Yintoni iPrion Disease? Masifumanise ukuba yintoni kanye kanye!

Ngaba wakha weva ngesi 'Sifo sikaPrion'? Mhlawumbi eli gama litsha kuwe. Isizathu kukuba eli liqela lezifo ezingaqhelekanga kakhulu emhlabeni. Nangona kunjalo, kubaluleke kakhulu ukuqaphela esi sifo, njengoko sichaphazela ngqo ingqondo yethu kwaye iimpawu ziba nzima ngokukhawuleza. Sinokwenzeka ebantwini nakwizilwanyana.

Yintoni iPrion Disease?

Ngamafutshane, izifo ze-prion liqela lezifo ezibangelwa yiproteni eqhelekileyo engqondweni yethu eguquka ngendlela engaqhelekanga ibe ziiproteni eziyingozi ezibizwa ngokuba yi-"prions." Khawuthelekelele iseli elungileyo emzimbeni wethu ijika ngequbuliso ibe yiseli embi, eguqukileyo.

Xa ezi protein ze-prion ezingaqhelekanga ziqokelelana engqondweni, ziqala ukonakalisa iiseli zengqondo. Ngokuchanekileyo, esi sisifo esibangela ukuwohloka kwemithambo-luvo . Ekuhambeni kwexesha, lo monakalo unokukhokelela ekuwohlokeni kancinci komsebenzi wengqondo, okukhokelela kwiimeko ezifana ne-dementia . Oku kuthetha ukuba ulahlekelwa yinkumbulo yakho, unobunzima bokucinga, kwaye awukwazi ukwenza umsebenzi wakho. Eyona nto iyingozi ngesi sifo kukuba ezi mpawu ziqala ngequbuliso kwaye ziqhubeke ngokukhawuleza. Esi sifo sichaphazela malunga nomntu omnye kwisigidi kwihlabathi liphela. Oku kuthetha ukuba asiqhelekanga kakhulu.

Ngelishwa izifo zePrion zizifo ezibulalayo . Oku kuthetha ukuba xa isifo siphuhlile, kunzima ukunyanga. Oogqirha bazama ukulawula iimpawu nokwenza isigulana sikhululeke kangangoko kunokwenzeka. Bakwanceda isigulana ukuba sijongane nempembelelo yesifo kubomi baso, kusapho lwaso, nakwabo basinyamekelayo.

Ziphuhla njani ezi zifo ze-prion?

Kukho iindlela ezintathu eziphambili umntu anokuthi abe nesifo se-prion.

1. Ngokufumana inguqu yemfuza (oku kubizwa ngokuba sisifo se-prion sentsapho).

2. Ngosulelo (oku kubizwa ngokuba sisifo se-prion esifunyenweyo).

3. Nangona kunjalo, uninzi lwexesha, esi sifo senzeka ngaphandle kwesizathu semfuza okanye usulelo lwangaphandle . Abaphandi kunye noogqirha basibiza esi 'sisifo se-prion esingaqhelekanga'.

Ngoku makhe sijonge nganye kwezi ndlela ngokweenkcukacha ezithe vetshe.

Izifo zePrion ezingaqhelekanga

Olu lolona hlobo luqhelekileyo lwesifo se-prion. Okwenzekayo apha kukuba, ngaphandle kwesizathu esicacileyo, iiproteni eziqhelekileyo engqondweni zijika ngequbuliso zibe 'zii-prion' ezimbi ezikhankanyiweyo. Isizathu esichanekileyo sokuba oku kwenzeke asikaziwa.

Izifo eziphambili ezikweli candelo zezi:

• Isifo seCreutzfeldt-Jakob (CJD) : Esi sisifo esibangela i-85% yezifo ze-prion ezingaqhelekanga. Lolona hlobo luxhaphakileyo.
• Ukungalali kakuhle okubulalayo ngamaxesha athile: Oku kunqabile kakhulu. Kunqabile kakhulu kunokungalali kakuhle okubangelwa yimfuza.
• I-variable protease-sensitive prionopathy : Esi sisifo se-prion esingaqhelekanga kakhulu.

Izifo zePrion zosapho

Olu hlobo lwesifo se-prion lubangelwa kukuguquka kwejini ekuthiwa yi-'PRNP' kwiijini zethu. Esi sifo singenzeka nokuba ukuguqulwa kwejini kufunyenwe kumama okanye kutata (oku kubizwa ngokuba yi-'autosomal dominant inheritance'). Kuye kwachongwa iinguqu ezingaphezu kwama-50 ezahlukeneyo kwijini ye-'PRNP', kwaye utshintsho ngalunye lunokubangela iintlobo ezahlukeneyo zesifo se-prion esizuzwe njengelifa.

Ezinye zezifo ezikweli candelo:

• Isifo seCreutzfeldt-Jakob seFamilial (CJD)
• Isifo sikaGerstmann-Sträussler-Scheinker (GSS) : Esi sisifo esingaqhelekanga kakhulu. Siyenzeka kumntu omnye ukuya kwabalishumi kubantu abayi-100 yezigidi kwihlabathi liphela.
• Ukungalali kakuhle kweentsapho : Oku kunqabile kakhulu kune-GSS syndrome. Ziintsapho ezingama-50 ukuya kwezingama-70 kuphela kwihlabathi liphela ezithwele utshintsho lwemfuza olubangela esi sifo.
• Ezinye izifo ze-prion ezibangelwa kukuguquka kwezakhi zofuzo kwi-PRNP nazo ziye zaxelwa. Umzekelo, amalungu ali-11 osapho lwaseBritane abonakalise iimpawu ezifana norhudo, i-sensory autonomic neuropathy, ukuxhuzula, kunye ne-dementia. Le meko, ebizwa ngokuba yi-autonomic neuropathy, ichaphazela izinto ezifana noxinzelelo lwegazi, isantya sentliziyo, kunye nokungakwazi ukuzibamba kwamathumbu kunye nomchamo.

Isifo sePrion esifunyenweyo

Le yeyona ndlela ingaqhelekanga yokufumana izifo ze-prion. Apha, umntu angasifumana esi sifo ngokutya ukutya okungcoliswe zii-prion (umzekelo, inyama yenkomo enesifo 'seenkomo eziphambeneyo') okanye ngokusebenzisa izixhobo zonyango ezingcoliswe ziintsholongwane (umzekelo, ngexesha lotyando).

• IKuru ngowokuqala ukuba neli gciwane elinesifo esosulelayo esibangela ukuba lifunyanwe kwaye lifundwe. Lifunyenwe kubantu basePapua New Guinea. Kukholeleka ukuba lisasazeke ngezinye zezithethe zabo (ezifana nokutya inyama yomntu).

Ngethamsanqa, iindlela zanamhlanje zokucoca izixhobo zonyango ngokungqongqo kunye nokuqwalaselwa kokhuseleko lokutya ziye zanciphisa kakhulu ukusasazeka kwezifo ze-prion ngale ndlela.

Yintoni eyona iyingozi kakhulu kwizifo ze-prion?

Enyanisweni, zonke izifo ze-prion ziyabulala . Oko kukuthi, ukuba unesifo, ngokuqinisekileyo uza kufa. Ngokwesiqhelo, isigulana siyafa kwiinyanga ezimbalwa ukuya kwiminyaka emithathu emva kokuqala kweempawu zesifo se-prion.

Zithini iimpawu zezifo ze-prion?

Iimpawu zesifo se-prion zingahluka, kuxhomekeke kuhlobo lwesifo se-prion kunye nenxalenye yengqondo echaphazelekileyo. Kodwa ngokubanzi, abantu abanezifo ze-prion baba neengxaki kwinkqubo yabo yemithambo-luvo eziya ziba mandundu kancinci kancinci.

Nazi ezinye zezona mpawu zixhaphakileyo:

• Ubunzima bokuhamba, ukugxadazela (`Ataxia`)
• Ubunzima bokuthetha, ukungakwazi ukuthetha kakuhle (`Aphasia`)
• Ukudideka, ukudideka
• Ukungalali
• Ukulahlekelwa yinkumbulo, ubunzima bokucinga nokwenza izigqibo
• Iintshukumo ezicothayo okanye ukuqina kwemisipha (`Iingxaki zokunyakaza ezibangelwa yi-Hypokinetic`)
• Ukungcangcazela ngequbuliso, ukungcangcazela (`Myoclonus`)
• Utshintsho kubuntu (umz., ukucaphuka, ukucaphuka)
• Iingxaki zengqondo (umz. ixhala, ukudakumba, kwaye ngamanye amaxesha kwanemibono engabonakaliyo)

Khawucinge nje, umntu osondeleyo kuwe ngequbuliso uqala ukutshintsha. Uyalibala izinto, akakwazi ukuthetha ngendlela awayesenza ngayo ngaphambili, unengxaki yokuhamba. Kubuhlungu kangakanani ukubona ezi mpawu?

Zithini iingxaki zezifo ze-prion?

Iingxaki zezifo ze-prion zinokudityaniswa, nto leyo edala uthotho lweengxaki ezinokuba nefuthe elikhulu kungekuphela nje kwisigulana, kodwa nakusapho nakubahlobo ababakhathalelayo.

Ezi ngxaki zinokwenzeka kwiinyanga ezimbalwa okanye kunyaka emva kokuba iimpawu ziqalile:

• Ukungakwazi ukwenza umsebenzi wakho
• I-Dementia ( ukulahlekelwa phantse ngokupheleleyo yinkumbulo)
• Ukungakwazi ukuthetha (`Mutism`)
• I-Coma (eli linqanaba lokugqibela)

Xa umntu enesifo se-prion, ukhawuleza axhomekeke kwabanye. Usapho kunye nabanye bakhona ukuze bamkhathalele baze bamncede. Okwangoku, ukubukela umntu abamthandayo elahlekelwa yinkumbulo yakhe, engakwazi ukuthetha, kwaye notshintsho lobuntu bakhe lubangela uxinzelelo olukhulu kubanakekeli.

Kutheni ezi zifo ze-prion zenzeka?

Le yingxaki yesayensi kancinci, kodwa ndiza kuyibeka ngokulula. Izifo zePrion ziqala xa iproteni eqhelekileyo ye-prion engqondweni yethu (ebizwa ngokuba yi-'PrPc`) ijika ibe yiproteni engaqhelekanga, egobileyo (ebizwa ngokuba yi-'PrPSc` - yi-prion leyo).

Ezi prion ezingaqhelekanga (`PrPSc`) ziqala ukuhlangana, okanye ukunamathela kwiiproteni zeprion eziqhelekileyo (`PrPc`), zizenze zibe ziiprion ezingaqhelekanga. Kufana nokuphosa iapile elibi kwinqwaba yeeapile ezilungileyo, kwaye ezinye ziya kuba zimbi. Ekuhambeni kwexesha, ezi proteni zeprion ezingaqhelekanga zonakalisa okanye zitshabalalise iiseli zemithambo-luvo ebuchotsheni. Kulapho ke ungakwazi ukuhamba, ukucinga, okanye ukuthetha kakuhle.

Isifo se-prion sichongwa njani?

Oogqirha banokusebenzisa ezi mvavanyo zilandelayo ukufumanisa isifo se-prion:

• Uvavanyo lwegazi kunye nokubhobozwa kwe-lumbar : Abantu abanotshintsho lwemfuza olubangela izifo ze-prion ezizuzwe njengelifa bahlolwa ii-biomarkers zesifo okanye umonakalo egazini labo okanye kulwelo lwe-cerebrospinal (ulwelo olujikeleze ingqondo kunye nomqolo).
• I-Brain MRI scan : Oku kungathatha imifanekiso ecacileyo yobuchopho, ukuze oogqirha bajonge iimpawu zesifo se-prion.
• I-Electroencephalogram (EEG) : Le ilinganisa umsebenzi wombane wengqondo.
• Uvavanyo lokuguqulwa kwe-quaking-induced conversion assay (RT-QuiC) lwexesha langempela : Kolu vavanyo, iingcali zezifo zikhangela ii-prions kulwelo lomqolo. Olu luvavanyo olutsha noluchanekileyo.

Ngaba ikho indlela yokunyanga izifo ze-prion?

Ngelishwa, oogqirha abakafumani unyango lwezifo ze-prion okanye unyango olunokulawula ukuqhubela phambili kwesi sifo. Izifo ze-Prion zizifo ezisongela ubomi . Uninzi lwabantu luyafa kwiinyanga ukuya kwiminyaka emva kokuba befunyaniswe benesifo se-prion.

Unyango lugxile ekunyamekeleni ukudambisa iintlungu . Oku kuthetha ukulawula iimpawu nokwenza isigulana sikhululeke kwaye singabi nantlungu kangangoko kunokwenzeka. Umzekelo, oogqirha banokunika amayeza ezinto ezifana nezi:

• Amayeza okuthintela ukuxhuzula okanye iziphumzi zemisipha ze-myoclonus.
• Ii-opioids zokunceda intlungu.

Luhlobo luni lwekamva umntu onesifo se-prion analo?

Okwangoku, akukho nyango okanye unyango lwezifo ze-prion. Nangona kunjalo, abaphandi baphanda oku ngeendlela ezimbini, ezinokukhokelela ekufumanekeni kwesi sifo kwangethuba kunye nonyango lwexesha elizayo.

Uvavanyo olukhankanyiweyo lwe-'RT-QuiC' luncede ekufumaneni isifo se-prion ngaphambi kokuba kwenzeke umonakalo ongenakulungiseka engqondweni. Abaphandi bakwafunda ngee-prion ukuze bafumane iindlela zokuthintela ukwakheka kwezi proteni ezingaqhelekanga kunye nokuthintela iiproteni eziqhelekileyo ekubeni zingaqhelekanga.

Ndingenza ntoni ukuba ndinesifo se-prion?

Ngenxa yokuba isifo se-prion siqhubeka ngokukhawuleza, kunokuba nzima kuwe ukwenza umsebenzi wakho. Ukuba unesi sifo, licebo elihle ukuba ugcwalise "imiyalelo kwangaphambili" .

Imiyalelo engaphambili ngamaxwebhu asemthethweni. Imizekelo:

• Imimiselo yokuphila : Ukuba unesifo esingapheliyo esifana nesifo se-prion, olu xwebhu lunokuchaza into ofuna yenzeke kuwe (umz. ukuba ufuna unyango oluthile okanye awufuni).
• Igunya elihlala ixesha elide lommeli wezempilo (i-DPA): Olu xwebhu lunokuchaza ukuba ngubani oza kwenza izigqibo zakho zezempilo ukuba awusakwazi ukuthetha wedwa.

Ngokucwangcisa izinto ezinje kwangaphambili, unganciphisa uxinezeleko oluza kuhlangabezana nawe nosapho lwakho kamva.

Kuthekani ukuba kukho umntu entsatsheni onesifo se-prion esizuzwe njengelifa?

Ngamanye amaxesha, abantu bazuza njengelifa utshintsho lwezakhi zofuzo oluyandisa umngcipheko wokuba nesifo se-prion. Uvavanyo lwezakhi zofuzo lunokumisela ukuba ngaba unesinye okanye ngaphezulu kwezakhi zofuzo ezibangela isifo se-prion. Olu vavanyo lunokubonisa nomngcipheko wakho othile.

Ukufumana uvavanyo lwemfuza lwesifo esibulalayo sisigqibo somntu ngamnye. Abanye abantu abafuni ukwazi ukuba basemngciphekweni na. Ukuba ufuna uvavanyo lwemfuza, cela ugqirha ukuba akuthumelele ingcebiso. Umzekelo, eMelika, kukho amaziko afana ne-"National Prion Disease Pathology Surveillance Center" ngale nto. Kukwakho noogqirha abaziingcali eSri Lanka abanokunika iingcebiso ngale nto.

Unyamekela njani ilungu losapho elinesifo se-prion?

Isifo esifana nesi singaguqula ubomi bakho bemihla ngemihla bube nzima. Ngelixa ujongene nomothuko nosizi lokuva ukuba umntu omthandayo unesifo esinganyangekiyo, kufuneka ucwangcise indlela oza kunyamekela ngayo ilungu losapho lwakho. Nazi ezinye iingcebiso:

• Yenza isicwangciso sokhathalelo : Ngokuxhomekeke kwimeko yakho, ilungu losapho lwakho linokufuna unyango kwindawo yokuhlala, okanye linokufuna unyango ekhaya, lixhomekeke kusapho, kubahlobo, kunye nabancedisi bezempilo. Umntu omthandayo unokufuna uncedo ngemisebenzi yemihla ngemihla, njengokuya kwigumbi lokuhlambela nokutya.
• Lungiselela ukhathalelo lwe-hospice : Isifo se-Prion sisifo esibulalayo esinokuvela ngequbuliso size siqhubeke ngokukhawuleza. Ukuba ulungiselela ukhathalelo lwe-hospice kwangethuba, umntu omthandayo unokulufumana xa elufuna.
• Yenza indawo ezolileyo : Abantu abanezifo ze-prion badla ngokuba novelwano olungaqhelekanga kwiziganeko ezingalindelekanga (umz., ukuchukumisa umntu, ukuva ingxolo enkulu, ukuba kwiindawo ezixineneyo). Basenokucaphuka okanye babe nomsindo. Ukulawula indawo abakuyo kunokubanceda bahlale bezolile kwaye bekhululekile.

Ngexesha elinje, kubalulekile ukuba umnakekeli azicingele naye. Nawe udinga ukuphumla kunye nenkxaso. Musa ukuzama ukuthwala lo mthwalo wedwa.

Ndifanele ndimbone nini ugqirha?

Iimpawu zezifo ze-prion zihlala zisiba mandundu ngokukhawuleza. Ukuba wena okanye umntu kusapho lwakho unesifo se-prion, kufuneka usebenzisane noogqirha bakho ukulawula iziphumo zesifo.

Ngokukodwa, ukuba iimpawu ezikhankanyiweyo ngaphambili (ezifana nokulahlekelwa yinkumbulo, ubunzima bokuhamba, ubunzima bokuthetha, utshintsho lobuntu) ziqala ngequbuliso kwaye zisiba mandundu ngokukhawuleza, funa ingcebiso kagqirha ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ukufumanisa ukuba wena okanye umntu kusapho lwakho unesifo se-prion kunokuba yinto eyoyikisayo. Wena nosapho lwakho ninemingeni emininzi ngoku, kwaye kuza kuvela eminye njengoko isifo siqhubeka. Nazi ezinye zemibuzo ezinokukunceda uqonde into omawuyilindele:

• Uyazi njani ukuba ndinesifo se-prion?
• Sisiphi isifo se-prion endinaso?
• Oko kundichaphazela njani?
• Ndingenza ntoni emva koko?
• Ndingenza ntoni ukuze ndinyamekele ilungu losapho lwam?
• Ngaba usapho lwam lufanele luye kululekwa kwaye luvavanywe ngemfuza?

Okokugqibela, izinto ekufuneka uzikhumbule

Izifo zePrion liqela lezifo ezingaqhelekanga nezibulalayo ezichaphazela ingqondo yakho. Iimpawu zePrion zinokuvela ngequbuliso zize zibe mandundu ngokukhawuleza. Kunokuba buhlungu kakhulu ukwazi ukuba wena okanye umntu omthandayo unesifo esingenanyango okanye unyango lokusilawula.

Nangona kunjalo, kukho unyango olunceda ukulawula iimpawu . Kwaye kukho iinkqubo kunye neenkonzo zokunceda abo bachaphazeleka zizifo ze-prion kunye nabanakekeli babo. Ukuba wena okanye umntu omthandayo unesifo se-prion, ungoyiki ukubuza imibuzo kunye nokufuna uncedo. Awuwedwa.

Isifo sikaPrion , Isifo sobuchopho, Isifo se-Neurological, i-Dementia, i-CJD, Isifo se-Genetic