So woate Refsum Yare ho asɛm pɛn? Momma yɛnka tebea a ɛntaa nsi yi ho asɛm!

So woate biribi a wɔfrɛ no ‘Refsum Yare’ ho asɛm pɛn? Ebia saa din yi yɛ ade foforo kakra ma nnipa pii. Efisɛ ɛyɛ awosu mu yare a wɔntaa nhu. Nanso ɛsom bo paa sɛ wobɛma w’ani ada hɔ kakra wɔ nneɛma a ɛte sɛɛ ho. Ɛnnɛ, yɛbɛka Refsum Yareɛ ho asɛm tiawa, wɔ ɔkwan a wobɛtumi ate aseɛ so.

Dɛn ankasa ne Refsum Yare?

Sɛ yɛbɛka no tiawa a, Refsum yare no yɛ awosu mu nyarewa ahorow abien. Baako ne Nkokoaa Refsum Yare , na biako nso ne Mpanyimfo Refsum Yare . Eyinom abien nyinaa ka nyarewa kuw kɛse bi a wɔfrɛ no `(Peroxisomal disorders)` ho. Nea ɛba wɔ eyi mu ne sɛ esiane nsakrae ahorow bi (yɛfrɛ eyinom `(mutations)`) wɔ awosu mu nkwaadɔm a ɛwɔ yɛn nipadua mu nti, srade ahorow bi ntumi nsɛe no yiye, kyerɛ sɛ, wontumi nwe. Sɛ wowɔ saa tebea yi a, wo nipadua no hwere enzymes a ɛboa ma srade bi a wɔfrɛ no `(Phytanic acid) bubu.` Afei nea ɛba ne sɛ, saa `(Phytanic acid)` yi fi ase boaboa ano wɔ nipadua no mu. Fa no sɛ nwura bi boaboa ano wɔ yɛn fie na ɛde ɔhaw ba.

Nsonsonoe bɛn na ɛda Refsum a wɔanyinyin ne Refsum a wɔyɛ nkokoaa ntam?

Wɔ Refsum yareɛ ahodoɔ mmienu no nyinaa mu no, wobɛtumi ahunu aniwa a ɛyera ne `(Phytanic acid)` a ɛboaboa ano wɔ nipadua no mu a madi kan aka ho asɛm no. Nanso saa tebea abien yi ba esiane nsakrae (`(mutations)`) a ɛba awosu mu nkwaadɔm ahorow abien mu ansa na wɔrewo yɛn mpo nti.

• Nkokoaa Refsum Yare: Eyi yɛ tebea horow kuw bi a wɔfrɛ no Zellweger spectrum disorders no mu biako. Ɛde sɛnkyerɛnne ahorow ba nkokoaa ne mmofra nkumaa so. Sɛ nhwɛso no, ntini a ɛyɛ mmerɛw , aduan a wonnya nni , akisikuru , nkɔso a ɛkyɛ , ne mmerɛbo mu yare . Infantile Refsum yɛ tebea a emu yɛ den sen mpanyimfo Refsum. Bere a nkokoaa a wɔwɔ saa tebea yi betumi atra ase no betumi ayɛ soronko, nanso awiei koraa no ebetumi akum wɔn.

• Mpanyimfo Refsum Yare: Eyi taa ba wɔ mmofraase awiei anaa akyiri yi. Ɛma obi nhu ade yiye titiriw , ɔhwere hua , nipadua no akwaa no yɛ mmerɛw anaasɛ ɛyɛ mmerɛw , na ɔte asɛm yiye . Nea ɛnte sɛ Refsum a wɔde yɛ nkokoaa no, eyi nnya amemene no so nkɛntɛnso. Enti, wɔntaa nhu akisikuru anaa nkɔso a ɛkyɛ. Nanso, asiane wɔ hɔ sɛ obi benya komayare a emu yɛ den akyiri yi.

Refsum yare no abu so dɛn?

Refsum yare no yɛ tebea a ɛntaa nsi koraa ankasa. Nkokoaa Refsum yare no ba nnipa bɛyɛ ɔha biara mu biako mu. Mpanyimfo Refsum yare no ho yɛ na mpo, na ɛba bɛyɛ ɔpepem biara mu biako mu. Enti wubetumi asusuw sɛnea eyi ho yɛ na no ho.

Dɛn ne Refsum yare no ho sɛnkyerɛnne?

Refsum yare no ho sɛnkyerɛnne gu ahorow gyina mfe a wufi ase nya sɛnkyerɛnne ahorow no so.

Nkokoaa Refsum

Sɛ wo ba no wɔ Refsum yare a, ebia ɛbɛyɛ floppy kɛse wɔ awo mu, te sɛ nea nkwa nnim. Ebia ɛbɛyɛ den ama wɔn nso sɛ wɔbɛma wɔn nufu . Wɔn sɛnkyerɛnne gyina sɛnea yare no mu yɛ den so. Ebia wɔanya akisikuru, anaasɛ ebia wɔn akwaa ahorow yi mu nneɛma a ɛnteɛ:

• Asaabo (`(Asaabo)`) .
• Mmerɛbo (`(Mmerɛbo)`) .
• Nnompe (titiriw nnompe atenten) .

Ɛtɔ mmere bi a nkokoaa a yare no mu yɛ den no tumi wuwu wɔ wɔn nkwa afe a edi kan no mu.

Mmofra a wɔanyinyin betumi anya nneɛma te sɛ:

• Nkɔso mu dɛmdi ahorow
• Nkɔso a enye
• Anisoadehu ne aso mu haw ahorow

Mpanyimfo Refsum

Mpɛn pii no, Refsum yare a ɛba mpanyin afe so ho sɛnkyerɛnne a edi kan ne sɛ obi ntumi nhu ade yiye anadwo . Eyi fi tebea bi a wɔfrɛ no `(Retinitis pigmentosa)`. Ebia wo ba no behu saa anadwo anisoadehu a ɛyera yi wɔ ne mmabunbere mu, bɛyɛ mfe dumiɛnsa anaa dunan. Anaasɛ ebia wɔrenna yare no ho sɛnkyerɛnne biara adi kosi sɛ wɔbɛyɛ mpanyimfo. Bere a wɔrenyin no, saa `(Retinitis pigmentosa)` tebea yi betumi ama wɔahwere aniwa a ɛwɔ akyi no na awiei koraa no ama wɔn ani afura koraa .

Refsum ho sɛnkyerɛnne afoforo a ɛwɔ mpanyimfo mu no bi ne:

• Hua a ɛyera (`(Anosmia)`) .
• Akwaa a ɛyɛ mmerɛw anaasɛ ɛyɛ hyew
• Aso a ɛyɛ mmerɛw
• Nsɛm a ɛfa kari pɛ ho
• Ichthyosis (a ɛyɛ mmerɛw na ɛyɛ mmerɛw wɔ honam ani) .
• Anisoadehu a ɛyɛ kusuu, te sɛ nea ani a ɛyɛ mmerɛw reyɛ wɔ aniwa no mu (`(Cataracts)`) .
• Sɛ nhwɛso no, komayare a emu yɛ den, koma a ɛbɔ a ɛnteɛ (arrhythmia) anaa koma a entumi nyɛ adwuma yiye (koma a entumi nyɛ adwuma yiye) .

Dɛn ne nsɛnnennen a ɛwɔ Refsum yare no mu?

Refsum a ɛba nkokoaa mu no yɛ tebea a emu yɛ den yiye na ɛma wɔyɛ mmerɛw . Mmofra wɔ ɔhaw ahorow a emu yɛ den wɔ adidi, akisikuru, anisoadehu ne aso ho. Wɔn nkwa nna yɛ tiaa esiane ɔhome mu nsɛnnennen nti.

Wɔ Refsum a wɔanyinyin mu no, bere kɔ so no, w’aniwa no sɛe nkakrankakra. Mmerewa, nkate a wɔhwere, ne kari pɛ ho haw ahorow nso kɔ soro nkakrankakra. Ɛtɔ da bi a, wɔ nipadua mu adwennwene bere mu, te sɛ bere a wowɔ yare kɛse anaa woyɛ wo oprehyɛn , `(Phytanic acid)` dodow a mekaa ho asɛm no betumi ayɛ kɛse yiye. Afei koma no bɔ betumi ayɛ nea ɛnkɔ so daa anaasɛ mmerɛwyɛ a ɛtra so betumi aba. Sɛ wɔansa a, saa koma no nnyigyei a ɛnkɔ so pɛpɛɛpɛ (`(Arrhythmias)`) yi betumi de nkwa mpo ato asiane mu.

Dɛn na ɛde Refsum yare no ba?

Refsum yare no fi nsakrae (mutation) a ɛba wɔ awosu mu abɔde bi a wowɔ wɔ awo mu. Wubetumi anya saa mutation yi afi wo maame, wo papa, anaa wɔn baanu nyinaa hɔ.

Awosu mu nkwaadɔm bɛboro dumien na ebetumi ama nkokoaa Refsum aba. Eyinom mu no, nea ɛtaa ba ne `(PEX1)` (bɛyɛ 60%), `(PEX6)` (bɛyɛ 15%), `(PEX12)` (bɛyɛ 7.6%) ne `(PEX26)` (bɛyɛ 4.2%).

Mpanyimfo Refsum yare no nso fi awosu mu nsakrae a ɛwɔ hɔ wɔ awo mu na ɛde kɔ awo ntoatoaso ahorow mu. Nnipa du biara mu bɛyɛ baakron a wɔwɔ Refsum yare a wɔanyinyin no wɔ nkwaadɔm mu nsakrae wɔ awosu mu nkwaadɔm `(PHYH)` mu. Afoforo dodow no ara wɔ mutation wɔ gene `(PEX7)` mu.

Fa no sɛ adwumayɛbea ketewaa bi a ɛwɔ yɛn nipadua mu a afiri bi a ɛho hia sɛe. Ɔhaw ahorow te sɛ eyinom ba bere a saa mfiri a wɔfrɛ no awosu mu nkwaadɔm no ntumi nyɛ adwuma yiye no.

Ɔkwan bɛn so na wohu Refsum yare no?

Nnuruyɛfo de nhwehwɛmu ahorow di dwuma de hu Refsum yare no, a egyina mfe a woadi so. Ebia wɔbɛyɛ awosu mu nhwehwɛmu nso de ahwehwɛ awosu mu nsakrae a ɛde Refsum yare ba.

• Wɔ nkokoaa Refsum ho: Sɔhwɛ a wɔtaa yɛ ne sɛ wɔbɛsusu sradeɛ a ɛwɔ nkɔnsɔnkɔnsɔn tenten paa (`(sradeɛ a ɛwɔ nkɔnsɔnkɔnsɔn tenten paa)`), phytanic acid (`(phytanic acid)`), ne pristanic acid (`(pristanic acid)`).
• Wɔ mpanyimfo Refsum ho: Wo duruyɛfo betumi adi kan agye mogya na wasɔ wo `(Phytanic acid)` dodow ahwɛ.

Ɔkwan bɛn so na wɔsa Refsum yare no?

Ayaresa a Wɔde Ma Nkokoaa Refsum

Sɛ wo ba no wɔ Refsum yare a ɛyɛ nkokoaa a, oduruyɛfo no begyina abofra no sɛnkyerɛnne ahorow so asi ayaresa ho gyinae. Ebia nneɛma te sɛ:

• Tube a wɔde ma aduan
• Cataract a woyi fi hɔ (`(Cataract a woyi fi hɔ)`) .
• Abobɔdeɛ
• Mmoa a wɔde te asɛm (`(Mmoa a wɔde te asɛm)`) .
• Vitamin ahorow a ɛwɔ nipadua no mu
• Nnuru a wɔde ko tia akisikuru
• Ayaresa ahodoɔ ne dwumadie a wɔde wɔn ho hyɛ mu ntɛm ma nkɔsoɔ a ɛkyɛ (`(ayaresa/aduru a wɔde wɔn ho hyɛ mu ntɛm)`)

Ayaresa a Wɔde Ma Mpanyimfo Refsum

Sɛ woresa mpanyimfo Refsum yare a, ebia ɛho behia sɛ woto nnuan a ɛma wo nipadua mu phytanic acid dodow kɔ soro no ano hye. Nhwɛsoɔ:

• Nantwinam ne oguammaa
• Nneɛma a wɔde nufusu yɛ
• Mpataa a srade wom, te sɛ cod, tuna, anaa haddock.

Ebia nnipa binom nso behia ayaresa bi a wɔfrɛ no ``Plasmapheresis'' de asiw ``Phytanic acid'' a ɛboaboa ano no ano. Wɔ ``Plasmapheresis'' mu no, oduruyɛfo bi fa wo mogya no bi, yi ``Phytanic acid'' a ɛboro so no fi mu, na afei ɔsan de saa mogya no ma wo. Ɛwom sɛ eyi yɛ ayaresa a ɛyɛ den kakra de, nanso mfaso wɔ so kɛse ma nnipa binom.

So Refsum yareɛ no hwehwɛ sɛ wɔsa komayareɛ?

Wɔ mpanyimfo a wɔwɔ Refsum yare no mu no, sɛ mpofirim ara wo koma bɔ a ɛnteɛ a, ebia wubehia ayaresa na ama wo koma abɔ so. Ebia eyi bi ne:

• Nnuru ahorow a wɔde di dwuma:Wɔde nnuru te sɛ `(Beta-blockers)`, `(Calcium channel blockers)`, anaa `(Anticoagulants)` a ɛtew mogya a ɛtwetwe so ma de hwɛ koma a ɛbɔ so anaasɛ ɛtew asiane a ɛwɔ hɔ sɛ obi benya ɔyare a ɛma obi hwe ase no so.
• Cardioversion: Electrical shock a wɔahyɛ so a wɔde ma na ama koma no asan abɔ sɛnea ɛsɛ.
• Implantable cardioverter defibrillator (ICD): Eyi yɛ afiri a wɔde hyɛ wo honam ani. Ɛhwɛ wo koma bɔ so na ɛhwɛ so yiye.
• Catheter ablation: Eyi yɛ adeyɛ a ɛnyɛ den pii a ɛhwehwɛ sɛ wɔhyɛ da sɛe koma ntini a yare no de twa koma a ɛbɔ a ɛnkɔ so daa no mu.

Dɛn na obi a ɔwɔ Refsum yare no betumi ahwɛ kwan?

Mmofra a wɔwɔ Refsum a wɔde yɛ nkokoaa no taa nyin kyɛ kɛse na wohia nnuruyɛfo a wɔde wɔn ho hyɛ mu kɛse. Awerɛhosɛm ne sɛ, ɛmfa ho ɔhwɛ a eye sen biara no, sɛnea tebea no mu yɛ den ne sɛnea ɛte no ma mmofra yi nkwa nna yɛ tiaa.

Nnipa pii a wɔwɔ Refsum a wɔanyinyin no di wɔn sɛnkyerɛnne ahorow ho dwuma yiye denam nnuan a `(Phytanic acid)` pii wom a wɔtew so. Sɛ wɔsa yare a, sɛnkyerɛnne te sɛ honam ani a ɛyɛ mmerɛw ne nea ɛyɛ mmerɛw no taa fi hɔ. Nanso, ebia ɛho behia sɛ wotra ase a wowɔ anisoadehu anaa aso mu haw a ɛkyɛ. Ebia nnipa binom rennya wɔn hua a ayera no bio da.

Ɔkwan bɛn so na wɔbɛtew asiane a ɛwɔ hɔ sɛ wobenya Refsum yare no so?

Esiane sɛ Refsum yare no yɛ awosu mu yare nti, ɔkwan biara nni hɔ a wɔbɛfa so asiw ano.

Sɛ wowɔ Refsum yareɛ, anaa wosusu sɛ ebia woyɛ obi a ɔwɔ yareɛ no a, ebia wobɛpɛ sɛ wosusu awosuo mu nhwehwɛmu ho. Awosu mu nhwehwɛmu betumi ahu awosu mu nkwaadɔm mu nsakrae a ɛde Refsum yare no ba. Awosu ho ɔfotufo betumi aboa wo ma woate nea efii nhwehwɛmu no mu bae ase na wakyerɛkyerɛ hokwan a ɛwɔ hɔ sɛ wo mma benya awosu mu tebea no afi awo mu no mu.

Dɛn na ɛsɛ sɛ mibisa me duruyɛfo?

Sɛ wowɔ Refsum yareɛ, anaa wosusu sɛ wowɔ bi a, wobɛtumi abisa wo duruyɛfoɔ nsɛm te sɛ yeinom:

• Dɛn ne Refsum yare no ho sɛnkyerɛnne a edi kan?
• Nhwehwɛmu bɛn na wɔde hu Refsum yare no?
• Dɛn ne ayaresa a wobetumi apaw ama Refsum yare no?
• So ɛsɛ sɛ meyɛ awosu mu nhwehwɛmu wɔ Refsum yare no ho?
• Hokwan bɛn na ɛwɔ hɔ sɛ me ba no benya Refsum yare no?

Ɛyɛ ade a ɛfata sɛ wobɛte ehu nka bere a wuhu sɛ wo anaa wo ba wɔ awosu mu yare bi a wɔntaa nhu no. Nanso, sɛ́ wubehu yare no ne ade a edi kan a ɛsɛ sɛ woyɛ na ama woate nea ɛrekɔ so no ase.

Sɛ yɛbɛbɔ no mua a (Take-Home Message) .

Refsum Yare yɛ tebea a ɛntaa nsi na ɛyɛ den. Nanso, sɛ wohu yare no yiye na wɔsa no yare ntɛm a, .Sɛ wɔde ayaresa di dwuma, titiriw wɔ Refsum yare a wɔanyinyin mu no, wobetumi adi sɛnkyerɛnne ahorow no so na wɔatra ase pa. Ɛwom sɛ nkokoaa Refsum tebea no yɛ den kɛse de, nanso ɛho hia yiye sɛ wɔde ɔhwɛ ne mmoa a ɛsen biara a wohia ma abofra no.

Sɛ wowɔ nsɛmmisa foforo bi fa eyi ho, anaasɛ wususuw sɛ obi wɔ w’abusua mu wɔ saa sɛnkyerɛnne ahorow yi a, ntwentwɛn wo nan ase da sɛ wobɛhwehwɛ aduruyɛ mu afotu. Ebetumi nso ayɛ mmoa kɛse sɛ wobɛka mmoa akuw a wɔboa nnipa a wɔwɔ nyarewa a wɔntaa nhu yi ne wɔn mmusua ho. Ɛwom sɛ ɛsono sɛnea obiara suahu de, nanso sɛ wo ne afoforo kasa a, ebetumi aboa wo ma woante nka sɛ ankonam.

` Refsum yareɛ, Refsum yareɛ, awosuo mu nyarewa, phytic acid, anisoadehunu mu haw, aso a ɛnteɛ, nkokoaa Refsum, mpaninfoɔ Refsum