkwammoaa no mu na wofi mu. Sɛ awosu mu nsakrae bi ba a, ɔpon yi kɔ so bue a ɛnto mu yiye . Afei calcium kɔ so sen kɔ nkwammoaa no mu. Sɛ calcium a ɛboro so yi boaboa ano a, Timothy syndrome ho sɛnkyerɛnne ahorow ba, na nipadua no nhyehyɛe ahorow bi ntumi nyɛ adwuma yiye.

Saa calcium atom ahorow yi ho hia yɛn nipadua no yiye:

• Di nkwammoaa mu anyinam ahoɔden dwumadi so.
• Nkwammoaa ne wɔn ho wɔn ho di nkitaho.
• Boa ma ntini ahorow no twetwe.
• Di awosu mu nkwaadɔm a ɛfa amemene ne nnompe nyin ho wɔ awotwaa no fã no so.

Ɔkwan bɛn so na nnuruyɛfo hu eyi?

Wobetumi ahu Timothy yare no ansa na wɔawo anaasɛ wɔawo akyi .

• Bere a wɔreyɛ ultrasound scan bere a akokoaa no da so ara wɔ awotwaa mu no , oduruyɛfo no bɛhwɛ sɛ akokoaa no koma bɔ sɛnea ɛsɛ anaa. Koma a ɛnyɛ ne kwan so a ɛbata Timothy syndrome ho ne koma a ɛbɔ brɛoo wɔ akokoaa no mu (fetal bradycardia) .
• Sɛ wɔwo akokoaa no wie a, wobetumi ayɛ `EKG` (Electrocardiogram) nhwehwɛmu de ahwɛ sɛnea akokoaa no koma yɛ adwuma.

Nea ɛka ho no, nhwehwɛmu ahorow yi nso boa ma wosi tebea yi so dua:

• Awosu mu nhwehwɛmu a wɔyɛ de hu awosu mu abɔde a ɛde sɛnkyerɛnne ahorow ba .
• Mfoninitwa nhwehwɛmu afoforo (sɛ nhwɛso no, MRI, CT scan, X-ray) .
• Koma ho oduruyɛfo bi a ɔhwɛ sɛnea koma no akwahosan te .
• Ntini ho ɔbenfo bi nhwehwɛmu a ɔyɛ de hwɛ sɛnea ntini ahorow no yɛ adwuma .
• Mogya mu nhwehwɛmu de hwɛ sɛ ebia sɛnkyerɛnne foforo bi wɔ hɔ anaa .

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Ade titiriw a wɔde wɔn adwene si so wɔ Timothy syndrome ayaresa mu ne sɛ wobedi sɛnkyerɛnne ahorow a ebetumi de nkwa ato asiane mu a ɛka koma no so :

• Nnuru a wɔde siw koma bɔ so (e.g. `beta-blockers`) .
• Sɛ wɔde cardioverter defibrillator (ICD) anaa afiri a ɛma koma no bɔ kɛse a wɔde ahyɛ nipadua mu bedi dwuma . Eyinom boa ma koma no san yɛ adwuma bio sɛ ​​ɛyɛ nea ɛnkɔ so pɛpɛɛpɛ mpofirim a.

Nea ɛka ho no, ayaresa ahorow bi wɔ hɔ a wɔde sa yare no ho sɛnkyerɛnne afoforo a ebetumi aka abofra no:

• Nnuru a ekum ɔyare mmoawa a wɔde ma de sa ɔyare mmoawa .
• Oprehyɛn a wɔde siesie honam ani a ɛbata nsateaa ntam no .
• Hwɛ asikre dodow a ɛwɔ wo mogya mu no so daa .
• Wɔde wɔn kɔ nhomasua titiriw nhyehyɛe ahorow mu na wɔaboa abofra no adesua mu nsɛnnennen ho .

So nsɛnnennen bi wɔ ayaresa no mu?

Mmofra a wɔwɔ Timothy yare no wɔ asiane kɛse mu sɛ koma no bɛbɔ denneennen na wɔanya koma mu nsɛnnennen bere a wɔde nnuru a wɔde kum nipadua no ma no . Eyi te saa titiriw wɔ nnuru a wɔde kum nipadua no a ɛma QT ntam kwan kyɛ no ho. Enti, ɛho hia sɛ wobɔ wo duruyɛfo amanneɛ wɔ eyi ho ansa na wɔayɛ wo oprehyɛn.

So wobetumi asiw Timothy Syndrome ano?

Timothy syndrome nyɛ biribi a wobetumi asiw ano ankasa.Efisɛ awosu mu nsakrae bi na ɛde eyi ba. Wubetumi anya no agyapade, anaasɛ ebetumi anyin mpofirim a abusua abakɔsɛm biara nni mu.

Nanso, sɛ woreyɛ nhyehyɛe anyinsɛn na wopɛ sɛ wuhu asiane a ɛwɔ hɔ sɛ wobɛwo abofra a ɔwɔ awosu mu yare te sɛ Timothy syndrome a, wubetumi ne wo duruyɛfo akasa afa awosu mu afotu ne awosu mu nhwehwɛmu ho .

Sɛ me ba no wɔ Timothy Syndrome a, dɛn na ɛba?

Wɔnnyaa saa tebea yi ano aduru biara , nanso ayaresa betumi atew abofra no yare no ho sɛnkyerɛnne a ɛde ne nkwa to asiane mu no so na ama n’asetra atu mpɔn .

Nkɔmhyɛ a ɛfa mmofra a wɔwɔ komayare a emu yɛ den ho no nyɛ papa . Esiane tebea horow te sɛ koma a ɛnyɛ den anaasɛ ventricular tachycardia nti, asiane a ɛwɔ hɔ sɛ obi bewu wɔ mmofraase no bɛyɛ 80% . Eyi yɛ awerɛhow sɛ yɛbɛte, nanso ɛho hia sɛ yehu nokware no.

Nanso, wɔ Timothy syndrome a emu nyɛ den pii mu no, ebia nea ebefi mu aba no bɛyɛ papa .

Wobɛyɛ dɛn ahwɛ abofra a ɔwɔ saa tebea yi?

Esiane sɛ Timothy yare no ho sɛnkyerɛnne betumi de ne nkwa ato asiane mu nti, ɛho hia sɛ wokɔ wo ba no oduruyɛfo nkyɛn daa hwɛ n’akwahosan nyinaa, titiriw ne koma akwahosan . Nhwehwɛmu a wɔyɛ no daa betumi aboa ma wɔahu sɛnkyerɛnne foforo biara ntɛm na wɔasa.

Sɛ wo ba no nkɔso kyɛ anaasɛ n’adesua mu haw a, nhomasua titiriw nhyehyɛe anaa ayaresa a ɛboa no betumi aboa wo ba no wɔ sukuu adwuma mu .

Bere bɛn na ɛsɛ sɛ mede me ba no kɔ oduruyɛfo nkyɛn? Dɛn na ɛsɛ sɛ woyɛ wɔ tebea a egye ntɛmpɛ mu?

Sɛ wo ba no wɔ Timothy syndrome ho sɛnkyerɛnne te sɛ ɔyare mmoawa, ɛyɛ den sɛ ɔbɛma ne nipadua mu hyew akɔ so ayɛ hyew, anaasɛ asikre a ne mogya mu yɛ den mpɛn pii , hwɛ hu sɛ wobɛkɔ oduruyɛfo nkyɛn.

Nsɛnkyerɛnne a emu yɛ den kɛse, te sɛ akisikuru ne koma a ɛbɔ a ɛnteɛ (titiriw sɛ koma no bɔ ntɛmntɛm anaasɛ ɛnbɔ daa a) , betumi de nkwa ato asiane mu na ehia sɛ wɔkɔ ayaresabea ntɛm ara . Sɛ eyi ba a, kɔ baabi a wɔhwɛ wɔn a wɔwɔ yare a egye ntɛmpɛ (ER) anaa frɛ 911.

Nsɛm bɛn na ɛsɛ sɛ wubisa wo ba oduruyɛfo?

Ɛyɛ papa sɛ wubebisa wo ba no oduruyɛfo nsɛm te sɛ eyinom:

• So nsunsuanso bɔne bi wɔ nnuru a wɔkyerɛw maa wo no so?
• So ɛsɛ sɛ wɔyɛ me ba oprehyɛn?
• So me ba no wɔ apɔwmuden a ɛsɛ sɛ wɔyɛ no oprehyɛn?
• Mɛyɛ dɛn ahwɛ me ba no yare no ho sɛnkyerɛnne ahorow so?

Awosu mu tebea bi a ɛntaa nsi ho dwuma a wobedi no betumi ayɛ den ama awofo foforo ne wɔn mma. Ɛho hia sɛ wohwɛ wo ba no akwahosan yiye, titiriw sɛ ebia ayaresa no redi yare no ho sɛnkyerɛnne ahorow so na ama bere dodow a wo ba no betumi ne wo adi no akɔ soro anaa. Bere a woredwen sɛnea wobɛhwɛ wo ba no ho no, susuw wo ho ne w’abusua ho. Ɛho hia nso sɛ wo ne adwenemyare ho ɔfotufo a ɔfata kasa na ama adwennwen ne dadwen so atew, na woasua sɛnea wubetumi aboa wo ba.

Kae saa nneɛma yi (Take-Home Message) .

Timothy syndrome yɛ awosu mu yare a ɛntaa nsi koraa, nanso ɛyɛ aniberesɛm.

• Hwɛ yiye bere nyinaa, efisɛ enya koma no so nkɛntɛnso titiriw .
• Ɛsono sɛnea yare no ho sɛnkyerɛnne wɔ abofra biara mu .
• Sɛ wohu abofra no ntɛm na wɔsa no yare yiye a, ebetumi ama n’asetra atu mpɔn.
• Ɛho hia yiye sɛ wubedi nnuruyɛfo afotu akyi na woanpa nhwehwɛmu a wɔayɛ ho nhyehyɛe no .
• Ɛnyɛ wo nko ara na woretu kwan yi. Nya mmoa fi nnuruyɛfo, afotufo, ne w’adɔfo hɔ .

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