Chii chinonzi Wolfram Syndrome? Ngatitaurei nezvazvo!

Wakambonzwa nezveWolfram Syndrome here? Zita iri ringave idzva kwauri. Idambudziko risingawanzoitika mumajini rinokanganisa vanhu vashoma, asi rinogona kuva rakakomba zvikuru. Rinogona kukuvadza uropi hwako nedzimwe nhengo dzemuviri wako. Zvakakosha kuziva nezvechirwere ichi, kunyanya sezvo zviratidzo zvinogona kutanga kuoneka muhudiki.

Chii chinonzi Wolfram Syndrome?

Zvichitaurwa zviri nyore, chirwere cheWolfram chirwere chemajini chinopfuudzwa kubva kuchizvarwa kuenda kune chimwe. Idambudziko retsinga, zvichireva kuti rinokuvadza uropi nehurongwa hwetsinga nekufamba kwenguva. Izvi zvinoita kuti zviratidzo zvikure zvishoma nezvishoma, kazhinji zvichitanga muhudiki zvichienderera mberi kusvika pakukura. Dambudziko rechirwere cheshuga nekuona kazhinji zviratidzo zvekutanga zvechirwere usati wasvitsa makore gumi nemashanu. Nekufamba kwenguva, mashandiro europi anogona kukanganisika uye dzimwe nguva kutyisidzira hupenyu.

Kune marudzi eWolfram Syndrome here?

Ehe, vanachiremba vakawana marudzi maviri emajini ane chekuita nechirwere ichi. Unoziva, majini zvidimbu zvidiki zveDNA zvine ruzivo rwese rwuri mumiviri yedu. Vanhu vane Wolfram syndrome vane shanduko dzakati mumajini aya, atinodaidza kuti mutations. Saka, inorongwa zvichienderana nejini rinokanganiswa:

• Wolfram syndrome rudzi 1: Izvi zvinokonzerwa nekuchinja kwemajini kunonzi ``(WFS1 gene)``.
• Wolfram syndrome rudzi rwechipiri: Izvi zvinokonzerwa nekuchinja kwemajini kunonzi `(WFS2 (CISD2) gene)`.

Panogona kunge paine mutsauko mudiki muzviratidzo zvemhando mbiri idzi.

Chirwere ichi chinogarwa nhaka sei?

Kazhinji, kuti mwana ave neWolfram syndrome, vabereki vese vanofanira kunge vari ivo vanotakura gene mutation inokonzera chirwere ichi. Izvi zvinoreva kuti mwana anofanira kugara nhaka gene rakachinjwa kubva kuvabereki vese. Zvisinei, kashoma, Wolfram syndrome type 1 inogona kugara nhaka kubva kumubereki mumwe chete.

Wolfram Syndrome yakajairika zvakadii?

Nekuti chirwere ichi chisingawanzoitiki, zvakaoma kutaura kuti vanhu vangani vane chirwere ichi. Imwe ongororo yakawana kuti muUnited Kingdom, chirwere ichi chinokanganisa munhu mumwe chete pavanhu 770,000 . Zvidzidzo zvakabva kune dzimwe nyika zvakaratidza kuti chirwere ichi chakajairika mune dzimwe nzvimbo, kunyanya munharaunda dzine hama dzepedyo dzinoroorana uye dzine vana.

Chirwere cheWolfram type 2 chatove chisingawanzoitiki. Chakaonekwa mumhuri shoma pasi rose.

Ndezvipi zviratidzo zvikuru zveWolfram syndrome type 1?

Havasi vese vane chirwere cheWolfram syndrome type 1 vanozosangana nezviratidzo zvakafanana, uye zvinogona kusiyana kubva kumunhu kuenda kumunhu. Zvisinei, kazhinji, zviratidzo izvi zvinoonekwa nenzira yakati, panguva yehudiki nekukura. Heino kurongeka kwakajairika, uye zera rinowanzoonekwa zviratidzo:

• Chirwere cheshuga Mellitus - Kazhinji pazera remakore matanhatu: Chirwere cheshuga Mellitus idambudziko remuviri pakukwanisa kwemuviri kutora shuga, kana glucose, kubva muchikafu chatinodya. Kazhinji, pancreas yedu inoburitsa hormone inonzi insulin. Iyi insulin inobatsira masero edu kutora shuga kubva muropa. Saka, kana insulin ikasagadzirwa zvakanaka, kana masero akasapindura zvakanaka kune insulin inogadzirwa, huwandu hweshuga muropa hunogona kukwira zvakanyanya. Chirwere cheshuga chakabatana neWolfram syndrome chakafanana nechirwere cheshuga cheType 1, asi hachisi chirwere che autoimmune. Zviratidzo zvechirwere cheshuga zvinosanganisira kuita weti kakawanda, nyota yakawandisa, kuona zvisizvo, uye kudzikira kwehuremu kusingatsananguriki .

• Kuora Kwemaziso - Kazhinji kunoitika pazera remakore gumi nerimwe: Uku kuora zvishoma nezvishoma kwetsinga yemaziso, iyo inotakura mashoko kubva kumaziso kuenda kuuropi. Izvi zvinonziwo Optic Atrophy. Zviratidzo zvinogona kusanganisira kuona zvisipo, kurasikirwa nekujeka, kurasikirwa nekuona mavara, kana kurasikirwa nekuona kwemativi ekunze . Semuenzaniso, mavara ari mupepanhau anogona kunge asisanyatsojeka sezvaaive, kana kuti mwana anogona kunge asingachakwanisi kuona bhodhi remavara kuchikoro.

• Kurasikirwa nekunzwa kwe sensorineural - Kazhinji kunoitika pazera remakore gumi nematatu: Uku kurasikirwa kwekunzwa kunokonzerwa nekukuvara kwezvikamu zvinonzwa zvemukati kwenzeve. Izvi zvinonzi kurasikirwa nekunzwa kwe sensorineural. Kurasikirwa kwekunzwa uku kunogona kuwedzera nekukura, uye mune dzimwe nguva , kunogona kutokonzera kusanzwa zvachose. Unofanira kuvhura TV kuti unzwe, kana kuti unofanira kubvunza kuti "Wati chii?" kana mumwe munhu achitaura.

• Chirwere cheshuga Insipidus - Kazhinji pazera remakore gumi nemana: Hachisi chirwere cheshuga `(Diabetes Mellitus)` chataurwa pamusoro apa here? Izvi zvinonzi `(Diabetes Insipidus)`. Chinoitika apa ndechekuti hormone `(antidiuretic hormone)` inodzora huwandu hwemvura muweti yedu haigadzirwe zvakanaka, kana kuti muviri haupindure zvakanaka. Izvi zvinokonzera kuti weti yakawanda ibude, inenge yakaita semvura yakawanda. Nekuda kwekuita weti yakawandisa, kupera mvura mumuviri, kusawirirana kwema electrolyte, kushaya simba, muromo wakaoma, uye kuvimbiwa zvinogona kuitika.

Wolfram syndrome ine zita rekare, ``(DIDMOAD)``. Inoumbwa nekubatanidza mabhii ekutanga ezviratidzo zvikuru izvi:

* Chirwere cheshuga Insipidus (DI) - Diarrhea

* Chirwere cheshuga ( DM) - Chirwere cheshuga

* Optic Atrophy (OA) - Kutadza kuona zvakanaka

* Kusanzwa (D) - Kusanzwa zvakanaka/kusanzwa zvakanaka

Ndezvipi zvimwe zviratidzo zveWolfram syndrome type 1?

Kuwedzera kune zviratidzo zvikuru zvina izvi, zvimwe zviratidzo zvinogona kuoneka. Asi izvi hazviitike kune munhu wese.

• Matambudziko emahormone: Kusagona kwepabonde zvakanaka, kusagona kwepabonde zvakanaka, kunonoka kukura, uye kunonoka kutanga kuenda kumwedzi kuvasikana.
• Zviratidzo zvine chekuita netsinga: kusagadzikana pakufamba nekufamba (ataxia), kurasikirwa nendangariro nekugona kufunga (dementia), musoro unotemwa nemusoro, kumira kufema kwenguva pfupi panguva yekurara (central sleep apnea), pfari (pfari), uye kurasikirwa nekuravira nekunhuhwirira.
• Matambudziko epfungwa: kuora mwoyo, kuzvidya mwoyo, kuvhunduka, kuchinja-chinja kwemanzwiro, uye dzimwe nguva maitiro echisimba.
• Matambudziko emudumbu weti: Kutapukirwa nezvirwere zvemudumbu nguva nenguva, kusazvidzora kweweti, uye kubuda kwechinhu chisina kukwana mudumbu redundira.

Ndezvipi zviratidzo zveWolfram syndrome type 2?

Vanhu vane chirwere cheWolfram syndrome type 2 vane zviratidzo zvakafanana nezvechirwere cherudzi rwekutanga. Zvisinei, vanogonawo kusangana nezvinotevera:

• Kubuda ropa zvisina kujairika.
• Maronda emudumbu.

Zvisinei, vanhu vane chirwere cherudzi rwechipiri vanowanzosangana nematambudziko mashoma anonzi chirwere cheshuga chinonzi insipidus uye matambudziko epfungwa.

Chii chinokonzera Wolfram Syndrome?

Sezvatakambokurukura, izvi zvinokonzerwa nezvinhu zvemajini. Chikonzero chikuru ndechekugara nhaka kwemamwe machinjiki mumajini `(WFS1)` kana `(WFS2 (CISD2)` kubva kuvabereki kuenda kuvana.

Nzira yekuziva sei chirwere ichi?

Kutaura zvazviri, kuongorora chirwere cheWolfram syndrome dzimwe nguva kunogona kuoma. Nekuti vanachiremba vanogona kurapa chiratidzo chimwe nechimwe zvakasiyana, vangasaziva nekukurumidza kuti zvese zviri muchirwere chimwe chete. Kazhinji, mushure mekunge zviratidzo zvakawanda zvaonekwa ndipo panomuka fungidziro yekuti chingave chirwere cheWolfram.

Kana chiremba achifungidzira izvi, anokurudzira kuongororwa kwemajini.Kuongororwa uku kunogona kuona nemazvo kana paine shanduko mumajini `(WFS1)` uye `(WFS2 (CISD2)`. Izvi zvinogona kusimbisa kuongororwa kwechirwere.

Wolfram Syndrome inorapwa sei?

Zvinosuwisa kuti pari zvino hapana mushonga wakajairika wekurapa chirwere ichi zvachose, kumisa kufambira mberi kwechirwere, kana kuchideredza. Parizvino, zvinongoitwa chete kudzora zviratidzo zvinomuka. Semuenzaniso:

• Vanhu vane chirwere cheshuga vanopiwa insulin kuti vadzore huwandu hweshuga muropa ravo.
• Zvishandiso zvekunzwa zvinogona kushandiswa nevaya vane dambudziko rekunzwa.
• Zvimwe zviratidzo zvinorapwawo zvinoenderana nazvo.

Pane mishonga mitsva iri kutsvakurudzwa here?

Ehe, aya mashoko akanaka! Vaongorori vari kuramba vachitsvaga mishonga mitsva inogona kuvandudza hupenyu hwevanhu vane Wolfram syndrome. Heano mamwe emishonga ari kutariswa zvakanyanya pari zvino:

• Mishonga inoderedza kukuvara kwemasero kunokonzerwa nekukanganiswa kwebasa remapuroteni.
• Kurapa majini kunogadzirisa majini akachinjwa e`(WFS1)` uye `(WFS2 (CISD2)` kana kuatsiva nemajini akanaka.
• Kurapa kwekugadzirisa tsinga (regenerative therapy) inzira yekurapa tsinga dzakakuvara kana kugadzira tsinga itsva.

Mamwe emishonga iyi atove mukuyedzwa kwekiriniki. Mamwe achiri muchikamu chekutsvagisa. Taura nachiremba wako nezvemishonga mitsva iyi. Iye achakwanisa kukuudza kana yakakodzera iwe kana mwana wako.

Wolfram Syndrome inogona kudzivirirwa here?

Zvinosuwisa kuti zvirwere zvemajini zvakaita seWolfram syndrome hazvigone kudzivirirwa.

Chirwere ichi chinouraya here?

Vanhu vane chirwere cheWolfram vanonzi vane fungidziro yakaipa. Mune imwe ongororo yakaitwa pavarwere makumi mana nevashanu, tarisiro yavo yekurarama yaive pakati pemakore makumi maviri nemashanu nemakumi mana nemapfumbamwe, neavhareji yetarisiro yekurarama inosvika makore makumi matatu. Kazhinji, chikonzero cherufu rwacho kwaive kushomeka zvishoma nezvishoma kwetsinga yeuropi, chikamu cheuropi chinodzora mabasa akakosha akadai sekufema nekurova kwemoyo.

Zvisinei, mamiriro ezvinhu aya ari kuvandudzika zvishoma nekuda kwekuvandudzwa kwenzira dzekuongorora, kuvandudzwa kwekutonga zviratidzo, uye tariro yekurapwa kutsva.

Ndirini paunofanira kutaura nachiremba nezvekuongororwa kwemajini?

Kana mumwe munhu mumhuri yako aine chirwere cheWolfram, kana kuti akambova nacho, zvakakosha kutaura nachiremba wako nezvekuongororwa kwemajini. Kuongororwa ropa kana sampu yemate kunogona kukuudza kuti:

• Ndeipi njodzi yako yekuva nemwana ane chirwere ichi?
• Tsvaga kana mwana wako aine chirwere cheWolfram syndrome zviratidzo zvisati zvaonekwa.

Kunyangwe pari zvino pasina mushonga weWolfram syndrome, tsvakurudzo nemiedzo yekiriniki yakaratidza kuti kune tariro yekurapa kutsva. Kana iwe kana mumwe munhu mumhuri yako aine Wolfram syndrome, bvunza chiremba wako nezvemiedzo iyi yekiriniki.

Kurarama nechirwere chisingawanzoitiki seWolfram Syndrome kunogona kuoma zvikuru, uye kunogona kunetsa. Asi yeuka, hausi wega. Kumbira chiremba wako kuti akubatsire, akupe ruzivo, uye pamwe kukubatsira kuti ubatane nevamwe vari kusangana nedambudziko rakafanana. Rudzi irworwo rwerutsigiro runogona kubatsira zvikuru.

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Wolfram Syndrome chirwere chisingawanzoitiki uye chakaoma kunzwisisa. Zvisinei, zvakakosha kuziva nezvacho, kuziva zviratidzo zvacho nekukurumidza, uye kutsvaga mazano akakodzera ekurapa.

• Ngwarira zviratidzo zvepakutanga: Tsvaga rubatsiro rwechiremba, kunyanya kana mwana akabatwa nechirwere cheshuga (Diabetes Mellitus) uye matambudziko ekuona (Optic Atrophy) achiri mudiki.
• Kupa Mazano Emajini Kwakakosha: Kana mumwe munhu mumhuri yako aine chirwere ichi, funga nezvekupa mazano uye kuongororwa kwemajini.
• Zviratidzo zvinogona kudzorwa: Kunyange hazvo pasina mushonga wakakwana parizvino, zviratidzo zvinogona kurapwa uye hupenyu hwemunhu hunogona kudzorwa kusvika pamwero wakati.
• Iva netariro nezvekurapa kutsva: Tsvagiridzo iri kuenderera mberi, saka tinogona kutarisira kurapwa kuri nani mune ramangwana.
• Hausi wega: Zvinogona kuoma kuramba wakasimba mupfungwa mumamiriro ezvinhu akadai. Zvisinei, tsvaga rubatsiro kubva kuna vanachiremba, mhuri, uye mapoka ekutsigira.

Ndinovimba ruzivo urwu ruchakubatsira. Kana uine zvinokunetsa, usakanganwa kubvunza chiremba.

Wolfram Syndrome, chirwere chemajini, chirwere cheshuga, kutadza kuona zvakanaka, kutadza kunzwa zvakanaka, chirwere chetsinga, DIDMOAD