Unoziva nezvePURA syndrome here? Ziva zvinhu izvi kuti zvive zveramangwana remwana wako!

Unombova nekusava nechokwadi kana kutya nezvekukura kwemwana wako here? Dzimwe nguva vacheche vanodzidza zvinhu zvishoma nezvishoma, kana kuti mamwe matambudziko ehutano anomuka. Dzimwe nguva dzakadai, zvinogona kukosha kuziva nezvechirwere chisingawanzoitiki chinonzi PURA syndrome. Kana izvi zvichinzwika sezvisina kunaka, usavhunduke. Ngatitaure nezvazvo zviri nyore.

Chii chinonzi PURA syndrome?

Zvichitaurwa zviri nyore, chirwere chePURA chirwere chisingawanzoitiki chemajini . Chinonyanya kukanganisa sisitimu yedu yetsinga . Kureva kuti, uropi netsinga ndizvo zvinonyanya kukanganiswa. Nekuda kweizvi, kukura kwemwana kunogona kunonoka kubva pakuva pakati nepakati kusvika pakuva kwakanyanya . Chinogonawo kukonzera matambudziko ekudzidza. Kazhinji, vana vane chirwere chePURA vanogona kunetseka nekufamba, pfari kana pfari, nezvimwe zvinetso zvehutano.

Vaongorori vanotenda kuti izvi zvinokonzerwa nekuchinja, kana kuti kuchinja-chinja, mumajini anobatanidzwa mukukura kweuropi nemasero etsinga (masero etsinga / ma neuron). Vana vanozvarwa vane chirwere ichi vanogona kunetseka nekudya nekufema pakutanga. Zvisinei, izvi dzimwe nguva zvinovandudzika mushure mechinguva. Zvisinei, vana vazhinji vangasakwanisa kutaura kana kufamba vega pavanokura.

Parizvino hapana mushonga wePURA syndrome. Zvisinei, kurapwa kwakakodzera kunogona kukubatsira iwe nemwana wako kugadzirisa zviratidzo uye kuderedza matambudziko. Saka , zvakakosha kuziva chirwere ichi nekukurumidza .

Ndiani anogona kuwana chirwere chePURA?

PURA syndrome chirwere chekuzvarwa nacho . Izvi zvinoreva kuti chirwere ichi chinogona kuvapo pakuzvarwa. Chinokanganisa tsinga dzemuviri. Dzimwe nguva, chirwere ichi chinogona kupfuudzwa kubva kuvabereki kuenda kuvana kuburikidza nemajini. Zvisinei, zvakakosha kuyeuka kuti mwana anogona kuva nePURA syndrome kunyangwe pasina munhu mumhuri akambova nechirwere ichi . Izvi zvinoreva kuti panogona kunge paine shanduko itsva yemajini.

Ndezvipi zvimwe zvinhu zvakafanana neizvi?

Zviratidzo zvePURA syndrome zvinogona kufanana nezvimwe zvirwere, saka dzimwe nguva zvinogona kuoma kuti vanachiremba vazive nekukurumidza kana iri PURA syndrome. Heano mamwe mamiriro ezvinhu ane zviratidzo zvakafanana:

• `(Angelman syndrome)`
• Congenital central hypoventilation syndrome - Ichi chirwere chisingawanzoitiki chetsinga chinokanganisa kufema.
• Myotonic dystrophy - Iyi iboka rezvirwere zvemutsinga zvinonzi muscular dystrophy.
• Zvirwere zvine chekuita neneurotransmitter - semuenzaniso, chirwere cheAlzheimer kana chirwere cheParkinson.
• Pitt-Hopkins syndrome - Ichi chirwere chisingawanzoitiki chemajini chinokonzera kunonoka kukura uye pfari.
• `(Dambudziko rePrader-Willi)`
• `(Rett syndrome)`

Nekuti zviratidzo izvi zvakafanana , bvunzo dzakakosha dzinodiwa kuti chirwere chiongororwe nemazvo .

Pane mamwe mazita ePURA syndrome here?

Ehe, dzimwe nguva vanachiremba vanogona kudana chirwere ichi nemamwe mazita esainzi. Zvakanaka kuzivawo zvishoma nezvazvo, handiti? Semuenzaniso:

• `(Kunonoka kwekukura kwepfungwa, autosomal dominant 31)`
• `(Chirwere chetsinga chine chekuita nePURA)`
• `(PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome)`

Kunyange zvazvo mazita aya angaita seakaoma zvishoma, ose anotaura nezvemamiriro ezvinhu akafanana.

Chirwere chePURA chakajairika zvakadii?

Chirwere chePURA chirwere chisingawanzoitiki . Kusvika pari zvino, vanhu vakuru nevana vanopfuura 470 vakashumwa kuti vane chirwere ichi pasi rose. Fungidzira, vanhu vashoma kudaro. Nyanzvi dzezvekurapa dzakatanga kutaura nezvechirwere ichi muna 2014. Izvi zvinoreva kuti chirwere chitsva.

Chii chiri hukama huripo pakati pePURA syndrome nepfari?

Vanhu vazhinji vanozvarwa vaine chirwere chePURA vane mukana wakawedzerwa wekuva nepfari . Dzimwe nguva iyi inogona kunge iri mhando yepfari isingapindure kana yashandiswa mishonga. Izvi zvinoreva kuti zvakaoma kudzora nemishonga. Mhando dzepfari dzinonyanya kuzivikanwa ifocal seizures kana generalized seizures. Zviratidzo izvi zvinowanzotanga muhucheche kana muhudiki .

Ndezvipi zvinokonzera chirwere chePURA? (Muchidimbu)

Sezvatatotaura, chikonzero chikuru chePURA syndrome kuchinja kwemajini chaiwo mumuviri wedu kunonzi `(PURA gene)`. Iri `(PURA)` jini rine basa rakakosha mukukura kwehuropi kwakajairika. Saka, kana paine chikanganiso mumajini aya, chinogona kukanganisa kukura kwemaseru etsinga `(neurons)` uye kuumbwa kwechinhu chinonzi `(myelin)`. `(Myelin)` chinhu chinofukidza tsinga dzedu uye chinobatsira masaini kufamba nepakati padzo nekukurumidza. Saka fungidzira kuti basa rehuropi rinokanganiswa sei kana maitiro aya akanganiswa.

Ndezvipi zviratidzo zvePURA syndrome?

Zviratidzo zvePURA syndrome zvinogona kukanganisa nhengo dzakasiyana dzemuviri. Vana vanozvarwa vaine chirwere ichi vane matambudziko ekudzidza ari pakati nepakati kusvika pakanyanya uye vanononoka kukura .

Zviratidzo zvinogona kuonekwa muvana vacheche:

• Kazhinji pane dambudziko rekudya kana kufema .
• Rubatsiro rwechiremba (kudyisa kana machubhu ekufema) rungangodiwa, asi matambudziko ekufema anowanzova nani mukati megore.
• Kuomerwa nekudya kana kumedza (dysphagia) dzimwe nguva kunogona kuva kwenguva refu uye kunogara kwenguva inopfuura gore.

Zviratidzo zvinogona kuonekwa muvana vakura zvishoma:

• Ungasakwanisa kufamba zvakanaka , uye hunyanzvi hwako hwekufamba netsoka hunogona kunge hwakakanganisika.
• Kunyangwe uchinzwisisa mutauro wacho, ungasakwanisa kuutaura .
• Kunyangwe vachigona kutaura, vanogona kutaurirana nemashoko mapfupi kana mitsara .

Vanhu vazhinji vane chirwere chePURA vanonzwa pfari (epilepsy) kana mafambiro epfari. Izvi zvinowanzo kuve:

• Zvinotanga usati wasvitsa makore mashanu. Zvinogona kutanga sekukwenya kwetsandanyama kusingatarisirwi (myoclonus).
• Zvakaoma kudzora .
• Dzimwe nguva inogona kukura kuita rudzi rwakaoma uye rwakaoma rwepfari inonzi "Lennox-Gastaut syndrome".

Zvimwe zviratidzo zvinowanzoonekwa muvana nevakuru:

• Matambudziko emapfupa nemajoini - akadai se hip dysplasia uye scoliosis.
• Matambudziko ekufema - kudzipwa panguva yekurara (sleep apnea) kana kufema zvishoma nezvishoma (hypoventilation).
• Kuoma kudziyisa muviri (hypothermia).
• Kuneta zvakanyanya uye hope (hypersomnia).
• Matambudziko emaziso - akadai se strabismus.
• Kunzwa kusvotwa kakawanda.
• Matambudziko emudumbu - akadai sekuvimbiwa.
• Kunzwa tsandanyama dzisina kusimba (hypotonia).
• Kusagadzikana kana kuoma kufamba (kusagadzikana kwekufamba).
• Kutadza kuona zvakanaka.

Zviratidzo zvisingawanzoitiki:

• Zvikanganiso zvemwoyo.
• Matambudziko ehurongwa hwe endocrine - akadai sekushomeka kwevhitamini D kana kuti kuyaruka panguva yekukura.
• Matambudziko emudumbu uye ekubereka.

Chirwere chePURA chinoonekwa sei?

Chirwere chePURA chinogona kuoma kuchiongorora zvichibva pakuongororwa kwemuviri chete. Sezvatakambotaura, zviratidzo zvacho zvinogona kunge zvakafanana nezvimwe zvirwere. Saka, vanachiremba vanofanirwa kuita bvunzo dzemajini kuti vaone kuti chirwere ichi ndechePURA .

Zvichienderana nezviratidzo zvemwana wako, chiremba anogonawo kuita mimwe miedzo. Semuenzaniso:

• Kuongororwa kweropa.
• Miedzo yekufema.
• `(EEG)` (Electroencephalogram) - Izvi zvinoedza mashandiro emagetsi europi.
• Kuongororwa kwemaziso.

Kuti uwane rumwe ruzivo, chiremba wako anogonawo kuraira bvunzo dzemifananidzo. Izvi zvinosanganisira:

• Kuongororwa kweMRI (Magnetic Resonance Imaging).
• `(Kuongororwa kweUltrasound)`.
• bvunzo ye`(X-ray)`.

Pane mushonga wePURA syndrome here?

Iri ndiro dambudziko guru kune vanhu vazhinji. Kutaura chokwadi, pari zvino hapana mushonga wakakwana wePURA syndrome.Zvisinei, kuonekwa nekukurumidza uye kurapwa kunogona kuderedza njodzi yezvinetso zvakaita se scoliosis. Vanachiremba vanogona kukurudzira kurapwa kunogona kukubatsira iwe nemwana wako kugadzirisa zviratidzo. Nekurapwa kwakakodzera, mwana wako anogona kutora chikamu muzviitiko zvakawanda sezvinobvira uye kuita kuti hupenyu huve nyore .

Ndivanaani vanogona kubatanidzwa muchikwata chekurapa chirwere chePURA chemwana wenyu?

Kana mwana wako aine chirwere chePURA, timu yezvekurapa inomurapa inogona kusanganisira nyanzvi dzakasiyana-siyana. Izvi zvinoreva kuti hakuna chiremba mumwe chete, asi vanhu vakati wandei vanoshanda pamwe chete kuti vape kurapa kwakanakisa kumwana wako. Timu yakadaro inogona kusanganisira vanhu vakaita se:

• Chiremba wemaziso.
• Nyanzvi yezvemajini.
• Chiremba ane hunyanzvi muhurongwa hwetsinga (neurologist).
• Murapi wezvemabasa - munhu anobatsira pamabasa ezuva nezuva.
• Chiremba wemapfupa.
• Chiremba wevana.
• Murapi wemuviri munhu anobatsira nezvinhu zvakaita sekufamba nekufamba.
• Chiremba ane hunyanzvi mukurapa kufema (pulmonologist).
• Nyanzvi yezvirwere zvemutauro wekutaura.

Vanhu ava vese vanoshanda pamwe chete kugadzira hurongwa hwekurapa hunonyatsoenderana nemamiriro emwana.

Chirwere chePURA chinorapwa sei?

Kurapwa kwePURA syndrome kunosiyana zvichienderana nezviratidzo zvemwana uye kuoma kwazvo . Kana mwana achangoberekwa aine PURA syndrome, anowanzo fanirwa kutariswa muchipatara uye kubatsirwa pakudya nekufema.

Vana vakuru vanowanzo kubatwa seizvi:

• Kurapa nekutaura - Kuvandudza hunyanzvi hwekutaurirana.
• Kurapa muviri - Kuvandudza kufamba.
• Muzvimwe zviitiko, kuvhiyiwa kunogona kuitwa kugadzirisa matambudziko echiso, emwoyo, emapfupa, kana mamwe.

Unogonawo kupa mwana wako zvinhu zvinotevera:

• Mishonga yekudzivirira pfari.
• Zvinobatsira pakutaurirana.
• Rutsigiro rwekudyisa kana kumedza.
• Kurapa kwemuviri uye kwebasa.
• Kurapa kwekutaura nemutauro.
• Zvishandiso zvekubatsira - zvakaita sema stroller anochinjika, ma braces, orthotics, ma walker, kana ma wheelchair.

Ndingaitei kuti ndideredze njodzi yekuti mwana wangu awane chirwere chePURA?

Izvi ndizvo zvinofungwa nevabereki vazhinji. Asi chokwadi ndechekuti, hapana nzira yekudzivirira chirwere chePURA . Zvakare,Hazvikonzerwi nechinhu chipi zvacho chaunoita. Zvinokonzereswa nekuchinja kwemajini (kuchinja kwemajini) kunoitika panguva yekukura kwemwana ari mudumbu. Saka usazvipe mhosva nazvo.

Ndeipi tarisiro yemwana ane PURA syndrome?

Chirwere chePURA chirwere chinogara kwenguva refu, chisingarapiki . Vana vazhinji vanogona kunge vaine matambudziko ekudzidza ari pakati nepakati kusvika pakanyanya uye kunonoka kukura. Vazhinji vangasakwanisa kutaura kana kufamba vega . Zvisinei, yeuka kuti kurapwa kunoshanda kunogona kupa mwana wako hupenyu huri nani . Nekurapwa, ivo vanogonawo kufara uye kukura kusvika pakukwanisa kwavo kwakazara.

Ndirini pandinofanira kutsvaga mazano ekurapwa kwemwana wangu?

Kuonekwa kwePURA syndrome nekukurumidza kwakakosha kudzora zviratidzo uye kuderedza njodzi yekusangana nematambudziko . Vanachiremba vanogona kugara vachiongorora hutano hwemwana wako nezviratidzo zvake. Chiremba wako achakubatsira kugadzira hurongwa hwekutarisira hwakagadzirirwa iwe pachako hunosangana nezvinodiwa nezvinangwa zvemwana wako.

Zvakajairika kunzwa wakaremerwa uye uchinetseka kana wabatwa chirwere chakadai sePURA syndrome. Ichi chirwere chemajini chisingawanzoitiki chinokanganisa tsinga dzemuviri, zvichikonzera matambudziko ekudzidza, kunonoka kukura, uye kazhinji pfari. Zvisinei, nekubatanidzwa kwakakodzera kwemishonga, mwana wako anogona kuva nehupenyu hwakanaka . Taura nachiremba wako nezvemishonga inoshanda inogona kuita mutsauko mwana wako paanokura. Hausi wega , uye kune vanachiremba, varapi, nevamwe vazhinji vanogona kukubatsira parwendo urwu.

Chekupedzisira, zvinhu zvinonyanya kukosha zvaunofanira kurangarira (Mharidzo Yekuenda Kumba)

Kunyange zvazvo chirwere chePURA chiri chirwere chisingawanzoitiki chemajini, zvakakosha kuti uchiziva nezvacho.

• Izvi zvinonyanya kukanganisa tsinga uye zvinogona kukonzera zvirwere zvakaita sekunonoka kukura, matambudziko ekudzidza, uye pfari.
• Kuongororwa kwechirwere nekukurumidza uye kutanga kurapwa kwakakodzera zvinobatsira zvikuru mukuvandudza hupenyu hwemwana.
• Kunyange hazvo pasina mushonga wakakwana weizvi, kune nzira dzakasiyana-siyana dzekurapa zviratidzo uye kuderedza matambudziko .
• Chikwata chevanachiremba vanobva kunyanzvi dzakasiyana-siyana chinoshanda pamwe chete kuti chipe mwana kurapwa kwakakodzera.
• Hapana nzira yekudzivirira mamiriro ezvinhu aya kuti asaitike, uye sevabereki, hamufanirwe kunzwa muine mhosva nezvazvo .
• Kana muine zvinokunetsai nezvekukura kana hutano hwemwana wenyu, musavhunduka uye tsvagai mazano kubva kuna chiremba nekukasika . Ndicho chinhu chakanakisisa chamungaita.

Yeukai, mwana wese anokosha, uye mwana wese anofanirwa kudiwa uye kutarisirwa zvakanakisisa.

'Chirwere chePURA, zvirwere zvemajini, hurongwa hwetsinga, kunonoka kukura, pfari, hutano hwevana, zvirwere zvisingawanzoitiki