Mwana wenyu ane chirwere ichi chisingawanzoitiki here? (Infantile Neuroaxonal Dystrophy - INAD) Ngatizivei izvi!

Nhasi tichataura nezvechirwere chisingawanzoitika icho vabereki vazhinji vasati vambonzwa nezvacho, asi chinobata vana. Chinonzi `(Infantile Neuroaxonal Dystrophy)` kana `(INAD)` muchidimbu. Kunyange zvazvo zita iri ringaita seratyisa zvishoma, zvakakosha kuziva nezvaro. Nekuti kana ukaona shanduko dziri mumwana wako, unofanira kutsvaga rubatsiro rwechiremba nekukasika.

Chii chinonzi `(Infantile Neuroaxonal Dystrophy - INAD)`? Ngatizvinzwisise zviri nyore!

Zvichitaurwa zviri nyore, `(INAD)` chirwere chisingawanzoitiki, chinogara nhaka chinokanganisa tsinga dzedu. Chinoitika apa ndechekuti rudzi rwemafuta, runonzi `(lipids),` runoungana mumasero etsinga zvisina kufanira. Funga nezvazvo setambo dzinotakura mashoko mumiviri yedu. Kana mafuta akaungana mutambo idzi, mashoko iwayo haafambe zvakanaka.

Chii chinoitika ipapo?

Izvi zvinoita kuti mwana atadze kudzora tsandanyama , atadze kuona zvakanaka , aomerwe nekutaura , uye atadze kukura kwepfungwa . Kazhinji, zviratidzo izvi zvinoonekwa achiri mudiki (asati asvitsa makore matatu). Zvisinei, dzimwe nguva zviratidzo izvi zvinogona kuonekwa gare gare, kureva kuti, pakukura.

Ichi chirwere chiri muchikamu che `(lipid storage disorder).` Kureva kuti, chirwere chinoitika nekuda kwekuchengetwa kwemafuta mumuviri. Zvinosuwisa kuti, hapasati pave nemushonga wakakwana wechirwere ichi chinotyisidzira hupenyu chinonzi `(INAD).`

Chii chinonzi `(Lipid storage disorder)`?

Matambudziko ekuchengetedza mafuta mumuviri iboka rezvirwere zviri muboka rezvirwere zvinogarwa nhaka. Zvichitaurwa zviri nyore, zvinokanganisa metabolism yedu, maitiro atinoshandura chikafu chatinodya kuita simba uye kubvisa tsvina kubva mumiviri yedu.

Mafuta emuviri zvinhu zvine mafuta zvinowanikwa mumasero edu, kunyanya mu myelin sheath inofukidza tsinga dziri muuropi nemumusana. Akakosha zvikuru kuhurongwa hwedu hwetsinga . Vanhu vane dambudziko rekuchengetedza mafuta vane mafuta aya akachengetwa mumiviri yavo pachinzvimbo chekushandiswa nemazvo.

Zvirwere zvekuchengetwa kwemafuta mumuviri zvakaita seINAD zvirwere zvinoramba zvichiwedzera . Kureva kuti, mafuta anowedzera kuunganidzwa mumuviri, zviratidzo zvinowedzera zvishoma nezvishoma.

Zita rekuti "Infantile Neuroaxonal Dystrophy" rinorevei?

Kunzwisisa mazwi ari muzita iri kuchabatsira kujekesa chirwere ichi zvishoma:

• Vana vacheche: `(INAD)` chirwere chinowanikwa pakuzvarwa (`(chirwere chekuzvarwa nacho)`). Zviratidzo zvinowanzoonekwa paucheche, vasati vasvitsa makore matatu.
• Neuroaxonal: Chirwere ichi chinokanganisa ma axon emasero etsinga. Ma axon aya anotakura mashoko kubva kuuropi kuenda kune dzimwe nhengo dzemuviri.
• Dystrophy: "Dystrophy" izita rekurapa rekushaya simba uye kuparara kwenyama, nhengo, uye tsandanyama zvishoma nezvishoma.

Ndeapi mamwe mazita ekuti `(INAD)`?

Vamwe vanachiremba vanodanawo chirwere ichi kuti "Seitelberger's disease," zvichibva pazita rachiremba akatanga kutsanangura chirwere ichi muma1950. Chinogonawo kunzi `(PLA2G6-associated neurodegeneration)` kana `(PLAN)`.

Ndedzipi mhando huru dze `(INAD)`?

Chirwere ichi chinonzi neuroaxonal dystrophy chinowanzoonekwa muvana vacheche. Vanachiremba vanotiwo chirwere ichi chinonzi INAD. Sezvinoratidzwa nezita racho, zviratidzo zvinotanga muvana vacheche.

Kune rumwe rudzi, runonzi `(atypical INAD (aNAD))`. Muchiitiko ichi, zviratidzo zvinoonekwa pazera remakore mana, dzimwe nguva kunyange gare gare, muhudiki. Vana ava vanogona kunge vachinonoka kutaura , kana kuti vanogona kunge vaine `(autism spectrum disorder)`. Rudzi urwu rwechirwere haruwanzoitiki.

`(INAD)` yakajairika zvakadii?

Ichi chirwere chisingawanzoitiki , chinobata mwana mumwe chete pavana zana kusvika pamamiriyoni maviri.

Chii chinokonzera kuumbwa kwe `(INAD)`?

Vana vane `(INAD)` vanogara nhaka shanduko (mutation) mujini `(PLA2G6)` kubva kuvabereki vese. Jini iri rinobatsira kugadzira `(enzyme)` (rudzi rweprotein) inonzi `(A2 phospholipase)`. Iyi `(enzyme)` inoputsa rudzi rwemafuta inonzi `(phospholipids)`. Kana metabolism yemafuta ikaitwa nemazvo, masero etsinga anowana hutano.

Muvana vane `(INAD)`, jini iri rakachinjwa re`(PLA2G6)` rinokanganisa kugadzirwa uye kushanda kwe`(enzyme)` iyoyo. Zvadaro, zvinhu zvakaita sedenderedzwa zvinonzi `(spheroid bodies)` zvinotanga kuiswa mutsinga. Izvi zvinowanzoiswa mutsinga dzinobatana nemaziso, tsandanyama, neganda. Zvakare, simbi inogona kuiswa muuropi.

Ndiani ari panjodzi yekubatwa ne `(INAD)`?

Kurwara kwevana vacheche chirwere che neuroaxonal dystrophy chirwere chinokonzerwa ne autosomal recessive disorder. Izvi zvinoreva kuti kuti mwana awane chirwere ichi, vabereki vese vanofanira kugara nhaka kopi yejini rePLA2G6 rakachinja. Vabereki vemwana ndivo vanozotakura jini rakachinja, asi havazoiti chirwere ichi.

Fungidzira, kana vabereki vese vari vatakuri vejini iri rakachinja, mwana wese wavanenge vanaye ane mukana unotevera:

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* Pane mukana mumwe chete pavana wekuva nemwana ane hutano asina kugara nhaka jini remutant.

* Pane mukana mumwe chete pavana wekuzvarwa nechirwere ichi `(INAD)`.

* Pane mukana mumwe chete pavaviri wekusava nechirwere ichi, asi kuva mutakuri wejini rakachinja.

Ndezvipi zviratidzo zvechirwere che `(INAD)`?

Muchiitiko cheINAD chekare, mwana wako anogona kukura zvakanaka kubva pamwedzi mitanhatu yekutanga kusvika pamakore angangoita matatu ekuberekwa.. Kureva kuti, zvinhu zvakaita sekugara, kukambaira, kufamba, uye kutaura zvinotanga zvakajairika. Zvadaro, zvishoma nezvishoma, hunyanzvi uhu hunodzidzwa hunotanga kurasika . Chikonzero cheizvi kazhinji kupererwa netsandanyama. Nekuda kweizvozvo, kushaya simba kwetsandanyama (`(hypotonia)`), zvinoreva muviri wakaremara, kunoonekwa, kunyanya munzvimbo yehunde. Sezvo chirwere ichi chichienderera mberi, kuomarara kwetsandanyama (`(spasticity)`) kunogona kuitika.

Vana vane INAD vanogonawo kuona zviratidzo zvakaita se:

• `(Ataxia)` (matambudziko ekuenzanisa uye kubatana kwemafambiro)
• Kuoma kumedza (dysphagia)
• Kutadza kunzwa
• Kusakwanisa kubata musoro wakatwasuka, kusakwanisa kudzora musoro
• Kurasikirwa nendangariro nehungwaru, izvo zvinogona kufambira mberi ku dementia
• Kubatwa nepfari
• Kuoma kutaura nekuda kwekushaya simba kwetsandanyama (dysarthria)
• Mamwe matambudziko emaziso, akadai se strabismus, kudhonzwa kwemaziso (nystagmus), kana kurasikirwa nekuona

Vacheche vane INAD vanogonawo kuva nezvimwe zvinhu zvechiso zvinoonekwa pakuzvarwa:

• Maziso akapatsanurwa (strabismus)
• Nzeve hombe, dzakaderera
• Hurukuro yakabudikira
• Mhino diki kana chirebvu

Chirwere che `(INAD)` chinoonekwa sei?

Kana mumwe munhu mumhuri yako aine chirwere ichi, bvunzo yemwana asati aberekwa inogona kuona kana mwana akagara nhaka shanduko iyi. Ongororo inonzi Chorionic Villus Sampling (CVS) inotora masero kubva muplacenta yoongorora shanduko yemajini.

Aya ndiwo maedzo anoitwa pavacheche, vana, nevakuru:

• Kuongororwa kweropa kunotsvaga jini rakachinja `(PLA2G6)`. Kuongororwa kwemajini uku kunogona kuona vana vasere pavana gumi vane `(INAD).`
• Kuongororwa kwe "Electroencephalogram - EEG" kuti uone kana paine pfari.
• Kuongororwa kweMRI kuti uone shanduko dziri kuitika muuropi.
• Miedzo yakaita se electromyogram (EMG) inoyera mashandiro etsinga.
• Kuongororwa kweganda (biopsy) inzira yekuongorora ganda kana tsinga. Izvi zvinoitwa kuti zvionekwe kana paine masero madiki ari mumasero aya.

Chirwere cheInfantile Neuroaxonal Dystrophy (INAD) chinorapwa sei?

Zvinosuwisa kuti hapana mushonga weInfantile Neuroaxonal Dystrophy. Kurapa kuri kuitwa pari zvino kunotarisa pakudzora zviratidzo uye kubatsira mwana kuti anzwe akasununguka sezvinobvira. Kurapa uku kunosanganisira:

• Mishonga Inorwisa Kubata Chipfukuto
• Chubhu yekudyisa (kudya kwemukati)
• Mushonga wekuzorodza tsandanyama dzakasimba
• Mishonga yekurwadziwa
• Kurapa muviri uye chimiro chakakodzera chemuviri kutsigira musoro wemwana netsandanyama dzisina simba
• Mishonga yekunyaradza

Ndeapi mishonga mitsva yakagadzirwa ye `(INAD)`?

Nyanzvi dzezvekurapa dziri kuita tsvakurudzo nemiedzo yekiriniki kuti dzitsvage nzira itsva dzekumisa kupararira kwechirwere ichi uye pamwe kuchirapa. Mishonga iri kugadzirwa parizvino inosanganisira:

• Kurapa kwekutsiva ma enzyme (kupa enzyme isina kukwana kunze)
• `(Kurapa majini)` (Kurapa majini)

Chirwere ichi (INAD) chinogona kudzivirirwa here?

Kana iwe nemumwe wako muine gene mutation inokonzera INAD (kureva kuti, kana muri vaviri muri kutakura), munogona kusangana nenyanzvi yezvemajini kuti mutaure nezvenzira dzekudzivirira kuti isapfuudzirwe kuvana venyu. Imwe sarudzo inonzi Preimplantation Genetic Diagnosis (PGD). Muizvi, mazai anogadzirwa kuburikidza neIVF (in vitro fertilization) anosarudzwa uye anoiswa muchibereko.

Ndeipi tarisiro yeramangwana yemwana ane `(INAD)`?

Mwana ane `(INAD)` anogona kutaridzika semwana anoteerera uye akangwarira mumakore mashoma ekutanga. Asi sezvo chirwere ichi chichienderera mberi, unogona kuona kuti kuona kwemwana, kutaura, hunyanzvi hwekufamba kwemuviri, uye kugona kwake kutaurirana nevamwe zvinoderera zvishoma nezvishoma. Chirwere ichi chinogonawo kukanganisa kufema . Izvi zvinogona kukonzera hutachiona hwekufema hwakadai se`(pneumonia)`. Vana vazhinji vane `(INAD)` vanofa vasati vasvitsa makore gumi .

Vana vane chirwere cherudzi rusina kujairika (aNAD) vanotanga kuratidza zviratidzo pakati pemakore manomwe negumi nemaviri. Kunyangwe vachirarama kwenguva yakareba kupfuura vana vane chirwere cherudzi rwakajairika (INAD), hupenyu hwavo hunopfupikiswawo.

Kuchengeta mwana ane chirwere chakakomba chakadai kunonetsa mupfungwa nemumuviri . Uri panjodzi yekusangana nematambudziko akadai sekushushikana nekuora mwoyo. Saka, iva nechokwadi chekukumbira rubatsiro, kuwana nguva yako wega, uye edza kuwana mufaro muzvinhu zvidiki zvinokuunzira mufaro nemhuri yako .

Unofanira kuona chiremba rini?

Enda kuna chiremba kana mwana wako aine chimwe chezviratidzo izvi:

• Matambudziko ekuenzanisa, kufamba, kana kufamba
• Kuoma kufema
• Kushaya simba kwetsandanyama kana kugwinha
• Kuoma kutaura kana kumedza
• Matambudziko ekuona kana kunzwa

Mibvunzo ipi yaunofanira kubvunza chiremba wako?

Zvakanaka kubvunza chiremba wako nezvezvinhu zvakaita se:

• Mwana wangu ane rudzii rwe `(INAD)`?
• Ndezvipi zvirongwa zvinogona kubatsira?
• Chii chatingaita kumba kuderedza zviratidzo?
• Ndivanaani vanachiremba vatinofanira kusangana navo?
• Vamwe vese vemhuri yangu vanofanira kuongororwa kuti vane chirwere ichi here kana kuti kwete?
• Ndezvipi zvinetso zvandinofanira kungwarira?

Pakupedzisira, zvekurangarira (Mharidzo Yekuenda Kumba)

Kuwana kuti mwana wako ane chirwere chisingarapiki senge Infantile Neuroaxonal Dystrophy (INAD) chiitiko chinochinja hupenyu. Dambudziko iri rekuchengetedza mafuta mumuviri rinokanganisa kugona kwemwana wako kufamba, kuona, kudya, uye kutaura. Kunyange zvazvo zviratidzo zvichigona kugadziriswa uye mwana wako achigona kugadzikana, hapasati pave nemushonga . Zvisinei, tsvakurudzo itsva nemiedzo yekiriniki iri kuenderera mberi . Kana uine shanduko inokonzera INAD (mutakuri), taura nachiremba wako nezvenzira dzekuderedza njodzi yekuipfuudza kuzvizvarwa zvinotevera. Usambozvirega uri wega, tsvaga rubatsiro rwaunoda .

INAD , infantile neuroaxonal dystrophy, chirwere chekuchengetwa kwemafuta, chirwere chemajini, chirwere chisingawanzoitiki, hutano hwevana, kuora kwetsinga, zvirwere zvemajini, zvirwere zvisingawanzoitiki, hutano hwevana