Uyazazi yini i-PURA syndrome? Yazi lezi zinto ngekusasa lengane yakho!

Uke ube nokungabaza noma ukwesaba kancane ngokukhula kwengane yakho? Ngezinye izikhathi izingane zifunda izinto kancane kancane, noma kuvela izinkinga zempilo. Ngezikhathi ezinjengalezi, kungabaluleka ukuqaphela isimo esingavamile esibizwa ngokuthi i-PURA syndrome. Uma lokhu kuzwakala kungathi sína, ungesabi. Ake sixoxe ngakho kalula.

Iyini i-PURA syndrome?

Kalula nje, i-PURA syndrome iyisimo esingavamile kakhulu sofuzo . Ithinta kakhulu uhlelo lwethu lwezinzwa . Okusho ukuthi, ubuchopho nemizwa kuthinteka kakhulu. Ngenxa yalokhu, ukukhula kwengane kungabambezeleka kusukela kokuphakathi kuya kokubi kakhulu . Kungabangela nokukhubazeka kokufunda. Ngokuvamile, izingane ezine-PURA syndrome zingase zibe nobunzima bokuhamba, ukuxhuzula noma isifo sokuwa, kanye nezinye izinkinga zempilo.

Abacwaningi bakholelwa ukuthi lokhu kubangelwa izinguquko, noma ukuguquka kwezakhi zofuzo ezihilelekile ekuthuthukisweni kobuchopho namaseli ezinzwa (amaseli ezinzwa / ama-neurons). Izingane ezizalwa nalesi simo zingase zibe nobunzima bokudla nokuphefumula ezigabeni zokuqala. Kodwa-ke, lokhu ngezinye izikhathi kuyathuthuka ngemva kwesikhathi esithile. Kodwa-ke, izingane eziningi zingase zingakwazi ukukhuluma noma ukuhamba zodwa lapho zikhula.

Okwamanje akukho ukwelashwa kwe-PURA syndrome. Kodwa-ke, ukwelashwa okufanele kungakusiza wena nomntwana wakho ukuthi niphathe izimpawu futhi kunciphise izinkinga. Ngakho-ke , kubaluleke kakhulu ukuhlonza lesi simo kusenesikhathi .

Ubani ongaba ne-PURA syndrome?

I-PURA syndrome yisimo sokuzalwa . Lokhu kusho ukuthi lesi simo singaba khona lapho umuntu ezalwa. Sithinta isimiso sezinzwa. Ngezinye izikhathi, lesi simo singadluliselwa kusuka kubazali siye ezinganeni ngokusebenzisa izakhi zofuzo. Kodwa-ke, kubalulekile ukukhumbula ukuthi ingane ingaba ne-PURA syndrome noma ngabe akekho emndenini oke waba nalesi simo ngaphambili . Lokhu kusho ukuthi kungenzeka ukuthi kube noshintsho olusha lwezakhi zofuzo.

Yiziphi ezinye izimo ezifana nalezi?

Izimpawu ze-PURA syndrome zingafana nezinye izimo, ngakho-ke ngezinye izikhathi kungaba nzima ngodokotela ukubona ngokushesha ukuthi yi-PURA syndrome. Nazi ezinye izimo ezinezimpawu ezifanayo:

• `(I-Angelman syndrome)`
• I-Congenital central hypoventilation syndrome - Lesi futhi yisifo esingavamile sezinzwa esithinta ukuphefumula.
• I-Myotonic dystrophy - Lokhu kungokweqembu lezifo zesimiso semisipha ezibizwa ngokuthi i-muscular dystrophy.
• Izifo ezihlobene ne-neurotransmitter - isibonelo, isifo i-Alzheimer's noma isifo sikaParkinson.
• I-Pitt-Hopkins syndrome - Lesi futhi yisifo esingavamile esibangela ukubambezeleka kokukhula kanye nesifo sokuwa.
• `(Isifo sikaPrader-Willi)`
• `(Isifo sikaRett)`

Ngenxa yokuthi lezi zimpawu ziyafana , kudingeka ukuhlolwa okukhethekile ukuze kutholakale ukuxilongwa okunembile .

Ingabe akhona amanye amagama e-PURA syndrome?

Yebo, ngezinye izikhathi odokotela bangase babize lesi simo ngamanye amagama esayensi. Kuhle ukwazi okuncane ngalokho futhi, akunjalo? Isibonelo:

• `(Ukulibaziseka kokuthuthukiswa kwengqondo, i-autosomal dominant 31)`
• `(Isifo sokuthuthuka kwemizwa esihlobene ne-PURA)`
• `(I-PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome)`

Nakuba la magama engase abonakale eyinkimbinkimbi kancane, wonke abhekisela esimweni esifanayo.

Ivame kangakanani i-PURA syndrome?

I-PURA syndrome empeleni iyisifo esingavamile kakhulu . Kuze kube manje, abantu abadala nezingane abangaphezu kuka-470 babikwe ukuthi banalesi simo emhlabeni jikelele. Cabanga nje, yingakho abantu abambalwa kangaka. Umkhakha wezokwelapha waqala ukukhuluma ngalesi sifo ngo-2014. Lokho kusho ukuthi yisifo esisha kakhulu.

Buyini ubudlelwano phakathi kwe-PURA syndrome nesifo sokuwa?

Abantu abaningi abazalwa ne-PURA syndrome banengozi enkulu yokuba nesifo sokuwa . Ngezinye izikhathi lokhu kungaba uhlobo lwesifo sokuwa esingaphenduli emithini. Lokhu kusho ukuthi kunzima ukulawula ngemithi. Izinhlobo ezivame kakhulu zokuwa yizifo zokuwa noma izifo zokuwa ezijwayelekile. Lezi zimpawu zivame ukuqala ebuntwaneni noma ebuntwaneni .

Yiziphi izimbangela ze-PURA syndrome? (ngokuningiliziwe)

Njengoba sesikhulume ngakho, imbangela eyinhloko ye-PURA syndrome ukuguquka kwezakhi zofuzo ezithile emzimbeni wethu ezibizwa ngokuthi i-`(PURA gene)`. Le `(PURA)` gene idlala indima ebaluleke kakhulu ekuthuthukisweni kobuchopho okuvamile. Ngakho-ke, uma kukhona iphutha kule gene, lingathinta ukuthuthukiswa kwamangqamuzana ezinzwa `(neurons)` kanye nokwakheka kwento ebizwa ngokuthi `(myelin)`. `(Myelin)` iyinto emboza izinzwa zethu futhi isize izimpawu ukuba zihambe ngokushesha. Ngakho-ke cabanga ukuthi umsebenzi wobuchopho uthinteka kangakanani lapho le nqubo iphazamiseka.

Ziyini izimpawu ze-PURA syndrome?

Izimpawu ze-PURA syndrome zingathinta izingxenye ezahlukene zomzimba. Izingane ezizalwa nalesi simo zinokukhubazeka kokufunda okuphakathi kuya kokubi kanye nokubambezeleka kokukhula .

Izimpawu ezingabonakala ezinganeni ezisanda kuzalwa:

• Ngokuvamile kuba nobunzima bokudla noma ukuphefumula .
• Kungase kudingeke usizo lwezokwelapha (amapayipi okondla noma okuphefumulayo), kodwa izinkinga zokuphefumula zivame ukuba ngcono phakathi nonyaka.
• Ubunzima bokudla noma ukugwinya (i-dysphagia) ngezinye izikhathi bungaba obungapheli futhi buqhubeke isikhathi esingaphezu konyaka.

Izimpawu ezingabonakala ezinganeni ezindala kancane:

• Ungase ungakwazi ukuhamba kahle , futhi amakhono akho okunyakaza komzimba angase aphazamiseke.
• Ngisho noma uluqonda ulimi, ungase ungakwazi ukulukhuluma .
• Ngisho noma bekwazi ukukhuluma, bangase baxhumane ngamagama noma ngemisho emifushane kakhulu .

Abantu abaningi abane-PURA syndrome babhekana nokuquleka (isithuthwane) noma ukunyakaza kokuquleka. Lokhu kuvame ukuba:

• Kuqala ngaphambi kweminyaka emi-5. Kungase kuqale njengokushukuma kwemisipha okungahleliwe (i-myoclonus).
• Kunzima ukulawula .
• Ngezinye izikhathi kungakhula kube uhlobo olunzima noluyinkimbinkimbi lwesifo sokuwa esibizwa ngokuthi "i-Lennox-Gastaut syndrome".

Ezinye izimpawu ezivamile ezibonakala ezinganeni nakubantu abadala:

• Izinkinga zamathambo namalunga - njenge-hip dysplasia kanye ne-scoliosis.
• Izinkinga zokuphefumula - ukuminyana ngesikhathi sokulala (i-sleep apnea) noma ukuphefumula kancane, okungajulile (i-hypoventilation).
• Ubunzima bokufudumala umzimba (i-hypothermia).
• Ukukhathala ngokweqile kanye nokulala (hypersomnia).
• Izinkinga zamehlo - njenge-strabismus.
• Ukuqunjelwa njalo.
• Izinkinga zesistimu yesisu - njengokuqunjelwa.
• Ithoni yemisipha ephansi (i-hypotonia).
• Ibhalansi engazinzile noma ubunzima bokuhamba (ukuphazamiseka kokuhamba).
• Ukukhubazeka kokubona.

Izimpawu ezingavamile:

• Ukukhubazeka kwenhliziyo.
• Izinkinga zesistimu ye-endocrine - njengokuntuleka kwe-vitamin D noma ukuthomba ngaphambi kwesikhathi.
• Izinkinga zomchamo kanye nesistimu yokuzala.

I-PURA syndrome itholakala kanjani?

I-PURA syndrome ingaba nzima ukuyixilonga ngokusekelwe ekuhlolweni komzimba kuphela. Njengoba sesixoxile ngaphambili, izimpawu zingafana nezinye izimo. Ngakho-ke, odokotela kudingeka benze izivivinyo zofuzo ukuqinisekisa ukuthi yi-PURA syndrome .

Kuye ngezimpawu zengane yakho, udokotela angase enze nezinye izivivinyo. Isibonelo:

• Ukuhlolwa kwegazi.
• Ukuhlolwa kokuphefumula.
• `(EEG)` (I-Electroencephalogram) - Lokhu kuhlola umsebenzi kagesi wobuchopho.
• Ukuhlolwa kwamehlo.

Ukuze uthole okwengeziwe, udokotela wakho angase acele nokuhlolwa kwezithombe. Lokhu kufaka phakathi:

• Isikeni se-MRI (Magnetic Resonance Imaging).
• `(Ukuhlolwa kwe-Ultrasound)`.
• Ukuhlolwa kwe-`(X-ray)`.

Ingabe ikhona ikhambi le-PURA syndrome?

Lena inkinga enkulu kubantu abaningi. Uma sikhuluma iqiniso, okwamanje alikho ikhambi eliphelele le-PURA syndrome.Kodwa-ke, ukutholakala kusenesikhathi kanye nokwelashwa kunganciphisa ingozi yezinkinga ezifana ne-scoliosis. Odokotela bangancoma ukwelashwa okungakusiza wena nengane yakho ukuthi niphathe izimpawu. Ngokwelashwa okufanele, ingane yakho ingahlanganyela emisebenzini eminingi ngangokunokwenzeka futhi yenze impilo ibe lula kancane .

Obani abangafakwa eqenjini lokwelapha i-PURA syndrome yengane yakho?

Uma ingane yakho ine-PURA syndrome, ithimba lezokwelapha eliyelapha lingafaka phakathi ochwepheshe abahlukahlukene. Lokhu kusho ukuthi akukhona udokotela oyedwa kuphela, kodwa abantu abaningana abasebenza ndawonye ukuze banikeze ukwelashwa okungcono kakhulu kwengane yakho. Ithimba elinjalo lingafaka phakathi abantu abanjengalaba:

• Udokotela wamehlo.
• Isazi sezakhi zofuzo.
• Udokotela ochwepheshe ohlelweni lwezinzwa (udokotela wezinzwa).
• Uchwepheshe wezokwelapha emsebenzini - umuntu osiza ngemisebenzi yansuku zonke.
• Udokotela ohlinza amathambo.
• Udokotela wezingane.
• Umelaphi wezokwelapha umzimba ngumuntu osiza ngezinto ezifana nokuhamba nokunyakaza.
• Udokotela ochwepheshe ohlelweni lokuphefumula (i-pulmonologist).
• Isazi sezifo zolimi lokukhuluma.

Bonke laba bantu basebenzisana ukudala uhlelo lokwelashwa olufanelana kahle nesimo sengane.

Iphathwa kanjani i-PURA syndrome?

Ukwelashwa kwe-PURA syndrome kuyahlukahluka kuye ngezimpawu zengane kanye nobunzima bazo . Uma ingane esanda kuzalwa ine-PURA syndrome, izodinga ukubhekwa esibhedlela futhi inikezwe usizo ngokudla nokuphefumula.

Izingane ezindala zivame ukuphathwa kanje:

• Ukwelapha ngenkulumo nolimi - Thuthukisa amakhono okuxhumana.
• Ukwelashwa ngokomzimba - Thuthukisa ukuhamba.
• Kwezinye izimo, ukuhlinzwa kungenziwa ukuze kulungiswe izinkinga zobuso, zenhliziyo, zamathambo, noma ezinye izinkinga.

Unganika ingane yakho izinto ezifana nalezi:

• Imithi yokuvimbela ukuquleka.
• Izinsiza zokuxhumana.
• Ukusekela ukudla noma ukugwinya.
• Ukwelashwa ngokomzimba nangokomsebenzi.
• Ukwelashwa kwenkulumo nolimi.
• Amadivayisi okusiza - njengezinqola ezizivumelanisa nezimo, ama-braces, ama-orthotics, ama-walker, noma izihlalo zabakhubazekile.

Yini engingayenza ukuze nginciphise ingozi yokuba ingane yami ibe ne-PURA syndrome?

Lokhu kuyinto abazali abaningi abayicabangayo. Kodwa iqiniso liwukuthi, ayikho indlela yokuvimbela i-PURA syndrome . Futhi,Akubangelwa yinoma yini oyenzayo. Kubangelwa izinguquko zofuzo (ukuguqulwa kwezakhi zofuzo) ezenzeka ngesikhathi sokukhula kombungu. Ngakho ungazizwa unecala ngakho.

Iyini inhloso yengane ene-PURA syndrome?

I-PURA syndrome iyisimo esingelapheki impilo yonke . Izingane eziningi zingase zibe nokukhubazeka kokufunda okuphakathi kuya kokubi kanye nokubambezeleka kokukhula. Eziningi zingase zingakwazi ukukhuluma noma ukuhamba zodwa . Kodwa-ke, khumbula ukuthi ukwelashwa okuphumelelayo kunganikeza ingane yakho impilo engcono . Ngokwelashwa, nazo zingajabula futhi zithuthuke ngokugcwele.

Kufanele ngifune nini iseluleko sezokwelapha sengane yami?

Ukutholwa kusenesikhathi kwe-PURA syndrome kubalulekile ukulawula izimpawu nokunciphisa ingozi yezinkinga . Odokotela cishe bazokwenza ukuhlolwa okuvamile ukuze bahlole impilo nezimpawu zengane yakho. Udokotela wakho uzokusiza ukuthi wakhe uhlelo lokunakekelwa oluqondene nawe oluhlangabezana nezidingo nemigomo yengane yakho.

Kuvamile ukuzizwa ukhungathekile futhi ukhathazekile uma uthola ukuxilongwa okufana ne-PURA syndrome. Lesi yisifo esingavamile kakhulu sofuzo esithinta uhlelo lwezinzwa, esibangela ukukhubazeka okukhulu kokufunda, ukubambezeleka kokukhula, futhi ngokuvamile isifo sokuwa. Kodwa-ke, ngokuhlanganiswa okufanele kokwelashwa, ingane yakho ingaba nekhwalithi engcono yokuphila . Khuluma nodokotela wakho mayelana nokwelashwa okuphumelelayo okungenza umehluko njengoba ingane yakho ikhula. Awuwedwa , futhi kunodokotela, abelaphi, nabanye abaningi abangakusiza kulolu hambo.

Okokugcina, izinto ezibaluleke kakhulu okudingeka uzikhumbule (Umyalezo Wokuya Ekhaya)

Nakuba i-PURA syndrome iyisifo esingavamile esibangelwa izakhi zofuzo, kubaluleke kakhulu ukuqaphela.

• Lokhu kuthinta kakhulu isimiso sezinzwa futhi kungabangela izimo ezifana nokubambezeleka kokukhula, ukukhubazeka kokufunda, kanye nesifo sokuwa.
• Ukuxilongwa kusenesikhathi kanye nokuqala ukwelashwa okufanele kuhamba ibanga elide ekuthuthukiseni izinga lempilo yengane.
• Nakuba kungekho ikhambi eliphelele lalokhu, kunezindlela ezahlukene zokwelapha ukulawula izimpawu nokunciphisa izinkinga .
• Ithimba lodokotela abavela kochwepheshe abahlukahlukene lisebenza ndawonye ukuze linikeze ingane ukwelashwa okudingekayo.
• Ayikho indlela yokuvimbela lesi simo ukuthi singenzeki, futhi njengabazali, akudingeki nizizwe ninecala ngaso .
• Uma unenkinga mayelana nokukhula noma impilo yengane yakho, ungesabi futhi ufune iseluleko sezokwelapha ngokushesha . Yilokho okungcono kakhulu ongakwenza.

Khumbula, yonke ingane iyigugu, futhi yonke ingane ifanelwe uthando nokunakekelwa okungcono kakhulu.

'I-PURA syndrome, izifo zofuzo, isimiso sezinzwa, ukubambezeleka kokukhula, isifo sokuwa, impilo yengane, izifo ezingavamile