So wowɔ hATTR Amyloidosis yare? Momma yensiesie yɛn ho mma wo duruyɛfo a edi kan a wobɛkɔ akɔhwɛ no

Ɛyɛ ade a ɛfata sɛ wobɛte ehu nka, w’adwene atu afra, na woanya nsɛmmisa pii bere a wuhu sɛ wowɔ tebea bi a ɛntaa nsi a wɔfrɛ no ‘ hATTR amyloidosis ’ no. Nsuro, sɛ edin no te sɛ nea ɛyɛ den kakra mpo a. Wɔ asɛm yi mu no, yɛbɛbɔ mmɔden sɛ yɛbɛkyerɛkyerɛ mu akyerɛ wo wɔ ɔkwan a ɛnyɛ den so. Titiriw sɛ eyi ne bere a edi kan a wobɛkɔ oduruyɛfo nkyɛn wɔ tebea yi ho a, yɛbɛka sɛnea wubetumi asiesie wo ho yiye ama no ho asɛm.

Sɛ yɛbɛka no tiawa a, dɛn ne hATTR Amyloidosis?

Sɛ yɛbɛka no tiawa a, ɛyɛ yare a wonya fi awo mu a nsakrae anaa nsakrae a ɛba awosu mu abɔde bi a wɔfrɛ no TTR mu wɔ yɛn nipadua mu na ɛde ba. Saa awosu mu nsakrae yi ma protein bi a ɛnteɛ a wɔfrɛ no amyloid ba yɛn nipadua mu.

Fa no sɛ nsu a ɛkɔ nsu mu a asiw, saa amyloid protein ahorow yi fi ase boaboa ano nkakrankakra wɔ akwaa a ɛho hia te sɛ yɛn koma, asaabo, ntini, ne aduan mu nhyehyɛe mu. Sɛ wɔhyehyɛ a, saa akwaa no ntumi nyɛ wɔn nnwuma a wɔtaa yɛ no yiye. Ɛno ne bere a sɛnkyerɛnne ahorow no fi ase da adi.

Wobɛyɛ dɛn asiesie wo ho ansa na woakɔ oduruyɛfo nkyɛn?

Ɛho hia yiye sɛ wubesiesie wo ho kakra ansa na woakɔ oduruyɛfo a edi kan nkyɛn. Hwɛ nneɛma yi yiye .

1. Hu w’abusua akwahosan ho abakɔsɛm pɛpɛɛpɛ

Eyi ne ade a ɛho hia sen biara. hATTR Amyloidosis yɛ yare a wonya fi awo mu. Wɔ aduruyɛ mu no, yɛfrɛ no ‘autosomal dominant’. Wei kyerɛ sɛ sɛ w’awofoɔ no mu baako wɔ gene mutation a ɛfa saa yareɛ yi ho a, wowɔ hokwan 50% sɛ wo nso wobɛnya bi.

Enti, sɛ wo maame, wo papa, wo nuanom, anaa wo mma wɔ saa yare yi a, nyansa wom sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu nhwehwɛmu ho, sɛ wunni sɛnkyerɛnne biara mpo a.

2. Fa sɔhwɛ amanneɛbɔ a wowɔ nyinaa ka wo ho.

Sɛ woayɛ awosu mu nhwehwɛmu dedaw, te sɛ mogya mu nhwehwɛmu anaa nnompe mu nhwehwɛmu, a ɛhwehwɛ TTR awosu mu abɔde no a, hwɛ hu sɛ wode saa amanneɛbɔ ahorow no nyinaa bɛba. TTR awosu mu nkwaadɔm mu nsakrae bɛboro 120 na ɛwɔ hɔ . Awosu mu nkwaadɔm mu nsakrae bi abu so kɛse wɔ mmusuakuw bi mu.

Nhwehwɛmu bɛn na oduruyɛfo no betumi ahyɛ sɛ wɔnyɛ?

Sɛ wususuw sɛ wowɔ saa yare yi anaasɛ woahu dedaw a, wo duruyɛfo no bedi kan ahwɛ wo yiye (nipadua mu nhwehwɛmu). Bio nso, wobetumi ahyɛ sɛ wɔnyɛ nhwehwɛmu a edidi so yi de si yare no so dua na wɔahwɛ sɛnea ɛrekɔ so:

• Biopsy : Eyi ne nhwehwɛmu a ɛho hia sen biara a wɔde si yare no so dua. Mpɛn pii no, eyi hwehwɛ sɛ wubeyi ntini ketewaa bi afi wo yafunu mu anaa baabi foforo na wode afiri a wɔde hwɛ nneɛma nketenkete ahwɛ mu ahwɛ sɛ amyloid bi wɔ hɔ anaa.
• Mogya ne nsu mu nhwehwɛmu: Saa nhwehwɛmu yi hwehwɛ protein pɔtee bi a ɛwɔ mogya anaa nsu mu a ebetumi akyerɛ yare yi.
• Scintigraphy: Eyi yɛ scan titiriw bi a wɔde hwɛ sɛ amyloid a ɛwɔ koma no mu no wɔ hɔ anaa.
• Koma no dwumadi a wɔbɛhwɛ : Sɛ wohu yare no wie a, wobetumi ayɛ mfonini te sɛ echocardiogram anaa koma MRI de ahu sɛnea wɔasɛe koma no kɛse.
• Ntini mu ntini mu nhwehwɛmu: Saa nhwehwɛmu ahorow yi boa ma wohu sɛ ebia ntini a asɛe anaa.

Oduruyɛfo no rebisa wo yare no ho sɛnkyerɛnne ahorow ho asɛm!

Akyinnye biara nni ho sɛ oduruyɛfo no bebisa wo sɛ, "Wo te nka dɛn?" Ɛho hia paa sɛ wobɛka sɛnkyerɛnne biara a ebia wowɔ ho asɛm kyerɛ no, nketewa mpo. Nea enti a ɛte saa ne sɛ saa yare yi tumi ka nipadua no afã horow pii. Sɛ wowɔ sɛnkyerɛnne ahorow a edidi so yi mu biara a, ka ho asɛm kyerɛ wo duruyɛfo.

Dɛn ne ayaresa ahorow a wɔde sa eyi?

Mfe pii a atwam ni no, na yare yi ano aduru biako pɛ ne mmerɛbo a wɔde ma obi foforo. Nea eye ne sɛ mprempren nnɛyi nnuru pii wɔ hɔ a ebetumi asiw sɛnea yare yi kɔ so ntɛmntɛm no so. Wo duruyɛfo no begyina nneɛma abiɛsa so apaw ayaresa:

1. Wo sɛnkyerɛnne ahorow

2. Akwaa a ɛka no

3. Yare no fã

Wɔakyekyɛ hATTR yare no mu ayɛ no afã atitiriw anan.

• Ɔfã 0: .TTR awosu mu nkwaadɔm mu nsakrae no wɔ hɔ, nanso sɛnkyerɛnne biara nni hɔ.
• Ɔfã I: Wubetumi anantew sɛnea ɛsɛ, nanso ntini mu sɛnkyerɛnne ahorow a emu nyɛ den te sɛ nan ne anan a ɛyɛ mmerɛw ne ɛyaw wɔ hɔ.
• Ɔfã II: Ɛhwehwɛ mmoa na ama obi anantew. Ntini mu yare no nso mu yɛ den kɛse wɔ nsa, nan, ne dua mu.
• Ɔfã III: Nsɛnkyerɛnne no mu yɛ den araa ma wɔde mmubuafo akongua anaa mpa so.

Akwan pii wɔ hɔ a wɔfa so sa yare:

• TTR gene silencers: Saa nnuru yi yɛ adwuma denam TTR protein a ɛde ɔhaw ba no a ɛtew so no so. Eyi ma amyloid a ɛtɔ gu fam no so tew. Nhwɛsoɔ: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)`.
• TTR stabilizers: Eyinom yɛ adwuma denam TTR protein no a esiw ano sɛ ɛnkyekyere yiye na ɛnyɛ amyloid deposits no so. Nhwɛsoɔ: `Tafamidis (Vyndamax, Vyndaqel)`.
• Amyloid fibril degraders: Saa nnuru yi boa ma wɔsɛe amyloid a ɛwɔ hɔ dedaw no. Eyinom mu pii da so ara wɔ nhwehwɛmu fã no mu.

So wode me bɛkɔ animdefo afoforo nkyɛn?

Aane. Esiane sɛ saa yare yi ka nipadua no afã horow nti, ebia wo duruyɛfo de wo bɛkɔ animdefo afoforo nkyɛn akɔsa yare no ho sɛnkyerɛnne ahorow.

• Koma ho ɔyaresafo: Wɔ koma a ɛyɛ den ne komayare ho sɛnkyerɛnne ahorow ho.
• Gastroenterologist: Wɔ tebea horow te sɛ akisikuru ne akisikuru ho.
• Urologist: Wɔ ɔhaw ahorow a ɛfa nsu a wɔde fa nsu mu ho .
• Aniwa ho oduruyɛfo: Wɔ aniwa mu haw ahorow ho.
• Nnompe ho ɔbenfo: Wɔ tebea horow te sɛ carpal tunnel syndrome ho.

Wo duruyɛfo nso ne wo bɛkasa afa yare no ho nkɔmhyɛ ho. Eyi betumi ayɛ nea efi mfe 3 kosi 15 wɔ bere a wɔahu yare no akyi. Nanso kae sɛ egyina awosu mu nkwaadɔm mu nsakrae pɔtee a wowɔ ne akwaa ahorow a ɛka no so. Bere a wɔreyɛ ayaresa foforo ho nhwehwɛmu bere nyinaa no, daakye ho anidaso wɔ hɔ.