Wakambonzwa nezvechirwere cheRefsum here? Ngatikurukurei nezvechirwere ichi chisingawanzoitiki!

Wakambonzwa nezvechimwe chinhu chinonzi 'Refsum Disease' here? Pamwe zita iri inyaya itsva kuvanhu vazhinji. Nekuti chirwere chisingawanzoitiki, kureva kuti, chirwere chemajini chisingawanzoonekwi. Asi zvakakosha zvikuru kuziva zvinhu zvakaita seizvi. Nhasi, tichataura nezveRefsum Disease zviri nyore, nenzira yaunogona kunzwisisa.

Chii chaizvo chinonzi Refsum Disease?

Zvichitaurwa zviri nyore, chirwere cheRefsum chirwere chemajini chinokanganisa nhengo mbiri dzakasiyana. Chimwe chirwere cheInfantile Refsum Disease , uye chimwe chirwere cheAdult Refsum Disease . Ose ari maviri ari muboka guru rezvirwere zvinonzi "Peroxisomal disorders." Chinoitika apa ndechekuti nekuda kwekuchinja kwakasiyana (tinoti "kuchinja") mumajini ari mumuviri wedu, mamwe marudzi emafuta haagone kupatsanurwa zvakanaka, kureva kuti, haagone kugayiwa. Kana uine chirwere ichi, muviri wako unorasikirwa nema enzyme anobatsira kupatsanurwa kwemhando yemafuta anonzi "Phytanic acid." Chinoitika ndechekuti "Phytanic acid" inotanga kuungana mumuviri. Funga nezvazvo semarara mumba medu uye zvinokonzera matambudziko.

Ndeupi musiyano uripo pakati peRefsum yemunhu mukuru neRefsum yemucheche?

Mumhando mbiri dzechirwere cheRefsum, unogona kuona kurasikirwa nekuona uye kuunganidzwa kwe `(Phytanic acid)` mumuviri wandambotaura. Asi mamiriro maviri aya anoitika nekuda kwekuchinja (`(mutations)`) mumajini maviri akasiyana tisati tatombozvarwa.

• Chirwere cheInfantile Refsum: Ichi chimwe chezvirwere zvinonzi Zellweger spectrum disorders. Chinokonzera zviratidzo muvacheche nevana vadiki. Semuenzaniso, tsandanyama dzisinganyatsooneki, kusadya zvakanaka, pfari , kunonoka kukura , uye chirwere chechiropa . Infantile Refsum chirwere chakakomba kupfuura Refsum yevakuru. Nguva yekurarama kwevacheche vane chirwere ichi inogona kusiyana, asi inogona kuuraya pakupedzisira.

• Chirwere cheRefsum yeVakuru: Izvi zvinowanzoonekwa pazera rehudiki kana kuti gare gare. Zvinonyanya kukonzera kurasikirwa nekuona , kurasikirwa nekunhuhwirira , kusanzwa kana kushaya simba mumakumbo , uye kurasikirwa nekunzwa . Kusiyana neRefsum yevana, izvi hazvikanganisi uropi. Saka, pfari kana kunonoka kukura hazviwanzoonekwa. Zvisinei, pane njodzi yezvinetso zvakakomba zvemwoyo gare gare muhupenyu.

Chirwere cheRefsum chakajairika zvakadii?

Chirwere cheRefsum chirwere chisingawanzoitiki . Chirwere cheRefsum chevacheche chinowanikwa muvanhu vanosvika zana pazviuru zana. Chirwere cheRefsum chevakuru chinotonyanya kusawanzoitika, chinowanikwa muvanhu vanosvika miriyoni imwe chete. Saka unogona kufungidzira kuti izvi hazviwanzoitiki sei.

Ndezvipi zviratidzo zvechirwere cheRefsum?

Zviratidzo zvechirwere cheRefsum zvinosiyana zvichienderana nezera raunotanga kuona zviratidzo.

Kudzorerwa kweVacheche

Kana mwana wako aine chirwere cheRefsum, anogona kunge asina simba pakuzvarwa, sekunge akafa. Anogonawo kunetseka nekuyamwisa . Zviratidzo zvake zvinoenderana nekuoma kwechirwere. Anogona kunge aine pfari, kana kuti anogona kunge aine zvimwe zvinhu zvisina kumira zvakanaka munhengo idzi:

• Itsvo (`(itsvo)`)
• Chiropa (`(Chiropa)`)
• Mapfupa (kunyanya mapfupa marefu)

Vacheche vane chirwere chakanyanya vanogona kufa mukati megore rekutanga rehupenyu hwavo.

Vana vakuru vanogona kusangana nematambudziko akadai se:

• Kuremara kwekukura
• Kukura kusina kunaka
• Matambudziko ekuona nekunzwa

Kudzokorora Kwevanhu Vakuru

Chiratidzo chekutanga chechirwere cheRefsum chevakuru chinowanzova kurasikirwa nekuona husiku . Izvi zvinokonzerwa nechirwere chinonzi `(Retinitis pigmentosa)`. Mwana wako anogona kuona kurasikirwa uku kwekuona husiku mumakore ake ekuyaruka, ari pazera remakore gumi nematatu kana gumi nemana. Kana kuti anogona kusaratidza zviratidzo kusvika akura. Sezvaanokura, chirwere ichi che`(Retinitis pigmentosa)` chinogona kukonzera kurasikirwa nekuona kwekunze uye pakupedzisira kutungamira kuhupofu hwese.

Zvimwe zviratidzo zveRefsum yevakuru zvinosanganisira:

• Kurasikirwa nekunzwa kwekunhuhwidza (`(Anosmia)`)
• Kunzwa kusanzwa kana kupisa mumakumbo
• Kurasikirwa nekunzwa
• Nyaya dzekuenzanisa
• Ichthyosis (mavara akaomarara, ane mavanga paganda)
• Kuona kusina kujeka, sekunge madhaka emaziso ari kuumbwa (`(Cataracts)`)
• Chirwere chemwoyo chakakomba, semuenzaniso, kurova kwemoyo kusina kurongeka (arrhythmia) kana kutadza kwemoyo (kutadza kwemoyo)

Ndezvipi zvinetso zvinokonzerwa nechirwere cheRefsum?

Kusadya zvakanaka muvana vacheche chirwere chakakomba uye chinovapedza simba . Vana vane matambudziko makuru ekudya, pfari, kuona uye kunzwa. Nguva yavo yekurarama inopfupikiswa nekuda kwematambudziko ekufema.

MuRefsum yevakuru, kuona kwako kunoderera zvishoma nezvishoma nekufamba kwenguva. Kushaya simba, kurasikirwa nemanzwiro, uye matambudziko ekuenzanisa kunowedzerawo zvishoma nezvishoma. Dzimwe nguva, panguva yekushushikana kwemuviri, senge kana uine chirwere chikuru kana kuvhiyiwa , huwandu hwe `(Phytanic acid)` hwandataura hunogona kukwira zvakanyanya. Ipapo kurova kwemoyo kunogona kusarongeka kana kuti panogona kuva nekushaya simba kwakanyanya. Kana zvikasarapwa, kusarongeka kwerhythm yemoyo (`(Arrhythmias)`) kunogona kutoisa hupenyu panjodzi.

Chii chinokonzera chirwere cheRefsum?

Chirwere cheRefsum chinokonzerwa nekuchinja (mutation) mumajini aunawo pakuzvarwa. Unogona kuwana mutation iyi kubva kuna amai vako, baba vako, kana vese vari vaviri.

Kune majini anopfuura gumi nemaviri anogona kukonzera Refsum yevana. Paaya, anonyanya kuzivikanwa ndeaya `(PEX1)` (anenge 60%), `(PEX6)` (anenge 15%), `(PEX12)` (anenge 7.6%) uye `(PEX26)` (anenge 4.2%).

Chirwere cheRefsum chevakuru chinokonzerwawo nekuchinja kwemajini kunowanikwa pakuzvarwa uye kunopfuudzwa nezvizvarwa. Vanhu vanosvika vapfumbamwe pagumi vane chirwere cheRefsum chevakuru vane kuchinja kwemajini `(PHYH)`. Vamwe vazhinji vane kuchinja kwemajini `(PEX7)`.

Fungidzira nezvazvo sefekitori diki mumuviri wedu uko muchina unokosha unoputsika. Matambudziko akadai anoitika kana michina inonzi majini isingashande nemazvo.

Chirwere cheRefsum chinoonekwa sei?

Vanachiremba vanoshandisa bvunzo dzakasiyana kuti vaongorore chirwere cheRefsum, zvichienderana nezera rako. Vanogonawo kuita bvunzo dzemajini kuti vaone kana paine shanduko dzemajini dzinokonzera chirwere cheRefsum.

• KuRefsum yevana vacheche: Miedzo inowanzo shandiswa ndeyekuyera ma "long-chain fatty acids" (`(very long-chain fatty acids)`), phytanic acid (`(phytanic acid)`), uye pristanic acid (`(pristanic acid)`).
• Kumunhu mukuru Refsum: Chiremba wako anogona kutanga atora ropa oedza mazinga ako e`(Phytanic acid)`.

Chirwere cheRefsum chinorapwa sei?

Kurapa kweInfantile Refsum

Kana mwana wako aine chirwere cheRefsum chevacheche, chiremba ndiye achasarudza marapirwo anoenderana nezviratidzo zvemwana. Izvi zvinogona kusanganisira zvinhu zvakaita se:

• Kudyisa machubhu
• Kubviswa kweCataract (`(Kubviswa kweCataract)`)
• Magirazi
• Zvishandiso zvekunzwa (`(Zvishandiso zvekunzwa)`)
• Mavhitamini
• Mishonga yekudzivirira pfari
• Mishonga yakasiyana-siyana uye mabasa ekupindira nekukurumidza ekuderedza kunonoka kwekukura (`(kurapa/mabasa ekupindira nekukurumidza)`)

Kurapa Kwevanhu Vakuru Vane Refsum

Pakurapa chirwere cheRefsum chevakuru, ungangoda kuderedza chikafu chinowedzera huwandu hwephytanic acid mumuviri wako. Semuenzaniso:

• Nyama yemombe negwayana
• Zvigadzirwa zvemukaka
• Hove dzine mafuta, dzakadai sehove yeCod, tuna, kana kuti haddock.

Vamwe vanhu vangangodawo kurapwa kunonzi ``Plasmapheresis'' kudzora kuunganidzwa kwe``Phytanic acid''. Mu ``Plasmapheresis'', chiremba anotora rimwe ropa rako, obvisa ``Phytanic acid'' yakawandisa, obva adzorera ropa iroro kwauri. Kunyangwe iri kurapa kwakaoma, kunobatsira zvikuru kune vamwe vanhu.

Chirwere cheRefsum chinoda kurapwa kwechirwere chemwoyo here?

Muvanhu vakuru vane chirwere cheRefsum, kana ukatanga kurova kwemoyo zvisina kurongeka, ungangoda kurapwa kudzora kurova kwemoyo wako. Izvi zvinogona kusanganisira:

• Mhando dzemishonga:Mishonga yakaita se `(Beta-blockers)`, `(Calcium channel blockers)`, kana `(Anticoagulants)` inoderedza kugwinha kweropa inopihwa kudzora kurova kwemoyo kana kuderedza njodzi yekurohwa nestroke.
• Kuchinja kwemoyo: Kupiwa kwekurohwa nemagetsi kunodzorwa kuti pave nekurova kwemoyo kwakajairika.
• Implantable cardioverter defibrillator (ICD): Ichi chishandiso chinoiswa pasi peganda rako. Chinotarisa uye chinodzora kurova kwemoyo wako.
• Kubvisa catheter: Iyi inzira isinganyanyi kukuvadza mwoyo ine chirwere nemaune kuti imise kurova kwemoyo kusina kurongeka.

Chii chingatarisirwa nemunhu ane chirwere cheRefsum?

Vana vane Refsum yevana vacheche vanowanzova nekunonoka kukuru mukukura uye vanoda rubatsiro rwakawanda rwechiremba. Zvinosuwisa kuti pasinei nekutarisirwa kwakanaka, kuomarara uye rudzi rwechirwere ichi zvinopfupisa hupenyu hwevana ava.

Vanhu vazhinji vane Refsum yevakuru vanobudirira kubata zviratidzo zvavo nekuderedza chikafu chine `(Phytanic acid)`. Nekurapwa, zviratidzo zvakaita seganda rakaoma uye kusanzwa zvakanaka zvinowanzopera. Zvisinei, ungangofanira kurarama nematambudziko ekuona kwenguva refu kana kunzwa. Vamwe vanhu vangasazombowanazve pfungwa yavo yekunhuhwidza yakarasika.

Nzira yekuderedza sei njodzi yechirwere cheRefsum?

Nekuti chirwere cheRefsum chirwere chinokonzerwa nemajini, hapana nzira yekudzivirira.

Kana uine chirwere cheRefsum, kana kuti uchifunga kuti ungave uri mutakuri wechirwere ichi, ungangoda kufunga nezvekuongorora majini. Kuongororwa kwemajini kunogona kuona shanduko yemajini inokonzera chirwere cheRefsum. Mupi wezano wemajini anogona kukubatsira kunzwisisa zvabuda muongororo uye kutsanangura mikana yekuti vana vako vachagara nhaka chirwere ichi.

Chii chandinofanira kubvunza chiremba wangu?

Kana uine chirwere cheRefsum, kana kuti uchifungidzira kuti unacho, unogona kubvunza chiremba wako mibvunzo yakaita seiyi:

• Ndezvipi zviratidzo zvekutanga zvechirwere cheRefsum?
• Ndezvipi zviedzo zvinoshandiswa kuongorora chirwere cheRefsum?
• Ndezvipi zvingasarudzwa zvekurapa chirwere cheRefsum?
• Ndinofanira kuongororwa majini echirwere cheRefsum here?
• Mikana yekuti mwana wangu achagara nhaka chirwere cheRefsum ndeipi?

Zvakajairika kuti utye kana ukaziva kuti iwe kana mwana wako ane chirwere chisingawanzoitiki chemajini. Zvisinei, kuongororwa chirwere ndicho nhanho yekutanga yekunzwisisa zviri kuitika.

Muchidimbu (Mharidzo Yekuenda Kumba)

Chirwere cheRefsum chirwere chisingawanzoitiki uye chakaoma kunzwisisa. Zvisinei, kana chirwere ichi chikaonekwa zvakanaka uye chikarapwa nekukasika,Nekurapwa, kunyanya muchirwere cheRefsum chevakuru, zvinokwanisika kudzora zviratidzo uye kurarama hupenyu hwakanaka. Kunyangwe mamiriro eRefsum yemucheche akaoma, zvakakosha kupa mwana rubatsiro rwakanyanya uye rutsigiro rwaanoda.

Kana uine mimwe mibvunzo nezveizvi, kana kuti kana uchifungidzira kuti mumwe munhu mumhuri mako ane zviratidzo izvi, usambozeza kutsvaga mazano echiremba. Zvinogonawo kubatsira zvikuru kubatana nemapoka ekutsigirana anobatsira vanhu vane zvirwere izvi zvisingawanzoitiki nemhuri dzavo. Kunyange zvazvo ruzivo rwemunhu wese rwakasiyana, kutaura nevamwe kunogona kukubatsira kuti usanyanya kusurukirwa.

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