So wo ntini mu yaw bere a woateɛteɛ w’apɔw mu kakra mpo? Eyi betumi ayɛ McArdle Yare!

Ɛtɔ mmere bi a wo nso wote yaw na woyɛ mmerɛw bere a woteɛteɛ w’apɔw mu anaa woyɛ biribi a egye mmɔdenbɔ kakra no, ɛnte saa? Ɛno yɛ ade a ɛfata. Nanso wɔ nnipa binom fam no, tebea yi boro so kakra. Sɛ woyɛ biribi ketewaa bi mpo a, ɛma wobrɛ ntɛm, na wo ntini mu yɛ wo yaw na ɛyɛ den. Ɛnnɛ yɛrebɛka tebea bi a ɛntaa nsi nanso ɛho hia yiye a ɛsɛ sɛ yɛma yɛn ani da hɔ ho asɛm. Wɔfrɛ eyi McArdle yare, anaa `glycogen storage disease type 5 (GSD5)`.

Dɛn ne McArdle Yare?

Sɛ yɛbɛka no tiawa a, McArdle yare no yɛ awosu mu yare a ɛkɔ so wɔ yɛn mmusua mu . Ɛka wo nnompe ntini titiriw . Ɛne sɛ, ntini a yɛde di akɔneaba, ma nneɛma so, na yɛnantew.

Saa yare yi fi enzyme soronko bi a enni yɛn ntini mu a wɔfrɛ no `muscle glycogen phosphorylase` anaa `myophosphorylase` a enni hɔ anaasɛ enni hɔ koraa . Sɛ saa enzyme yi nni hɔ koraa a, yɛn ntini no ntumi nyɛ ahoɔden a ɛho hia no. Ɛno nti na sɛnkyerɛnne te sɛ ntini mu yaw, yɛn ho a ɛyɛ den, ne ɔbrɛ da adi bere a yɛreyɛ apɔw-mu-teɛteɛ anaa bere a yɛabrɛ no.

Mpɛn pii no, sɛnkyerɛnne ahorow no fi ase da adi bere a wɔadi mfe 15-20 akyi, anaasɛ wɔ mfe 20 anaa 30 mu . Nanso, ɛtɔ mmere bi a ebetumi ada adi wɔ mfe biara mu. Wɔde Oduruyɛfo Brian McArdle a odii kan bɔɔ ho amanneɛ wɔ afe 1951 mu no din too yare no "McArdle".

Saa yare yi abu so dɛn?

McArdle yare no yɛ tebea a ɛntaa nsi koraa ankasa . Sɛnea nhwehwɛmufo kyerɛ no, ɛka nnipa 50,000 biara mu biako kosi 200,000 biara mu biako wɔ United States.

Dɛn ne sɛnkyerɛnne ahorow no?

Yare yi ho sɛnkyerɛnne betumi ayɛ soronko koraa wɔ onipa biara ho. Ebia nnipa binom benya yare no ho sɛnkyerɛnne a emu nyɛ den koraa, bere a afoforo nso betumi aka wɔn kɛse.

Nsɛnkyerɛnne titiriw ne nea ɛtaa ba ne apɔw-mu-teɛteɛ a wontumi nnyina ano, a ɛkyerɛ sɛ ɔbrɛ ntɛmntɛm bere a woreyɛ apɔw-mu-teɛteɛ no . Nsɛnkyerɛnne afoforo ne:

• Ntini mu akisikuru
• Mrɛyɛ
• Ɔbrɛ
• Ntini mu yaw
• Ntini a ɛyɛ den

Saa sɛnkyerɛnne ahorow yi nyinaa betumi ada adi bere a wufi ase teɛteɛ w’apɔw mu ara pɛ. Nanso mpɛn pii no wɔbrɛ ase bere a wɔagye wɔn ahome bere tiaa bi akyi . Nea ɛyɛ nwonwa no, nnipa binom hu sɛ bere a mfiase no wɔte nka sɛ wɔabrɛ akyi no, sɛ wɔhome kakra na afei wɔsan yɛ apɔw-mu-teɛteɛ koro no ara a, wobetumi ayɛ no yiye sen kan no. Wɔfrɛ eyi "mframa a ɛto so abien." Ɛte sɛ nea woanya mframa a ɛto so abien. Sɛ woanteɛteɛ w’apɔw mu a, mpɛn pii no wonte yare no ho sɛnkyerɛnne biara nka.

Ebia wubetumi ayɛ apɔw-mu-teɛteɛ a emu nyɛ den na ɛyɛ brɛoo, te sɛ nantew wɔ asase a ɛso yɛ toro so, a ɔhaw biara nni ho. Nanso, apɔw-mu-teɛteɛ a emu yɛ den betumi de yare no ho sɛnkyerɛnne aba ntɛm. Titiriw no, apɔw-mu-teɛteɛ a ɛfa sɛ wobɛkura ntini no mu a wunhinhim, te sɛ isometric apɔw-mu-teɛteɛ , wo ho a wobɛbɔ wo nan ase, na woagyina wo nansoaa so no betumi asɛe ntini no. Susuw sɛnea wote nka bere a woma gas cylinder so anaasɛ woso bag a emu yɛ duru no ho hwɛ.

Eyi betumi de ɔhaw ahorow a emu yɛ den aba? (Nsɛnnennen a ɛba) .

Yiw, ɛtɔ mmere bi a ɔhaw ahorow a anibere wom betumi aba. Nnipa a wɔwɔ McArdle yare no mu bɛyɛ fã nya tebea bi a wɔfrɛ no `rhabdomyolysis` bere a wɔateɛteɛ wɔn apɔw mu denneennen akyi . Eyi ne bere a ntini no mu paapae.

Rhabdomyolysis yɛ tebea a emu yɛ den a ɛde nkwa to asiane mu a ebetumi ama asaabo adi huammɔ mpofirim (asaabo a entumi nyɛ adwuma yiye) na potassium dodow a ɛyɛ hu wɔ mogya mu (hyperkalemia).

Enti, ɛsɛ sɛ wohwɛ yiye paa wɔ sɛnea woteɛteɛ w’apɔw mu ne sɛnea woyɛ den no ho. Eyi bɛboa ma wɔasiw tebea `rhabdomyolysis` ano. Sɛ wuhu sɛnkyerɛnne biara te sɛ ntini a ɛho ahonhon, nsu a ɛyɛ tuntum (biribiri, kɔkɔɔ, tii kɔla) , ɛsɛ sɛ wohwehwɛ aduruyɛfo afotu ntɛm ara .

Dɛn nti na eyi rekɔ so? Dɛn ne nea enti a ɛte saa?

McArdle yare yɛ awosu mu tebea bi . Titiriw no, ɛnam nkwaadɔm mu nsakrae a ɛba wɔ awosu mu abɔde mu nkwaadɔm `PYGM` mu. Mpɛn pii no, saa `PYGM` gene yi kyerɛ yɛn nipadua sɛ yɛnyɛ enzyme bi a wɔfrɛ no `myophosphorylase`.

Saa enzyme yi wɔ yɛn nnompe mu ntini nkwammoaa mu nkutoo. Ɛpaapae glycogen (asikre a wɔde asie) a ɛwɔ ntini no mu ma ɛyɛ glucose-1-phosphate. Afei wɔsan dan saa glucose-1-phosphate yi ma ɛbɛyɛ glucose. Glucose ne yɛn nipadua no ahoɔden fibea titiriw . Sɛ yɛteɛteɛ yɛn apɔw mu a, yɛn ntini de saa glucose yi pii di dwuma.

Afei, sɛ `myophosphorylase` enzyme no nyɛ kɛse anaasɛ wɔnyɛ koraa esiane nsakrae a ɛba `PYGM` awosu mu abɔde mu nti a, yɛn ntini nkwammoaa no ntumi nsɛe `glycogen` yiye na ɛnyɛ ahoɔden (`glucose`). Ɛno nti na ntini no brɛ ntɛmntɛm no.

Ɛde besi nnɛ no, nhwehwɛmufo ahu nsakrae ahorow (nsonsonoe) 179 a ɛka `PYGM` awosu mu abɔde no.

Sɛnea McArdle yare no nya fi awo mu

Wonya yare no fi w'awofo a wɔwoo wo no hɔ, wɔ ``autosomal recessive`` nhyehyɛe mu . Sɛ yɛbɛka no tiawa a, ɛsɛ sɛ awofo baanu no nyinaa yɛ ``abɔde mu nkwaadɔm a wɔasesa no ``kurafo``, a ɛkyerɛ sɛ wɔn baanu nyinaa wɔ awosu mu abɔde a ɛbɛn wɔn.Mpɛn pii no, wɔn a wɔde yare no kɔ no nkyerɛ yare no ho sɛnkyerɛnne. Nanso, sɛ awofo baanu no nyinaa yɛ awofo na wɔn baanu nyinaa de awosu mu abɔde a wɔasesa no kɔma wɔn mma a, yare no bɛba.

Ɔkwan bɛn so na nnuruyɛfo hu eyi? (Nyare a Wɔahu) .

Nnuruyɛfo de abasa a wɔde yɛ apɔw-mu-teɛteɛ mu nhwehwɛmu titiriw di dwuma de hu yare yi. Nea ɛka eyi ho ne sɛ wobɛfa mogya ansa na wode w’abasa ayɛ apɔw-mu-teɛteɛ kakra ne bere a woawie no. Ne titiriw no, wɔhwɛ sɛnea `lactic acid` ne `ammonia` dodow te .

Mpɛn pii no, ɛsɛ sɛ lactic acid dodow kɔ soro bɛyɛ mmɔho abiɛsa wɔ apɔw-mu-teɛteɛ akyi. Nanso, sɛ wo lactic acid dodow ankɔ soro wɔ sɔhwɛ yi mu a, ɛyɛ sɛnkyerɛnne a ɛkyerɛ sɛ ebia wowɔ McArdle yare no.

Nhwehwɛmu afoforo wɔ hɔ a ebetumi aboa ma wɔasi yare yi so dua:

• Creatine kinase (CK) mogya mu nhwehwɛmu: Sɛ ntini no sɛe a, enzyme bi a wɔfrɛ no creatine kinase (CK) boaboa ano wɔ mogya no mu. Ebia nnipa a wɔwɔ McArdle yare no wɔ CK a ɛkɔ soro bere nyinaa.
• Graded exercise stress test: Eyi betumi asɔ adeyɛ a wonim no sɛ "mframa a ɛto so abien" ahwɛ. Oduruyɛfo no bɛma woateɛteɛ w’apɔw mu kakraa bi, agye w’ahome wɔ ntam, na wahwɛ sɛ wubetumi ayɛ apɔw-mu-teɛteɛ no yiye wɔ ahomegye no akyi anaa.
• Muscle biopsy: Wɔ sɔhwɛ yi mu no, oduruyɛfo bi fa wo nnompe mu ntini ketewaa bi de kɔ lab ma wɔde afiri a wɔde hwɛ nneɛma nketenkete hwɛ. Ɔyare ho ɔbenfo bi hwɛ ntini no mu hwɛ sɛ ebia McArdle yare no ho sɛnkyerɛnne bi wɔ hɔ anaa.
• Awosu mu nhwehwɛmu: Ebia eyi betumi ahu awosu mu nsakrae pɔtee a ɛde McArdle yare ba.

Dɛn na yebetumi ayɛ wɔ eyi ho? (Ayaresa)

Nea ɛyɛ awerɛhow no, wonni aduru biara a wɔde bɛsa McArdle yare no. Ayaresa titiriw ne sɛ wobɛkwati dwumadi ahorow a ɛma wo yare no ho sɛnkyerɛnne no mu yɛ den. Nanso, sɛ worenyɛ apɔw-mu-teɛteɛ biara koraa a, ɛnyɛ papa mma w’akwahosan nso.

Nhwehwɛmu ada no adi sɛ apɔw-mu-teɛteɛ ayaresa a emu yɛ den a ɛkɔ fam, a wɔahyɛ da ayɛ no betumi ayɛ nea mfaso wɔ so ama nnipa a wɔwɔ McArdle yare no. Nnipa a wɔyɛ apɔw-mu-teɛteɛ a ɛte sɛɛ no ​​atew apɔw-mu-teɛteɛ a wontumi nnyina ano no so kɛse, na wobetumi nso anya saa "mframa a ɛto so abien" no ntɛmntɛm bere a wɔreyɛ apɔw-mu-teɛteɛ no. Wubetumi ne wo duruyɛfo ne apɔw-mu-teɛteɛ ho ɔyaresafo ayɛ adwuma de ahwehwɛ apɔw-mu-teɛteɛ ayaresa nhyehyɛe a eye sen biara ama wo.

Afei nso, aduan a carbohydrates pii womNhwehwɛmu ahorow kyerɛ sɛ sɛ obi nom a, ebetumi atew sɛnkyerɛnne ahorow a ɛba bere a wɔreyɛ apɔw-mu-teɛteɛ no so. Eyi boa wo ntini ma ɛde glucose (asikre) a ɛwɔ wo mogya mu di dwuma sen sɛ wode glycogen bedi dwuma de anya ahoɔden. Wo duruyɛfo anaa aduan ho ɔbenfo a wɔakyerɛw ne din betumi akamfo aduan ho nhyehyɛe te sɛ eyi akyerɛ:

• Ɛsɛ sɛ wo da biara da calories 65% fi carbohydrates a ɛyɛ den (efi nneɛma te sɛ nhabannuru, nnuaba, paanoo, pasta, ne aburow mu).
• Calories a efi srade mu no 20% .
• Calories a efi protein mu no 15% .

Ebetumi aboa nso sɛ wobɛnom asikre a ɛnyɛ den te sɛ agumadi mu anonne a asikre wom bere tiaa bi ansa na woateɛteɛ w’apɔw mu.

Ɛyɛ dɛn na wo ne eyi bɛtra ase?

Nnipa dodow no ara a wɔwɔ McArdle yare no tra ase sɛnea ɛsɛ . Nnipa binom betumi anya mmerɛwyɛ ne ntini a wɔsɛe no (`atrophy`) akyiri yi wɔ wɔn asetra mu, mpɛn pii no wɔ wɔn mfe 60 anaa 70 mu.

Adeɛ a ɛho hia paa ne sɛ wobɛhunu `rhabdomyolysis` tebea a yɛadi kan aka ho asɛm no ho nsɛnkyerɛnneɛ na wɔasiw ano sɛdeɛ ɛbɛyɛ yie, ɛfiri sɛ ɛno ne yareɛ yi mu ɔhaw titire.

Obi a ɔwɔ saa yare yi nkwa nna yɛ dɛn?

Mpɛn pii no McArdle yare no nka nkwa nna .

Nanso, ɛntaa nsi koraa sɛ tebea bi wɔ hɔ a wɔfrɛ no `infantile McArdle syndrome` , a ɛkame ayɛ sɛ ɛda adi wɔ awo akyi pɛɛ. Eyi di awu – yare no ho sɛnkyerɛnne no mu yɛ den na ɛyɛ kɛse ntɛmntɛm.

So wobetumi asiw McArdle yare no ano?

Esiane sɛ eyi yɛ awosu mu tebea nti, biribiara nni hɔ a yebetumi ayɛ de asiw ano .

Sɛ asiane a ɛwɔ hɔ sɛ wubenya McArdle yare anaa awosu mu nyarewa afoforo ansa na woawo no haw wo a, ɛbɛyɛ papa sɛ wo ne wo duruyɛfo bɛkasa afa awosu mu afotu ho .

Bere bɛn na ɛsɛ sɛ mekɔ oduruyɛfo nkyɛn?

Sɛ wo sɛnkyerɛnne no mu yɛ den, anaasɛ sɛnea wotumi yɛ apɔw-mu-teɛteɛ a wotaa yɛ no sesa a, kɔ wo duruyɛfo nkyɛn.

Ebia ɛho behia nso sɛ wokɔ apɔw-mu-teɛteɛ ho ɔyaresafo ne/anaasɛ aduan ho ɔbenfo nkyɛn daa kɔhwehwɛ akwankyerɛ wɔ w’ayaresa nhyehyɛe no ho.

Bere bɛn na ɛsɛ sɛ wokɔ Emergency Treatment Unit (ETU) ?

Sɛ wowɔ `rhabdomyolysis` ho sɛnkyerɛnne a, ɛsɛ sɛ wokɔ baabi a wɔhwɛ wɔn a wɔwɔ yare a egye ntɛmpɛ (ETU) ntɛm ara sɛnea wubetumi . Nsɛnkyerɛnne no ne:

• Ntini a ɛho ahonhon
• Ntini mu mmerɛwyɛ
• Ɛyaw ne ɛyaw bere a wɔde wɔn nsa ka ntini no
• Nsu a ɛyɛ tuntum (biribiri, kɔkɔɔ, tii kɔla) .
• Nsu a ɛho ntew
• Nsu a wɔtow gu so tew
• Abofono
• Nhumu a wɔhwere

McArdle yare no betumi ama ayɛ den sɛ wɔbɛyɛ apɔw-mu-teɛteɛ bi. Nanso asɛmpa no ne sɛ, .Ɛyɛ nea wotumi di ho dwuma na ennya w’akwahosan nyinaa so nkɛntɛnso kɛse. Wo duruyɛfo ne wo bɛyɛ adwuma de ahwehwɛ ayaresa nhyehyɛe a eye sen biara ama wo.

Nkrasɛm a Wɔde Kɔ Fie

Okay, enti momma yɛnkae wo nneɛma kakraa bi a yɛaka ho asɛm a yesusuw sɛ ɛho hia wo:

McArdle yare yɛ awosu mu tebea a efi enzyme bi a ɛboa ma ntini ahorow ma ahoɔden a enni hɔ na ɛde ba.

Nsɛnkyerɛnne titiriw ne sɛ wobɛbrɛ ntɛmntɛm, ntini mu yaw, ne sɛ woreteɛteɛ n’apɔw mu a, wobɛhuruhuruw.

Hu ɔhaw a anibere wom a wɔfrɛ no `rhabdomyolysis` no. Sɛ wuhu saa sɛnkyerɛnne ahorow yi a, kɔ oduruyɛfo nkyɛn ntɛm ara.

Ɛwom sɛ wonni eyi ho aduru pɔtee biara de, nanso wobetumi adi ho dwuma yiye na wɔde apɔw-mu-teɛteɛ ne aduan a ɛfata abɔ asetra a ɛfata.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho a, ntwentwɛn wo nan ase sɛ wo ne wo duruyɛfo bɛkasa.

Kae sɛ ɛnyɛ wo nko ara. Sɛ wunya nimdeɛ ne mmoa a ɛfata a, wubetumi agyina tebea yi ano.

` McArdle Yare, GSD5, McArdle Yare, Ntini mu Ɛyaw, Apɔw-mu-teɛteɛ, Awosu mu Yare, Glycogen, Myophosphorylase, Rhabdomyolysis, Apɔw-mu-teɛteɛ a wontumi nnye ntom