So woate Pompe Yare ho asɛm pɛn? Momma yɛnka ho asɛm nkɔ akyiri!

So woate yare bi a ɛwɔ din a ɛyɛ nwonwa a wɔfrɛ no Pompe Yare ho asɛm pɛn? Ebia saa din yi yɛ ade foforo ma wo. Eyi ho yɛ na kakra ankasa, a ɛkyerɛ sɛ ɛnyɛ yare a ɛka obiara. Nanso ɛho hia yiye sɛ wubehu ho asɛm, efisɛ ɛyɛ awosu mu tebea, a ɛkyerɛ sɛ wɔde kɔ awo ntoatoaso ahorow mu. Eyi ma asikre bi a wɔfrɛ no `(glycogen)` boaboa ano wɔ yɛn nipadua mu nkwammoaa mu. Enti, ɛnnɛ yɛbɛka nea Pompe yare yi yɛ, sɛnea ɛkɔ so, nea ɛkyerɛ, ne so ayaresa bi ho asɛm kɛkɛ.

Dɛn ne Pompe Yare?

Sɛ yɛbɛka no tiawa a, Pompe yare yɛ awosu mu tebea bi a ɛka nyarewa a ɛkora glycogen so kuw no ho. Yɛn nipadua no wɔ enzyme bi a wɔfrɛ no `(acid alpha-glucosidase)` anaa `(GAA)`. Saa enzyme yi bubu asikre a ɛyɛ den `(glycogen)` a ɛwɔ yɛn nipadua mu no mu, kyerɛ sɛ, ɛyam, na ɛboa ma yɛnya ahoɔden. Enti, obi a ɔwɔ Pompe yareɛ no nnyɛ saa `(GAA)` enzyme yi yie, anaasɛ ɔwɔ mu kakraa bi pɛ.

Dɛn na ɛba saa bere no? Saa asikre a wɔfrɛ no `(glycogen)` no nsɛe yiye na ɛboaboa ano wɔ mmeae nketewa a wɔfrɛ no `(lysosomes)` mu wɔ nipadua no nkwammoaa mu. Susuw ho sɛ nwura kotoku, sɛ wɔannyi nwura no a, ɛbɛhyɛ ma. Saa `(lysosomes)` yi ne mmeae a wɔsan de nneɛma a ɛwɔ yɛn nkwammoaa mu no di dwuma bio, kyerɛ sɛ, wɔyɛ no sɛnea ɛbɛyɛ a wobetumi de adi dwuma bio. Enti, esiane sɛ saa `(GAA)` enzyme yi nnyɛ adwuma yiye nti, `(glycogen)` hyɛ ma wɔ saa `(lysosomes) yi mu. Saa kwan yi so no, `(glycogen)` boaboa ano kɛse wɔ yɛn koma ntini ne nnompe ntini mu. Sɛ ɛboaboa ano saa a, saa akwaa no sɛe na nkakrankakra fi ase brɛ ase.

Wɔsan frɛ saa yare yi sɛ:

• `(Pompe yareɛ)` (Pompe yareɛ) .
• `(Acid maltase a enni nipadua mu)` (Acid maltase a enni nipadua mu) .
• `(Glycogen a wɔkora so yareɛ type II (GSD2))` (Glycogen akoraeɛ yareɛ - type II)

Pompe yare ahorow atitiriw bɛn na ɛwɔ hɔ?

Wɔkyekyɛ Pompe yare no mu abien titiriw, na egyina mfe a obi adi ne sɛnea ne sɛnkyerɛnne ahorow no mu yɛ den so.

Pompe yare a efi ase wɔ nkokoaa mu

Eyi ne Pompe yare a emu yɛ den sen biara. Saa tebea yi ba bere a enzyme (acid alpha-glucosidase (GAA)) no nni hɔ koraa anaasɛ ɛwɔ hɔ kakraa bi pɛ no. Ɛtɔ da bi a, ebia akokoaa no renkyerɛ yare no ho sɛnkyerɛnne biara wɔ n’awo mu. Nanso, mpɛn pii no, sɛnkyerɛnne ahorow no fi ase da adi wɔ nkwa afe a edi kan no mu, mpɛn pii no bɛyɛ asram 4.

Saa mmofra yi ntini mu mmerɛwyɛ kɛse , wɔn mmerɛbo ayɛ kɛse, na wɔn koma ayɛ kɛse esiane koma ntini a ɛyɛ mmerɛw (cardiomyopathy) nti. Yare no kɔ so yɛ den yiye. Sɛ wɔansa mmofra yi yare yiye a, komayare anaa ɔhome a entumi nyɛ adwuma yiye betumi awuwu wɔ afe biako anaa abien ntam. Eyi yɛ tebea a ɛyɛ awerɛhow paa.

Pompe yare a efi ase akyiri yi

Pompe yare yi betumi aba wɔ mfe biara mu. Ebetumi ada adi ansa na wadi afe, nanso koma no ntrɛw (a ɛyɛ ade a ɛda nsow wɔ yare no ho wɔ nkokoaabere mu), anaasɛ ebetumi ada adi wɔ mmofraase, mmerantebere ne mmabaabere, anaa mpanyin afe mpo mu. Saa nnipa yi wɔ enzyme ``(GAA)`` a ɛba fam, nanso ɛnyɛ nea ɛba fam te sɛ nkokoaa mu.

Mpɛn pii no, saa ɔkwan yi yɛ mmerɛw na ɛnyɛ den pii sen nkokoaa de no, nanso egyina mfe a yare no ho sɛnkyerɛnne fi ase so. Mmofra a wonya yare no ho sɛnkyerɛnne wɔ wɔn mmofraase no betumi anya tebea a emu yɛ den kɛse.

Nsɛnkyerɛnne titiriw ne ntini mu mmerɛwyɛ (`(myopathy)`). Eyi betumi ama ayɛ den sɛ ɔbɛhome. Nanso, ɛnyɛ den koraa sɛ ɛbɛka koma no. Sɛ wɔansa a, ɔhome mu nsɛnnennen betumi ama obi awu.

Pompe yare no abu so dɛn?

Pompe yare yɛ awosu mu yare a ɛntaa nsi koraa ankasa . Sɛ nhwɛso no, wɔ United States no, yare yi ba bɛyɛ nnipa 40,000 biara mu biako so. Wɔ Sri Lanka no, ɛyɛ den sɛ wobenya eyi ho akontaabu pɔtee, nanso ɛda adi pefee sɛ eyi yɛ yare a wɔntaa nhu.

Dɛn ne Pompe yare no ho sɛnkyerɛnne?

Pompe yare no ho sɛnkyerɛnne titiriw ne ntini a ɛyɛ mmerɛw nkakrankakra , titiriw wɔ asen, nan, mmati, abasa, ne diaphragm, ntini kɛse a ɛda koko ne yafunu ntam no mu.

Pompe ho sɛnkyerɛnne wɔ nkokoaabere mu:

• Ebia ntini ahorow no ayɛ mmerɛw, na entumi nyɛ den (hypotonia). Nipadua no betumi ayɛ te sɛ nea ɛyɛ mmerɛw, te sɛ "akokoaa a ɛyɛ mmerɛw".
• Koma no mu ntrɛwmu (`(cardiomegaly)`) .
• Mmɛn a ayɛ kɛse (`(hepatomegaly)`) .
• Tɛkrɛma a ayɛ kɛse (macroglossia) .
• Failure to thrive (`ntumi nnya nkɔso`). Eyi kyerɛ sɛ akokoaa no mu duru nnkɔ soro yiye anaasɛ onnyin nkɔ akyiri.
• Ɔhome a ɛyɛ den.
• Ɛyɛ den sɛ wubedi nufusu na woanom.
• Ɔhome mu nyarewa a ɛtaa ba (e.g. ahurututu mu yare).
• Aso a ɛyɛ mmerɛw.

Pompe a ɛkyɛ fi ase ho sɛnkyerɛnne:

Ebia saa sɛnkyerɛnne ahorow yi nyɛ den na bere kɔ so no, ɛyɛ kɛse. Nanso, wobetumi de mmerɛwyɛ kɛse ne ɔhome mu ahokyere nso aba.

• Ntini a ɛwɔ nan ne dua no mu a ɛyɛ mmerɛw nkakrankakra.
• Ɛyɛ den sɛ wobɛnantew, ɔtaa hwe ase.
• Ɛyaw a ɛba nipadua no afã horow, titiriw wɔ ntini mu.
• Apɔw-mu-teɛteɛ, mmirikatu, ne ahuruhuruw a wɔhwere.
• Ɔhome mu nyarewa a wɔtaa nya.
• Ɔhome a ɛyɛ den (dyspnea) bere a wabrɛ kakra no.
• Ti a ɛyɛ yaw anɔpa.
• Ɔbrɛ a ɛtra so a wɔte nka awiabere.
• Mu duru a wɔtew so a wɔanhyɛ da.
• Aduan a ɛyɛ den sɛ wobɛmene (dysphagia).
• Koma mu nnyigyei a ɛnkɔ so pɛpɛɛpɛ (`(arrhythmia)`).
• Nkakrankakra sɛnea obi te asɛm no so tew.

Dɛn na ɛde Pompe yare ba?

Pompe yare no fi nkwaadɔm mu nsakrae a ɛba awosu mu nkwaadɔm `(GAA)` mu. Saa `(GAA)` gene yi na ɛyɛ enzyme `(acid alpha-glucosidase)` a yɛadi kan aka ho asɛm no. Saa enzyme yi bubu asikre a ɛyɛ den `(glycogen)` no mu.

Mpɛn pii no, yɛn nipadua dan saa `(glycogen)` yi ma ɛbɛyɛ `(glucose)`, a wɔde yɛ ahoɔden. Enzyme `(Acid alpha-glucosidase)` yɛ adwuma wɔ mmeae a wɔfrɛ no `(lysosomes)` wɔ yɛn nkwammoaa mu. Susuw saa `(lysosomes)` yi ho sɛ mmeae a wɔsan de nneɛma di dwuma wɔ yɛn nkwammoaa mu. Enzymes bubu nneɛma ahorow na ɛkyerɛ wɔn kwan ma wɔyɛ adwuma foforo ma nipadua no, sɛ nhwɛso no, ɛma ahoɔden.

Enti, sɛ wowɔ Pompe yare a, nkwaadɔm mu nsakrae a ɛba `(GAA)` awosu mu abɔde mu no ma enzyme `(acid alpha-glucosidase)` a wɔyɛ no so tew anaasɛ enni hɔ koraa. Sɛ saa enzyme yi nni hɔ a, wo nipadua no ntumi nsɛe `(glycogen)` yiye. Afei `(glycogen)` boaboa ano wɔ saa `(lysosomes)` no mu, na ɛde ntini a ɛsɛe kɛse. Eyi ne ade titiriw a ɛde sɛnkyerɛnne ahorow no ba.

Wonya saa yare yi fi awo mu wɔ autosomal recessive kwan so. Eyi kyerɛ sɛ ɛsɛ sɛ w’awofo baanu nyinaa de awosu mu nkwaadɔm a wɔayɛ no foforo no ma wo. Mpɛn pii no, awofo no yɛ wɔn a wɔde yare no kɔ nkutoo, a ɛkyerɛ sɛ wɔnkyerɛ yare no ho sɛnkyerɛnne biara. Nanso wɔwɔ awosu mu abɔde a wɔayɛ no foforo no.

Dɛn ne Pompe yare no ho nsɛnnennen?

Sɛ wɔansa a, Pompe yare a efi ase wɔ mmofraase no betumi akum obi wɔ mmofraase. Nnipa pii a wɔwɔ Pompe yare no nya ɔhome ne koma mu haw. Ɛkame ayɛ sɛ ayarefo nyinaa nya ntini mu mmerɛwyɛ. Wɔ wɔn asetra mu bere bi mu no, ebia nnipa pii behia oxygen a ɛboa ne mfiri a ɛboa ma nneɛma te sɛ nantew.

Ɔkwan bɛn so na wohu Pompe yare no?

Wo duruyɛfo bedi kan ahwɛ wo nipadua mu na wabisa w’abusua aduruyɛ ho abakɔsɛm. Afei, wɔbɛfa mogya na wɔasɔ enzyme bi a wɔfrɛ no ``creatine kinase`` ahwɛ. Eyi betumi aboa ma wɔahu sɛ ebia ntini ahorow asɛe anaa. Sɔhwɛ pɔtee bi ne sɛ wobɛsusu enzyme ``(GAA)`` a ɛwɔ wo mogya mu no dwumadi. Wubetumi nso anya ``Genetic testing`` anaa genetic testing de asua ``(GAA)`` gene a ɛwɔ wo nipadua mu.

Bio nso, wobetumi ayɛ sɔhwɛ ahorow a edidi so yi:

• Ahurututu mu dwumadi ho nhwehwɛmu : Eyinom susuw tumi a ahurututu no tumi yɛ.
• Electromyography (EMG) : Eyi kyerɛ sɛnea wo ntini ahorow reyɛ adwuma yiye.
• Koma mu nhwehwɛmu : Eyi betumi ayɛ nhwehwɛmu te sɛ electrocardiogram (EKG) ne echocardiogram (echo).
• Dae ho nhwehwɛmu : Saa sɔhwɛ ahorow yi kyerɛw nipadua no dwumadi ahorow bi bere a woada no.

Ɔkwan bɛn so na wɔsa Pompe yare no?

Pompe yare no ano aduru titiriw neEnzyme a Wɔde Si Ananmu (ERT) . Wɔ eyi mu no, wo duruyɛfo de nnuru a edidi so yi mu biako fa ntini mu ma wo:

• `(Alglucosidase alfa)`
• `(Avalglucosidase alfa)`

Saa nnuru yi yɛ enzyme ahorow a wɔayɛ no foforo a ɛyɛ adwuma te sɛ enzyme ahorow a ɛwɔ yɛn nipadua mu fi awosu mu no ara pɛ. Saa ayaresa yi:

• Ɛboa ma koma no kɛse so tew.
• Ɛboa ma koma no yɛ adwuma sɛnea ɛsɛ.
• Ɛboa ma ntini no yɛ adwuma, ahoɔden, na ɛyɛ den, anaasɛ ɛma yare no kɔ so brɛoo.
• Ɛtew glycogen dodow a wɔkora so wɔ nipadua no mu no so.

Nea ɛka ho no, animdefo kuw bi bɛsa w’ankorankoro yare no ho sɛnkyerɛnne na wɔde ɔhwɛ a ɛho hia ama wo. Ebia kuw yi bi ne:

• Apɔw-mu-teɛteɛ ho animdefo, adwumayɛ ho ayaresa ho animdefo, ne ɔhome ho ayaresa ho animdefo
• Koma ho aduruyɛfo
• Ntini mu yare ho animdefo

Ɛdenam sɛnea wo tebea no mu yɛ den so no, ebia wubehia sɛ:

• Apɔw-mu-teɛteɛ anaa adwuma mu ayaresa.
• Tube a wɔde ma aduan (`(feeding tube)`).
• Ɔhome mmoa a wɔde nsa ayɛ (`(mfiri a wɔde ma mframa)`).

Mprempren nyansahufo reyɛ awosu mu nkwaadɔm a wɔde sa Pompe yare no ho sɔhwɛ ahorow wɔ ayaresabea. Nea ɛka awosu mu nkwaadɔm a wɔde sa yare ho ne sɛ wɔde awosu mu nkwaadɔm a asɛe besi nea ɛwɔ apɔwmuden ananmu. Eyi ma wo nipadua no tumi yɛ enzyme acid alpha-glucosidase no yiye. Eyi yɛ daakye ho anidaso kɛse.

So wobetumi asiw Pompe yare ano?

Pompe yare yɛ awosu mu tebea, enti wontumi nsiw ano . Nanso, sɛ woanyinsɛn anaasɛ woreyɛ nhyehyɛe sɛ wubenyinsɛn a, ɛbɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu afotu ho . Eyi bɛboa wo ma woasua eyi ho ade pii na sɛ ɛho hia a, woasɔ wo ahwɛ.

Pompe yare no nkwa nna te dɛn?

Sɛ wɔanhu yare no na wɔansa no ntɛm a, mmofra a wɔwɔ Pompe yare wɔ nkokoaabere mu no taa wuwu wɔ wɔn mmofraase esiane ɔhome mu haw anaa koma a entumi nyɛ adwuma yiye nti.

Ebia nnipa a wɔwɔ Pompe yare a efi ase akyiri yi no bɛtra ase akyɛ efisɛ yare no kɔ so nkakrankakra. Nanso, eyi gyina mfe a yare no ho sɛnkyerɛnne fi ase ne sɛnea yare no mu yɛ den so. Mpɛn pii no, dodow a mfe a yare no ho sɛnkyerɛnne fi ase no nyin no, dodow no ara na yare no kɔ so brɛoo.

Bere bɛn na ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn?

Sɛ wo anaa wo ba wɔ Pompe yare no ho sɛnkyerɛnne a, ɛsɛ sɛ wokɔ oduruyɛfo nkyɛn ntɛm ara . Sɛ wohu yare no ntɛm a, ebetumi ama mmofra ne mpanyimfo a wɔwɔ saa yare yi asetra atu mpɔn kɛse.

Ɔkwan bɛn so na me anaa me ba no de saa tebea yi hwɛ wɔn ho?

Sɛ wo anaa wo ba wɔ Pompe yare a, susuw ho sɛ wo ne adwene ho ɔbenfo bɛkasa. Adwene ne nneyɛe ho ɔbenfo betumi aboa wo ma woate tebea no ase yiye na waboa wo ma woagyina ano yiye. Mmoa akuo nso wɔ hɔ a wobɛtumi ahyia nnipa foforɔ a wɔrefa tebea a ɛte saa ara mu na woakyɛ suahunu.

Mpɛn pii no, wɔn a wɔhwɛ wɔn no betumi anya ɔbrɛ anaa adwennwen a ɛboro so (ɔhwɛfo brɛ anaasɛ ɔhyew). Eyi yɛ ade a ɛfata, nanso ɛho hia sɛ wohwɛ wo ho ne wo ba no nso.

Dɛn na ɛsɛ sɛ mibisa nnuruyɛfo fa Pompe yare no ho?

Sɛ wo anaa wo ba nya Pompe yare a, ebia wobɛpɛ sɛ wubisa wo duruyɛfo nsɛm te sɛ:

• Pompe yare bɛn na me ba no wɔ?
• Dɛn na wubetumi aka afa me ba nkwa nna ho?
• Abenfo bɛn na ɛsɛ sɛ yɛkɔ wɔn nkyɛn?
• Mpɛn ahe na ɛsɛ sɛ mekɔhwɛ saa nnuruyɛfo atitiriw yi?
• Dɛn na metumi ayɛ na ama me ba no ho atɔ no?
• So ɛyɛ adwene pa sɛ wobɛma wɔayɛ awosu mu nhwehwɛmu ama abusua no mufo afoforo nso?
• Mɛyɛ dɛn asua sɛ mɛtra ase yiye wɔ Pompe yare no ho?

Sɛ wo anaa wo ba wɔ Pompe yareɛ a, bisa wo duruyɛfoɔ fa sɛ wobɛkɔ akɔka kuw bi a wɔboa no ho. Wo suahu ahorow a wobɛka na woasua biribi afi afoforo hɔ no betumi aboa wo kɛse na akyekye wo werɛ. Kae sɛ ɛnyɛ wo nko ara. Ɛwom sɛ wonni Pompe yare ano aduru biara de, nanso nyansahufo kɔ so reyɛ ayaresa ho nhwehwɛmu. Nnuruyɛfo resua nnuru pii a etu mpɔn a ebetumi aboa ma woasiw yare no ho sɛnkyerɛnne ahorow a ɛtrɛw so na ama wo ba no asetra atu mpɔn ho ade.

Nkrasɛm a Wɔde Kɔ Fie

Sɛ yɛde rewie a, Pompe yare yɛ yare a ɛntaa nsi, a efi awosu mu. Ɛma ntini ahorow no yɛ mmerɛw titiriw. Ɛwɔ ahorow abien, nea efi ase wɔ nkokoaa mu ne nea efi ase akyiri yi. Sɛ wohu yare no ntɛm na wɔsa yare te sɛ Enzyme Replacement Therapy (ERT) ho hia yiye. Nnipa a wɔte saa yare yi ne wɔn mmusua betumi anya adwene mu mmoa ne mmoa akuw so mfaso kɛse. Bere a nhwehwɛmu kɔ so wɔ ayaresa foforo ho no, daakye ho anidaso wɔ hɔ. Sɛ wowɔ nsɛmmisa bi fa eyi ho a, ntwentwɛn wo nan ase sɛ wo ne oduruyɛfo bɛkasa.

` Pompe yare, glycogen akorae yare, acid alpha-glucosidase, GAA enzyme, ntini mu mmerɛwyɛ, enzyme a wɔde si ananmu ayaresa, awosu mu ɔhaw, Pompe a efi ase wɔ nkokoaa mu, Pompe a efi ase akyiri yi, lysosomal akorae yare