Siyini isifo se-Prion? Ake sithole ukuthi siyini ngempela!

Wake wezwa ngalesi 'Sifo sikaPrion'? Mhlawumbe leli gama lisha kuwe. Isizathu ukuthi leli yiqembu lezifo ezingavamile kakhulu emhlabeni. Kodwa-ke, kubaluleke kakhulu ukuqaphela lesi sifo, njengoba sithinta ngqo ubuchopho bethu futhi izimpawu ziba zimbi kakhulu ngokushesha okukhulu. Singavela kubantu kanye nasezilwaneni.

Iyini Isifo SikaPrion?

Kalula nje, izifo ze-prion ziyiqembu lezifo ezibangelwa iphrotheni evamile ebuchosheni bethu eguquka ngendlela engavamile ibe amaprotheni ayingozi abizwa ngokuthi "ama-prion." Cabanga ngeseli elihle emzimbeni wethu ngokuzumayo liphenduka iseli elibi, eliguqukile.

Uma lawa maprotheni e-prion angajwayelekile eqoqana ebuchosheni, aqala ukulimaza amangqamuzana obuchopho. Uma sikhuluma iqiniso, lesi yisifo esiwohloka ngenxa yemizwa . Ngokuhamba kwesikhathi, lo monakalo ungaholela ekuwohlokeni kancane kancane kokusebenza kobuchopho, okuholela ezimweni ezifana ne -dementia . Lokhu kusho ukuthi ulahlekelwa inkumbulo yakho, unenkinga yokucabanga, futhi awukwazi ukwenza umsebenzi wakho. Into eyingozi kakhulu ngalesi sifo ukuthi lezi zimpawu ziqala ngokuzumayo futhi ziqhubeke ngokushesha kakhulu. Lesi sifo sithinta cishe umuntu oyedwa kwabayisigidi emhlabeni jikelele. Lokhu kusho ukuthi asivamile kakhulu.

Ngeshwa izifo ze-Prion ziyizifo ezibulalayo . Lokhu kusho ukuthi uma lesi sifo sesiqalile, kunzima ukwelapha. Odokotela bazama ukulawula izimpawu nokwenza isiguli sikhululeke ngangokunokwenzeka. Basiza futhi isiguli ukuba sibhekane nomthelela wesifo empilweni yaso, emndenini waso, nakulabo abasinakekelayo.

Lezi zifo ze-prion zikhula kanjani?

Kunezindlela ezintathu eziyinhloko umuntu angahlakulela ngazo isifo se-prion.

1. Ngokuthola ifa lokuguquka kwezakhi zofuzo (lokhu kubizwa ngokuthi isifo se-prion somndeni).

2. Ngokutheleleka (lokhu kubizwa ngokuthi isifo se-prion esitholwe).

3. Kodwa-ke, isikhathi esiningi, lesi sifo senzeka ngaphandle kwembangela yofuzo noma ukutheleleka kwangaphandle . Abacwaningi nodokotela babiza lesi sifo ngokuthi 'isifo se-prion esingavamile'.

Manje ake sibheke ngayinye yalezi zindlela ngemininingwane ethe xaxa.

Izifo ze-Prion Ezingavamile

Lolu uhlobo oluvame kakhulu lwesifo se-prion. Okwenzekayo lapha ukuthi, ngaphandle kwesizathu esibonakalayo, amaprotheni avamile ebuchosheni aphenduka ngokuzumayo abe 'ama-prion' amabi okukhulunywe ngawo ngenhla. Isizathu esiqondile sokuthi kungani lokhu kwenzeka asikaziwa.

Izifo eziyinhloko ezikulesi sigaba yilezi:

• Isifo i-Creutzfeldt-Jakob (CJD) : Lokhu kubanga u-85% wezifo ze-prion ezingavamile. Lolu uhlobo oluvame kakhulu.
• Ukungalali okubulalayo ngezikhathi ezithile: Lokhu akuvamile kakhulu. Kuyivelakancane kakhulu kunokungalali okubulalayo okuzuzwe njengefa.
• I-variable protease-sensitive prionopathy : Lesi futhi yisifo se-prion esingavamile kakhulu esingavamile.

Izifo zePrion zomndeni

Lolu hlobo lwesifo se-prion lubangelwa ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-`PRNP` ezizakhi zofuzo zethu. Lesi sifo singavela kungakhathaliseki ukuthi ukuguquka kwezakhi zofuzo kuzuzwe kumama noma kubaba (lokhu kubizwa ngokuthi i-`autosomal dominant inheritance`). Kuye kwatholakala ukuguquka okungaphezu kuka-50 okuhlukene ku-`PRNP` gene, futhi ukuguquka ngakunye kungabangela izinhlobo ezahlukene zesifo se-prion esizuzwe njengefa.

Ezinye izifo ezikulesi sigaba:

• Isifo se-Creutzfeldt-Jakob somndeni (CJD)
• I-Gerstmann-Sträussler-Scheinker (GSS) syndrome : Lokhu kuyinto engavamile kakhulu. Kwenzeka kubantu oyedwa kuya kwabayishumi kubantu abayizigidi eziyi-100 emhlabeni jikelele.
• Ukungalali kahle komndeni okubulalayo : Lokhu kuyinto engavamile kakhulu kune-GSS syndrome. Imindeni engu-50 kuya kwengu-70 kuphela emhlabeni wonke ephethe ukuguquka kwezakhi zofuzo okubangela lesi sifo.
• Ezinye izifo ze-prion ezibangelwa ukuguquka kwezakhi zofuzo ze-PRNP nazo ziye zabikwa. Isibonelo, amalungu ayi-11 omndeni waseBrithani athole izimpawu ezifana nesifo sohudo, i-sensory autonomic neuropathy, ukuxhuzula, kanye ne-dementia. Lesi simo, esibizwa ngokuthi i-autonomic neuropathy, sithinta izinto ezifana nomfutho wegazi lakho, ukushaya kwenhliziyo, kanye nokungakwazi ukuzibamba kwamathumbu nomchamo.

Isifo se-Prion Esitholiwe

Lena yindlela engavamile kakhulu yokuthola izifo ze-prion. Lapha, umuntu angasithola lesi sifo ngokudla ukudla okungcoliswe ama-prion (isibonelo, inyama yenkomo enesifo 'se-mad cow') noma ngokusebenzisa imishini yezokwelapha engcolisiwe (isibonelo, ngesikhathi sokuhlinzwa).

• I-Kuru iyicala lokuqala lalolu hlobo lwesifo esithathelwanayo esiwohlokayo sezinzwa ukutholakala nokufundwa. Sitholakale kubantu basePapua New Guinea. Kukholakala ukuthi sisakazwe ngeminye yemikhuba yabo (njengokudla inyama yomuntu).

Ngenhlanhla, izindlela zokuhlanza eziqinile zanamuhla zemishini yezokwelapha kanye nokunaka ukuphepha kokudla kuye kunciphisa kakhulu ukusabalala kwezifo ze-prion ngale ndlela.

Yisiphi isifo esiyingozi kakhulu se-prion?

Eqinisweni, zonke izifo ze-prion ziyabulala . Okusho ukuthi, uma uthola lesi sifo, uzokufa nakanjani. Ngokuvamile, isiguli siyafa zingakapheli izinyanga ezimbalwa kuya eminyakeni emithathu ngemva kokuqala kwezimpawu zesifo se-prion.

Ziyini izimpawu zezifo ze-prion?

Izimpawu zesifo se-prion zingahluka, kuye ngohlobo lwesifo se-prion kanye nengxenye yobuchopho ethintekile. Kodwa ngokuvamile, abantu abanezifo ze-prion baba nezinkinga ohlelweni lwabo lwezinzwa eziba zimbi kancane kancane.

Lezi ezinye zezimpawu ezivame kakhulu:

• Ubunzima bokuhamba, ukuzulazula (`Ataxia`)
• Ubunzima bokukhuluma, ukuqunjelwa kwamagama (`Aphasia`)
• Ukudideka, ukudideka
• Ukungalali
• Ukulahlekelwa yinkumbulo, ubunzima bokucabanga nokwenza izinqumo
• Ukunyakaza okuhamba kancane noma ukuqina kwemisipha (`Izinkinga zokunyakaza kwe-Hypokinetic`)
• Ukudlikiza okungazelelwe, ukuthuthumela (`Myoclonus`)
• Izinguquko zobuntu (isib., ukucasuka, ukucasuka)
• Izinkinga zengqondo (isib. ukukhathazeka, ukucindezeleka, futhi ngezinye izikhathi ngisho nokubona izinto ezingekho)

Cabanga nje, umuntu oseduze kakhulu nawe uqala ukushintsha ngokuzumayo. Ukhohlwa izinto, akakwazi ukukhuluma ngendlela ayekhuluma ngayo, unenkinga yokuhamba. Kubuhlungu kangakanani ukubona lezi zimpawu?

Yiziphi izinkinga zezifo ze-prion?

Izinkinga zezifo ze-prion zingaxhunyaniswa, okudala uhlu lwezinkinga ezingaba nomthelela omkhulu hhayi kuphela esigulini, kodwa nasemndenini nakubangane ababanakekelayo.

Lezi zinkinga zingavela zingakapheli izinyanga ezimbalwa noma unyaka ngemuva kokuqala kwezimpawu:

• Ukungakwazi ukwenza umsebenzi wakho
• I-Dementia ( ukulahlekelwa cishe ngokuphelele kwenkumbulo)
• Ukungakwazi ukukhuluma (`Mutism`)
• I-Coma (lesi yisigaba sokugcina)

Uma umuntu enesifo se-prion, usheshe athembele kwabanye. Umndeni nabanye bakhona ukuze bamnakekele futhi bamsize. Okwamanje, ukubona othandekayo wakhe elahlekelwa yinkumbulo yakhe, engakwazi ukukhuluma, kanye nokushintsha kobuntu bakhe kuyimbangela enkulu yokucindezeleka kwabanakekeli.

Kungani lezi zifo ze-prion zenzeka?

Lokhu kuyindaba yesayensi kancane, kodwa ngizokubeka kalula. Izifo ze-Prion ziqala lapho iphrotheni evamile ye-prion ebuchosheni bethu (ebizwa ngokuthi 'i-PrPc') iphenduka iphrotheni engavamile, egoqwe kabi (ebizwa ngokuthi 'i-PrPSc' - leyo yi-prion).

Lawa ma-prion angajwayelekile (`PrPSc`) aqala ukuhlangana, noma ukubopha, amaprotheni ajwayelekile e-prion (`PrPc`), ewaguqula abe ama-prion angajwayelekile. Kufana nokuphonsa i-apula elibi enqwabeni yama-apula amahle, kanti amanye azokonakala nawo. Ngokuhamba kwesikhathi, lawa ma-prion angavamile alimaza noma abhubhise amangqamuzana ezinzwa ebuchosheni. Yilapho-ke ungakwazi ukuhamba, ukucabanga, noma ukukhuluma kahle.

Isifo se-prion sitholakala kanjani?

Odokotela bangasebenzisa izivivinyo ezilandelayo ukuthola isifo se-prion:

• Ukuhlolwa kwegazi kanye nokubhobozwa kwe-lumbar : Abantu abanokuguqulwa kwezakhi zofuzo okubangela izifo ze-prion ezizuzwe njengefa bahlolwa ama-biomarker esifo noma umonakalo egazini labo noma oketshezini lwe-cerebrospinal (uketshezi oluzungeze ubuchopho nomgogodla).
• Ukuskena kwe-Brain MRI : Lokhu kungathatha izithombe ezicacile zobuchopho, ukuze odokotela babheke izimpawu zesifo se-prion.
• I-Electroencephalogram (EEG) : Lokhu kulinganisa umsebenzi kagesi wobuchopho.
• Ukuhlolwa kokuguqulwa okubangelwa ukuzamazama kwesikhathi sangempela (RT-QuiC) : Kulolu vivinyo, odokotela bezifo bafuna ama-prion oketshezini lomgogodla. Lolu luhlolo olusha nolunembile.

Ingabe ikhona ikhambi lezifo ze-prion?

Ngeshwa, odokotela abakayitholi ikhambi lezifo ze-prion noma ukwelashwa okungalawula ukuqhubeka kwalesi sifo. Izifo ze-Prion ziyizifo ezisongela ukuphila . Iningi labantu liyafa zingakapheli izinyanga kuya eminyakeni ngemva kokutholakala benesifo se-prion.

Ukwelashwa kugxile ekunakekelweni kokunciphisa ubuhlungu . Lokhu kusho ukulawula izimpawu nokwenza isiguli sikhululeke futhi singabi nobuhlungu ngangokunokwenzeka. Isibonelo, odokotela bangase banikeze imithi yezinto ezifana nalezi:

• Imithi yokuvimbela ukuquleka noma imithi yokuphumula imisipha ye-myoclonus.
• Ama-opioid okwelapha ubuhlungu.

Luhlobo luni lwekusasa umuntu onesifo se-prion analo?

Okwamanje, akukho ukwelashwa noma ukwelashwa kwezifo ze-prion. Kodwa-ke, abacwaningi baphenya lokhu ngezindlela ezimbili, okungaholela ekutholakaleni kwalesi sifo kusenesikhathi kanye nokwelashwa kwesikhathi esizayo.

Ukuhlolwa kwe-'RT-QuiC' okukhulunywe ngakho ngenhla kusize ekutholeni isifo se-prion ngaphambi kokuba kwenzeke umonakalo ongenakulungiseka ebuchosheni. Abacwaningi bafunda nama-prion ukuthola izindlela zokuvimba ukwakheka kwalawa maprotheni angajwayelekile nokuvimbela amaprotheni ajwayelekile ukuba angajwayelekile.

Yini okufanele ngiyenze uma nginesifo se-prion?

Ngenxa yokuthi isifo se-prion siqhubeka ngokushesha, kungaba nzima ngawe ukwenza umsebenzi wakho. Uma unalesi sifo, kuwumqondo omuhle ukuthi ugcwalise "isiqondiso kusengaphambili" .

Iziqondiso ezithuthukisiwe ziyimibhalo yezomthetho. Izibonelo:

• Izincwadi zefa zokuphila : Uma unesifo esibulalayo njengesifo se-prion, lo mbhalo ungacacisa ukuthi ufuna kwenzekeni kuwe (isib. ukuthi ufuna ukwelashwa okuthile noma cha).
• Amandla Ommeli Ahlala Njalo Ezempilo (i-DPA): Lo mbhalo ungasho ukuthi ubani ozothatha izinqumo zakho zezempilo uma ungasakwazi ukuzikhulumela.

Ngokuhlela izinto ezinjengalezi kusenesikhathi, unganciphisa ukucindezeleka wena nomndeni wakho enizobhekana nakho kamuva.

Kuthiwani uma othile emndenini enesifo se-prion esizuzwe njengefa?

Ngezinye izikhathi, abantu bathola ukuguquka kwezakhi zofuzo okwandisa ingozi yabo yokuthola isifo se-prion. Ukuhlolwa kwezakhi zofuzo kunganquma ukuthi unesinye noma ngaphezulu kwezinguquko zezakhi zofuzo ezibangela isifo se-prion. Lokhu kuhlolwa kungabonisa nengozi yakho ethile.

Ukuthola ukuhlolwa kofuzo kwesifo esibulalayo kuyisinqumo somuntu siqu. Abanye abantu abafuni ukwazi ukuthi basengozini yini. Uma ufuna ukuhlolwa kofuzo, cela udokotela ukuthi akuthumelele i-referral. Isibonelo, e-United States, kunezikhungo ezifana ne-"National Prion Disease Pathology Surveillance Center" ngalokhu. Kukhona nodokotela abangochwepheshe eSri Lanka abangakweluleka ngale ndaba.

Unakekela kanjani ilungu lomndeni elinesifo se-prion?

Isifo esinjengalesi singaguqula impilo yakho yansuku zonke ibe yimbi. Ngesikhathi ubhekene nokushaqeka nokudabuka kokuzwa ukuthi othandekayo wakho unesifo esibulalayo, udinga futhi ukuhlela ukuthi uzonakekela kanjani ilungu lomndeni wakho. Nazi ezinye iziphakamiso:

• Dala uhlelo lokunakekelwa : Kuye ngesimo sakho, ilungu lomndeni wakho lingadinga ukunakekelwa endaweni yokuhlala, noma lingadinga ukunakekelwa ekhaya, lithembele emndenini, kubangani, kanye nakwabasizi bezempilo yomuntu siqu. Othandekayo wakho angadinga usizo ngemisebenzi yansuku zonke, njengokuya endlini yangasese nokudla.
• Hlela ukunakekelwa kwe-hospice : Isifo se-Prion yisifo esibulalayo esingakhula ngokuzumayo futhi sibe sibi kakhulu ngokushesha okukhulu. Uma uhlela ukunakekelwa kwe-hospice kusenesikhathi, othandekayo wakho angakuthola lapho ekudinga.
• Dala indawo ezolile : Abantu abanezifo ze-prion bavame ukuzwela kakhulu ezenzakalweni ezizumayo (isib. ukuthinta othile, ukuzwa umsindo omkhulu, ukuba sezindaweni ezinabantu abaningi). Bangase bathukuthele noma bathukuthele. Ukuphatha indawo yabo kungabasiza bahlale bezolile futhi bekhululekile.

Ngesikhathi esinjengalesi, kubalulekile ukuthi umnakekeli azicabangele yena ngokwakhe. Udinga ukuphumula nokusekelwa futhi. Ungazami ukuthwala lo mthwalo wedwa.

Kufanele ngimbone nini udokotela?

Izimpawu zezifo ze-prion zivame ukuba zimbi kakhulu ngokushesha okukhulu. Uma wena noma othile emndenini wakho enesifo se-prion, kufanele usebenzisane nodokotela bakho ukuze uphathe imiphumela yalesi sifo.

Ikakhulukazi, uma izimpawu ezishiwo ngaphambilini (njengokulahlekelwa yinkumbulo, ubunzima bokuhamba, ubunzima bokukhuluma, izinguquko zobuntu) ziqala ngokuzumayo futhi ziba zimbi ngokushesha, funa iseluleko sezokwelapha ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ukuthola ukuthi wena noma othile emndenini wakho unesifo se-prion kungaba yinto eshaqisayo kakhulu. Wena nomndeni wakho ninezinselele eziningi manje, futhi kuzovela ezinye njengoba lesi sifo siqhubeka. Nansi eminye imibuzo ezokusiza uqonde ukuthi yini ongayilindela:

• Wazi kanjani ukuthi nginesifo se-prion?
• Ngisiphi isifo se-prion enginaso?
• Lokho kungithinta kanjani?
• Yini okufanele ngiyenze ngokulandelayo?
• Yini engingayenza ukuze nginakekele ilungu lomndeni wami?
• Ingabe umndeni wami kufanele welulekwe futhi uhlolwe izakhi zofuzo?

Okokugcina, izinto okufanele uzikhumbule

Izifo ze-Prion ziyiqembu lezifo ezingavamile nezibulalayo ezithinta ubuchopho bakho. Izimpawu ze-Prion zingavela ngokuzumayo futhi zibe zimbi ngokushesha. Kungaba buhlungu ukuzwa ukuthi wena noma umuntu omthandayo unesifo esingenalo ikhambi noma ukwelashwa kokusilawula.

Kodwa-ke, kunezindlela zokwelapha ezingasiza ekulawuleni izimpawu . Futhi kunezinhlelo nezinsizakalo zokusiza labo abathintekile yizifo ze-prion kanye nabanakekeli babo. Uma wena noma othile omthandayo enesifo se-prion, ungesabi ukubuza imibuzo nokufuna usizo. Awuwedwa.

Isifo sikaPrion , Isifo Sobuchopho, Isifo Sezinzwa, Isifo Sokuwohloka Komqondo, Isifo Sofuzo