Mwana wako ane zviratidzo izvi here? Ngatikurukurei nezveLeigh Syndrome!

Zvinofadza kuona mwana achangoberekwa, handiti? Asi dzimwe nguva, kunyangwe vachiratidzika kunge vane hutano pakutanga, vanogona kutanga kuratidza zviratidzo zvisinganzwisisike mushure memwedzi mishoma. Kana vachinetseka nekuyamwisa, kuchema zvakanyanya, kana kuva nepfari, izvi zvinogona kuva zviratidzo zvechirwere chemajini chisingawanzoitiki chinonzi Leigh Syndrome. Izvi zvinorwadza mwoyo zvechokwadi, asi zvakakosha kuziva nezvazvo.

Chii chinonzi Leigh Syndrome? Zvichitaurwa zviri nyore...

Leigh Syndrome, inozivikanwawo seLeigh's Disease, chirwere chisingawanzoitiki chemajini. Chinonyanya kukanganisa sisitimu yetsinga yemwana wako. Kureva, uropi, musana, uye tsinga. Fungidzira, mwana ane chirwere ichi anotaridzika kunge akagwinya nguva zhinji paanozvarwa. Asi nekufamba kwenguva, masero ari musisitimu yake yetsinga anoderera zvishoma nezvishoma kana kutofa.

Zviratidzo izvi zvinowanzotanga mwana paanosvika mwedzi mitatu, kana kuti asati asvitsa makore maviri. Zvinhu zvekutanga zvaunoona kuoma kuyamwa, kuramba kudya, kuchema pasina chikonzero, uye pfari.

Zvinosuwisa kuti hapana mushonga usingaperi weLee syndrome. Idambudziko rinoisa upenyu panjodzi. Vana vazhinji vane chirwere ichi vanofa vasati vasvitsa makore matatu. Zvisinei, kashoma, chirwere ichi chinogona kuitika kune vakuru kana vadiki.

Zvirwere zveMitochondria chii? Mafekitori esimba emiviri yedu!

Kuti tinzwisise izvi, tinofanira kutanga taziva zvishoma nezve mitochondria . Zvichitaurwa zviri nyore, mitochondria yakafanana nemafekitori madiki esimba ari mukati memasero emuviri wedu. Aya ndiwo anogadzira simba kubva kumafuta acids neglucose muchikafu chatinodya uye anochishandura kuita chinhu chinonzi adenosine triphosphate (ATP) . Iyi ATP ndiyo inopa masero edu simba rekushanda.

Mitochondria inowanikwa mumasero ese kunze kwemasero edu matsvuku eropa. Zvirwere zveMitochondria zvirwere zvinoitika kana mitochondria idzi dzisingashande zvakanaka. Masero haawani simba raanoda, izvo zvinoita kuti masero akuvara kana kufa.

Sisitimu yedu yetsinga inoda simba rakawanda kuti ishande. Muchirwere cheLee, masero ari musisitimu yetsinga yemwana, kunyanya masero anopa simba kuuropi, tsinga, nemusana, anokuvadzwa kana kuparadzwa.

Pane mamwe mazita eLeigh Syndrome here?

Ehe, chirwere ichi chakatumidzwa kekutanga nachiremba wekuBritain Archibald Denis Leigh, uyo akachitsanangura muna 1951. Akachitumidza kuti Subacute Necrotizing Encephalomyelopathy (SNE) .Encephalomyelopathy chirwere chinokanganisa uropi nemusana. Zvisinei, vanachiremba vazhinji nhasi vanochidana kuti Lee syndrome kana kuti chirwere cheLee.

Ndeapi marudzi makuru eLeigh Syndrome?

Kune mhando dzinoverengeka huru dzeLee syndrome:

• Chirwere cheInfantile Leigh Syndrome: Ichi ndicho chirwere chinowanzoitika. Zviratidzo zvinoonekwa mwana asati asvitsa makore maviri. Ichi chinonziwo Classical Leigh Syndrome. Chinobata varume nevakadzi zvakaenzana.
• Chirwere cheLee chevakuru: Zviratidzo zvinoonekwa mushure memakore maviri, dzimwe nguva mukuyaruka kana kutanga kwekukura. Izvi hazviwanzoitiki. Rudzi urwu runowanzobata varume. Uyewo, chirwere chinokura zvishoma nezvishoma kupfuura rudzi rwekutanga.
• Leigh-like syndrome: Muchiitiko ichi, munhu anogona kuratidza zvimwe zvezviratidzo zveLeigh syndrome, asi mifananidzo yekuongorora hairatidzi zviratidzo zvechirwere muuropi.

Chirwere ichi chakajairika zvakadii?

Chirwere cheLee chekare (chepakutanga) chinofungidzirwa kuti chinoitika muvana vacheche vanosvika zviuru makumi mana pasi rose. Zvisinei, chinowanzoitika mune dzimwe nzvimbo. Semuenzaniso:

• Mwana mumwe chete pavana 2,000 vachangoberekwa mudunhu reLac-Saint-Jean muQuebec, Canada.
• Mwana mumwe chete pavana 1,700 vachangoberekwa muFaroe Islands, iri pakati peIceland neScotland.

Chikonzero chaicho cheizvi hachina kuwanikwa.

Chii chinokonzera chirwere cheLeigh?

Nyanzvi dzakaona kuti Lee syndrome inogona kukonzerwa nekuchinja kwemajini anopfuura 75. Kuchinja uku kunokanganisa kugona kwemuviri wedu kugadzira ATP (simba).

Vana vasere pavana gumi vane chirwere cheLee vanowana chirwere ichi nenzira mbiri huru:

1. Autosomal recessive disorder: Muizvi, mwana anogara nhaka gene mutation imwe chete kubva kuvabereki vese. Vabereki ndivo chete vanotakura gene mutation iyi uye havana chirwere ichi.

2. X-linked recessive genetic disorder: Izvi zvinokonzerwa nekuchinja kwemajini paX chromosome. Zvinogona kubva kuna amai kana baba. Kana amai vaine kuchinja uku pane imwe yemaX chromosomes avo, pane mukana we1 pa4 wekuti mwanakomana kana mwanasikana wavo achagara nhaka yekuchinja uku. Kana mukomana akagara nhaka yekuchinja uku, achatanga Lee syndrome; musikana haazodaro. Zvisinei, mwanasikana anogona kupa jini rakakanganisika kuvana vake vemangwana. Baba vanogona kupa chromosome yeX yakachinja kumwanasikana wavo, asi kwete kumwanakomana wavo.

Kuchinja kweDNA yemitochondrial kunokonzera sei Lee syndrome?

Vana vaviri pavana gumi vane mitochondrial DNA (mtDNA)Kuchinja kwemajini kunotorwa kubva kuna amai. Kuchinja uku kunogona kupfuudzwa kuvanhurume nevanhukadzi. Zvinogona kukanganisa zvizvarwa zvese zvemhuri. Kashoma, kuchinja kwemajini kwega kwega kunogona kuitika. Kuchinja kwemajini kwemtDNA kunowanzoitika muLeigh syndrome ndiko kunodzivirira majini e`MT-ATP6` kugadzira `ATP`.

Ndezvipi zviratidzo zveLeigh Syndrome?

Zviratidzo zveLee syndrome zvinowanzoonekwa mukati memakore maviri ekutanga ehupenyu hwemwana. Pakutanga, mwana wako anogona kusvika padanho rekukura rakajairika, sekusimudza musoro wake wakatwasuka. Zvadaro, anodzokera shure zvishoma nezvishoma, zvichireva kuti anorasikirwa nehunyanzvi uhwu kana kuratidza kunonoka kwemuviri kana kukura.

Zviratidzo zvekutanga zveLee syndrome zvinosanganisira:

• Kuoma kumedza ( dysphagia ), matambudziko ekuyamwa kana ekudya zvisina kunaka.
• Manyoka nekurutsa.
• Kushaikwa kwetsinga dzemuviri ( hypotonia ).
• Kugara uchinetseka uye uchichema nguva dzose.
• Kusasimba mukutonga musoro uye mafungiro.

Sezvo chirwere ichi chichienderera mberi, zvimwe zviratidzo zvinogona kuoneka. Zviratidzo izvi zvinogona kuonekwawo muzvikamu zvekupedzisira zveLee syndrome. Zvinosanganisira:

• Chirwere chakadai sechirwere chepfungwa (dementia ).
• Matambudziko ekufamba uye kuenzana, semuenzaniso ataxia (kugumburwa uchifamba, kurasikirwa nekuenzana).
• Kuomerwa nekududza mazwi nemazvo ( dysarthria ).
• Kusunga tsandanyama kusingatarisirwi ( dystonia ).
• Kugwinha kana kuomarara kwetsandanyama ( spasticity ).
• Kuoma mitezo zvishoma.
• Kushaya simba kwetsinga mumakumbo ( peripheral neuropathy ).
• Kuzvimba.
• Kunonoka kukura kwemuviri.

Leigh Syndrome inokanganisa sei kuona?

Lee syndrome inogonawo kukanganisa tsinga dzemaziso, zvichikonzera matambudziko akadai se:

• Maziso akapatsanurwa ( strabismus ).
• Kupera kwemaziso ( optic nerve atrophy ).
• Kushaya simba kana kuoma mitezo yemaziso.
• Kufamba-famba kwemaziso nekukurumidza kusingatarisirwi ( nystagmus ).
• Kurasikirwa nekuona.

Muzvikamu zvinotevera, vechidiki kana vakuru vane chirwere cheLee vanogona kutanga kuva nechirwere cheganda risingaonekwe zvakanaka uye kurasikirwa nekuona zvakanaka pakati pemuviri ( kuona zvishoma ).

Ndezvipi zvinetso zvinogona kuitika neLeigh Syndrome?

Lactic acidosis inokonzerwa nekuunganidzwa kwelactic acid muropa remwana nekuda kweLee syndrome.Izvi zvinogona kuitika. Miviri yedu inogadzira lactic acid kana huwandu hweokisijeni mumasero hwaderera zvakanyanya kuti hutsigire metabolism yavo (kushandura makabhohaidhiretsi kuita simba). Uyewo, huwandu hwekabhoni dhayokisaidhi muropa ravo hunogona kuwedzera.

Kuwanda kwe carbon dioxide muropa uye lactic acidosis kunogona kukonzera zvinotevera:

• Matambudziko ekufema: kufema kushoma ( dyspnea ), kufema kwenguva pfupi ( apnea ), uye kufema kusingawanzoitiki kana nekukurumidza ( hyperventilation ).
• Chirwere chemwoyo: kukora kwetsandanyama dzemwoyo ( hypertrophic cardiomyopathy ).
• Matambudziko eitsvo.

Chirwere cheLeigh chinowanikwa sei?

Chiremba wako anogona kuraira bvunzo dzakadai sedzinotevera:

• Kuongororwa kweropa: Tarisa zviratidzo zvema enzyme zvinoratidza lactic acidosis uye Leigh syndrome.
• Miedzo yekufungidzira yakaita seMRI (Magnetic Resonance Imaging) scans: Tarisa kana paine kukuvara kwetsinga dzeuropi (maronda).
• Kuongororwa kwemajini: Kuti uwane kuti ndechipi chaizvo chinjo yemajini chiri kukonzera chirwere ichi.

Chirwere cheLeigh chinorapwa sei?

Zvinosuwisa kuti hapana mushonga usingaperi weLee syndrome. Kurapa kwacho kunonyanya kuitirwa kudzora zviratidzo uye kupa nyaradzo kumwana. Ichi chirwere chinouraya.

Mwana wako anogona kuwana zororo kubva pane zvinhu zvakaita se:

• Rapa lactic acidosis ne citric acid (sodium citrate) kana sodium bicarbonate .
• Kubaya thiamine (Vitamin B1) kuti chirwere chisarambe chichikura.

Vamwe vana vane kushaya ma enzyme vanogona kubatsirwa nekudya zvine mafuta akawanda uye zvine makabhohaidhiretsi mashoma. Vamwe vana vane dambudziko rekudya vangada kupihwa chikafu kuburikidza nechubhu (`enteral nutrition`).

Ungaitei kana mwana wako aine Leigh Syndrome?

Kuchengeta mwana ane chirwere chinomutadzisa kurarama kunogona kuva kwakaoma. Heano mamwe maitiro aunogona kuita kuti uderedze kushushikana, kuzvidya mwoyo, uye kuora mwoyo kwaunganzwa panguva iyi:

• Tsvaga nzira dzakanaka dzekuderedza kushushikana: sekutaura neshamwari kana kuita chimwe chinhu chaunofarira.
• Joyina boka rekutsigirana: Iri rinogona kuva boka rekuonana kana repamhepo. Kutaura nevamwe vabereki kunogona kukubatsira kuti usanyanya kusurukirwa.
• Ziva zvakanaka nezvemamiriro emwana wako, zviratidzo zvake zvakasiyana, uye kufambira mberi kwechirwere.
• Zvipe nguva yako.Unogona kutarisira mwana wako zvakanaka chete kana uri mutano.
• Wana rubatsiro rwaunoda kumwana wako: rwakadai serubatsiro rwehutano hwepamba uye rubatsiro rwekuvandudza hutano.
• Taura nenyanzvi yehutano hwepfungwa . Ino inguva yakaoma zvikuru, saka usazeza kukumbira rubatsiro.

Ramangwana remunhu ane Leigh Syndrome rakaita sei?

Vana vazhinji vane chirwere cheLee vanofa nekuda kwekutadza kufema zvakanaka pavanosvika makore matatu. Hazviwanzoitiki kuti mwana ane chirwere cheLee atange achiri mudiki ararame kusvika ava munhu mukuru. Vanhu vanowana chirwere cheLee pavanenge vava vanhu vakuru vanogona kurarama kusvika pamakore makumi mashanu.

Ko Leigh Syndrome inogona kudzivirirwa here?

Kana uine mwana ane chirwere cheLee syndrome, unogona kuongororwa majini kuti uone kana iwe kana mumwe wako mune gene mutation inoikonzera. Unogona kusarudza kusangana nenyanzvi yezvemajini kuti mukurukure nzira dzekuderedza njodzi yekuti vana vemangwana vagare nhaka gene mutation.

Unofanira kuona chiremba rini?

Kana mwana wako aine chimwe chezviratidzo izvi, enda kuna chiremba nekukasika:

• Kunonoka kukura kana kurasikirwa nehunyanzvi hwaimbovapo.
• Kuomerwa nekufema, kudya, kana kumedza.
• Kuzvimba.
• Kunonoka kukura kwemuviri.

Chii chandinofanira kubvunza chiremba wangu?

Unogona kubvunza chiremba wako mibvunzo yakaita seiyi:

• Chii chinokonzera mwana wangu kuti aite chirwere cheLee?
• Ndezvipi zvirongwa zvinogona kubatsira mwana wangu?
• Ndingaitei kuti ndibatsire mwana wangu kumba?
• Ini nemumwe wangu tinofanira kuongororwa majini here?
• Ndinofanira kuziva zviratidzo zvematambudziko here?

Pakupedzisira, zvinhu zvekurangarira (Mharidzo Yekuenda Kumba)

Zvakajairika kunzwa wakaremerwa uye wakasuruvara paunoziva kuti mwana wako ane chirwere chisingawanzoitiki, chinotyisidzira hupenyu . Asi yeuka kuti hausi wega. Zvakakosha kutsvaga kurapwa kubva kuna vanachiremba vane ruzivo nezvechirwere ichi. Nekuti Lee syndrome inogona kukanganisa nhengo dzakasiyana dzemuviri wemwana wako, kusanganisira uropi, maziso, moyo, neitsvo, ungangoda kuona nyanzvi dzakasiyana-siyana.

Vanachiremba ava vanogona kukubatsira kugadzirisa zviratidzo zvako uye kukubatanidza nerutsigiro rwaunoda iwe nemwana wako. Ipapo unogona kunakidzwa nenguva yako nemwana wako zvakanyanya sezvinobvira. Rwendo urwu rwakaoma, asi nerudo, rutsigiro, uye mazano ekurapa akakodzera, uchava nesimba rekutarisana nedambudziko iri.

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