Ngaba ukulala liphupha nje? Masithethe nge-Fatal Family Insomnia (FFI).

Kuqhelekile ukuba singalali ebusuku ngamanye amaxesha. Mhlawumbi kwenzeka emva kosuku olunzima okanye xa sinengxaki ethile engqondweni yethu. Kodwa, ungacinga ngesifo esibulalayo esingenakukwenza ulale kakuhle, kwaye eso sisifo esizuzwa njengelifa? Kunzima kakhulu ukusicinga, akunjalo? Namhlanje siza kuthetha ngesifo esingaqhelekanga kodwa esiyingozi kakhulu. Esi sibizwa ngokuba yi -Fatal Family Insomnia (FFI) . Eli gama livakala lisoyikisa kancinci, akunjalo? Kodwa masilazi kakuhle.

Yintoni le FFI? Ngamafutshane...

Ngamafutshane, i-FFI (Fatal Family Insomnia) sisifo esingaqhelekanga kakhulu esibangelwa yimfuza. Sichaphazela ngqo ingqondo yakho kunye nenkqubo yemithambo-luvo ephakathi. Esi sifo sibangela ukuba ungalali kakuhle, nto leyo ethetha ukuba unesifo sokungalali kakuhle . Ukongeza, ulahlekelwa yinkumbulo kancinci kancinci, nto leyo ethetha ukuba unesifo sengqondo esixhalabisayo . Usenokuziva ushukuma ngokungazi, okubizwa ngokuba yi -myoclonus .

I-FFI yimeko eqhubekayo, okanye ewohlokayo . Oku kuthetha ukuba iimpawu ziya zisiba mandundu ngokuhamba kwexesha. Okubuhlungu kukuba, iimpawu zibeka ubomi esichengeni, kwaye okwangoku akukho nyango. Nangona kunjalo, izazinzulu ziyaqhubeka nokuphanda unyango olunokuthi lucothise ukuqhubela phambili kwesi sifo kwaye lwandise ubomi babo bonke abachaphazelekileyo.

Ngubani onokuthi abe nethuba elingcono lokuphuhlisa i-FFI?

I-FFI ibangelwa kakhulu yimfuza. Oku kuthetha ukuba ibangelwa ngabantu abazuze i-gene yesi sifo komnye wabazali babo. Ngokwesiqhelo, ukuba kukho umntu kusapho okhe waba nesi sifo ngaphambili, olo sapho lunethuba lokusifumana. Kuba, nokuba nekopi enye ye-gene eguquliweyo kwanele ukubangela ezi mpawu. Oku kubizwa ngokuba yi-autosomal dominant pattern kwizonyango.

Nangona kunjalo, kunqabile kakhulu, umntu ongenalo imbali yosapho lwesi sifo anokuba ne-FFI. Oku kwenzeka xa kuvela utshintsho olutsha lwezakhi zofuzo (de novo mutation). Oku kuthetha ukuba isiphene sezakhi zofuzo sisandula ukwakheka emzimbeni waloo mntu.

Ingaba esi sifo sibizwa ngokuba yi-FFI sinqabile kangakanani?

I-FFI sisifo esingaqhelekanga ngokwenene. Kuqikelelwa ukuba ngumntu omnye okanye ababini kuphela kwisigidi abanale sifo. Ngenxa yokuba i-FFI ifuzo, ziintsapho ezingama-50 ukuya kuma-70 kuphela kwihlabathi liphela ezichongiweyo ngenguqu yezakhi zofuzo ebangela esi sifo. Ngoko ke unokucinga ukuba inqabile kangakanani.

Isifo se-FFI siwuchaphazela njani umzimba wethu?

I-FFI ijolise ngqo kwingqondo yethu nakwinkqubo yemithambo-luvo ephakathi. Iiproteni ezithile ezibangelwa kukuguquka kwezakhi zofuzo zichaphazela i-thalamus, inxalenye yengqondo yethu elawula imisebenzi yomzimba njengokulala.Iyaqokelelana kwindawo apho kuthethwa khona. Khawuthelekelele ukuba endaweni yokusonga iimpahla zakho kakuhle uze uzifake kwikhabhathi yakho, uyazityumza, uzigoqe, uze uzicinezele. Emva kwexesha elithile, ikhabhathi izaliswe ziimpahla kangangokuba awukwazi ukuyivala, akunjalo? Yiyo le ndlela ezi proteni zigobileyo eziqokelelana ngayo kwi-thalamus yengqondo. Ezi proteni ziqokelelweyo zonakalisa kwaye zityhefe iiseli zenkqubo yemithambo-luvo.

Uphawu olubi kakhulu loku kukungalali , olunokuba nefuthe elikhulu kwizakhono zakho zengqondo kunye nokusebenza komzimba. Iimpawu zinokuba yingozi ebomini kwaye ziqhubeke zisiba mandundu ngokuhamba kwexesha.

Zithini iimpawu ze-FFI?

Kukho iimpawu ezininzi ze-FFI, eziqala ukubonakala kancinci kancinci.

• Ukungalali kakuhle: Ekuqaleni, kunokubonakala ngathi unengxaki yokulala, kodwa kamva usenokungakwazi ukulala kwaphela.
• Ukusebenza kakhulu kwenkqubo yemithambo-luvo: Oku kuquka izinto ezifana noxinzelelo lwegazi oluphezulu, ukubetha kwentliziyo ngokukhawuleza kunokwesiqhelo, kunye nokuxhalaba kakhulu.
• Ukulahlekelwa yinkumbulo: Uqala ukulibala izinto kancinci kancinci.
• Izinto ezingabonakaliyo: Ukubona okanye ukuva izinto ezingekhoyo ngokwenene.
• Ukushukuma okanye ukuxhuzula kwemisipha ngokunganyanzelekanga (myoclonus): Ukushukuma okanye ukungcangcazela ingalo okanye umlenze ngokunganyanzelekanga.

Iimpawu ze-FFI zihlala ziqala phakathi kweminyaka engama-20 ukuya kwengama-70 ubudala. Ubudala obuqhelekileyo bokuqalwa bumalunga neminyaka engama-40.

Okubalulekileyo kukuba, iimpawu zokuqala ze-FFI ngamanye amaxesha zinokufana nezo ze -dementia okanye isifo se-Alzheimer . Ke ngoko, ukuba unale mpawu, kubalulekile ukubona ugqirha ukuze ufumane ukuxilongwa ngokufanelekileyo. Njengoko igama lisitsho, ezi mpawu zinokuba yingozi ebomini.

Yintoni ebangela i-FFI?

Eyona nto ibangela i-FFI kukuguquka, okanye utshintsho, kwi -gene ye-PRNP . Le gene ye-PRNP inoxanduva lokwenza i -prion protein i-PrPC . Le protein ye-PrPC ifumaneka kwingqondo yethu, ngakumbi kwi-thalamus, inxalenye yengqondo elawula imisebenzi yomzimba njengokulala.

Xa kukho utshintsho kwi-gene ye-PRNP, ii-amino acids ezenza iproteni ye-PrPC azifumani miyalelo ichanekileyo yokwenza le proteni ngokuchanekileyo. Kufana nokusonga ihempe ngendlela engafanelekanga. Ukuba awazi ukuba ungayisonga njani i-T-shirt ngokuchanekileyo, uyayishwabanisa uze uyifake kwidrowa. Ekuhambeni kwexesha, inqwaba yee-T-shirts ozisonge ngendlela engafanelekanga yenza kube nzima ukuyivala idrowa. Ngendlela efanayo, le proteni ye-PrPC esongelwe ngendlela engafanelekanga iqokelelana engqondweni kwaye ityhefe iiseli zenkqubo yemithambo-luvo, nto leyo ebangela iimpawu.

Ngaba i-FFI inokufumana ilifa?

Ewe, i-FFI inokufunyanwa njengelifa. Olu tshintsho lwemfuzaIdluliselwa ngendlela elawulayo ye-autosomal. Oku kuthetha ukuba nokuba uzuze ilifa le-gene echaphazelekayo komnye wabazali bakho kuphela, usenokufumana ilifa lesifo.

Nangona kunjalo, njengoko bekutshiwo ngaphambili, i-FFI ayifane ibe yi-autosomal recessive, oko kuthetha ukuba akukho mntu kusapho lwakhe owakha waba nesi sifo ngaphambili, kwaye sinokwenzeka njengotshintsho olutsha lwemfuza. Ukuba oko kuyenzeka, olo tshintsho lutsha lunokudluliselwa ukusuka kuwe luye kubantwana bakho bexesha elizayo.

Ukuba ukhulelwe umntwana kwaye ufuna ukwazi ngomngcipheko wakho wokudlulisela isifo semfuza kumntwana wakho, kulungile ukuthetha nogqirha wakho ukuze ufumane ulwazi malunga novavanyo lwemfuza .

Yintoni ebangela ukuba abantu abane-FFI bafe?

Eyona nto ibangela ukufa kubantu abane-FFI kukonakala kwengqondo kunye nenkqubo yemithambo-luvo. Lo monakalo, obangelwa kukuqokelelana kweeproteni ze-prion kwi-thalamus, ubangela iimpawu ezinzima ezifana nokungalali kakuhle kunye nokudodobala kwengqondo.

Kutheni ubuthongo bubaluleke kangaka kuthi?

Ukulala kudlala indima ebaluleke kakhulu ekusigcineni siphilile. Ukulala kakuhle ebusuku kuphucula impilo yakho yengqondo neyomzimba. Xa ulele, ingqondo yakho isebenzisana nomzimba wakho, nto leyo ekuvumela ukuba uvuke uhlaziyekile kwaye unamandla kusasa. Ukuba awulali ngokwaneleyo, ingqondo yakho ilahlekelwa ngamandla ayo okuvuselela. Ichaphazela indlela ocinga ngayo kunye nendlela umzimba wakho osebenza ngayo. Xa ingqondo yakho ingasebenzi nge-100%, ichaphazela indlela umzimba wakho oziva ngayo kwaye wenza ngayo ngenxa yoko.

Abantu abane-FFI abakwazi ukulala, nto leyo ephazamisa kakhulu ukusebenza kwengqondo yabo. Oku kunokukhokelela kwimiphumo emibi enokuba yingozi ebomini kwaye ibeke umngcipheko kwimpilo-ntle yabo iyonke.

Ifunyaniswa njani i-FFI?

Ugqirha wakho uza kuyixilonga i-FFI ngokuphonononga iimpawu zakho aze enze iimvavanyo ezininzi ukuqinisekisa ukuba uxilongiwe. Ezi mvavanyo zingabandakanya:

• I-Polysomnography: Olu luvavanyo olunxulumene nokulala.
• I-Electroencephalogram (EEG): Le ndlela ilinganisa iipatheni zamaza obuchopho.
• Uhlalutyo lweCerebrospinal Fluid (CSF): Olu vavanyo luhlola ulwelo olusebuchotsheni nakwi-spinal cord ukuze kufunyaniswe iimeko ezichaphazela ingqondo kunye ne-spinal cord.
• Uvavanyo lwemfuza ukuze kuchongwe imfuza ebangela iimpawu.
• Uvavanyo lokujonga imifanekiso: Oku kungabandakanya i-MRI (Magnetic Resonance Imaging) , i-CT scan (Computed Tomography scan) , okanye i-PET scan (Positron Emission Tomography scan) .
• Ubalo lwegazi olupheleleyo (i-CBC) , uvavanyo lokusebenza kwesibindi , kunye neenkcubeko zegaziUvavanyo lwelabhoratri olufana nolu.

Iphathwa njani i-FFI?

Eyona nto iphambili kunyango lwe-FFI kukunciphisa iimpawu nokukugcina ukhululekile kangangoko. Ezinye iindlela zonyango, ingakumbi amayeza, zinokunceda ekunciphiseni iimpawu okwethutyana. Nangona kunjalo, okwangoku akukho nyango lwe-FFI.

Iindlela zonyango zingabandakanya:

• Ukunika amayeza okubangela ubuthongo obunzulu (umz. (gamma-hydroxybutyrate) , (phenothiazines) ).
• Nyanga ukuqaqamba kwemisipha ngokunika amayeza anjenge -clonazepam .
• Ukubonelela ngeevithamini ( B6, B12, isinyithi, i-folic acid ).
• Ukuba kukho amayeza enza iimpawu zibe mandundu, tshintsha umthamo wawo okanye uyeke.
• Unyango lwezengqondo: Ukubonelela ngenkxaso yengqondo kwisigulana nakusapho.
• Ukhathalelo lwe-hospice / Ukhathalelo lwe-palliative: Ukwenza iintsuku zokugqibela zesigulana zibe mnandi.

Uphando luyaqhubeka nokufumana iindlela ezintsha zonyango kubantu abane-FFI. Olunye uphando lufumanise ukuba i-antibiotic doxycycline ibonakalise impumelelo ethile ekwandiseni ubomi bezigulane ze-FFI.

Ngawaphi amayeza angasebenziyo ekunyangeni i-FFI?

Amanye amayeza akunceda ulale, afana nezongezo ze -melatonin , asebenza okwethutyana kuphela ukunyanga i-FFI. Uphando lufumanise ukuba amayeza okuthomalalisa , anjengee -barbiturates kunye ne-benzodiazepines , ayilonyango olusebenzayo.

Yintoni enokulindelwa ngumntu one-FFI?

Akukho nyango lwe-FFI. Nje ukuba ifunyaniswe, unyango lujolise ekukugcineni ukhululekile kwaye ulawule iimpawu zakho. Oku kuthetha ukuba unyango oluthomalalisayo lolona luphambili. Ubomi obulindelekileyo kumntu one-FFI bufutshane kakhulu - ingakumbi emva kokuba iimpawu ziqalile, ixesha eliqhelekileyo lokusinda linokuba naphi na ukusuka kwiinyanga ezimbalwa ukuya kwiminyaka emibini. Esi sifo siyaqhubeka.

Ngamaxesha anje, kubaluleke kakhulu ukuba iintsapho zihlangane, zingacingi nje kuphela ngonyango olufunwa sisigulana, kodwa zicinge nangempilo yaso yengqondo, zilungiselele ukulahlekelwa ngumntu esimthandayo ngequbuliso, kwaye zifune inkxaso yonyango ukuba kuyimfuneko.

Ngaba i-FFI ingathintelwa?

I-FFI ayinakuthintelwa. Ngenxa yokuba ibangelwa kukuguquka kwezakhi zofuzo, ngamanye amaxesha inokwenzeka ngokungazi, ngaphandle kokuba amalungu osapho abe nesifo ngaphambili.

Ufanele uye nini kugqirha?

Ukuba unengxaki yokulala, ingakumbi emini, kwaye ayiphucuki, kufuneka ubone ugqirha. Iimpawu ze-FFI ziquka i-dementia kunye nesifo se-Alzheimer.Ukuba unengxaki yokulala, njengokulahlekelwa yinkumbulo kunye nobunzima bokulawula imisebenzi yomzimba, ngenxa yezifo ezifana nesifo sokuwa, ngokuqinisekileyo kuya kufuneka ubone ugqirha.

Ndingayibuza yiphi imibuzo ugqirha wam?

• Ngaba ungacebisa unyango lwe-hospice ngeli xesha lokuxilongwa?
• Zinzima kangakanani iimpawu?
• Ngaba kukho naluphi na unyango olunokunceda ekunciphiseni iimpawu?

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Ukufumana uxilongo lwe-FFI kunokuba ngamava abuhlungu kakhulu, ingakumbi xa iimpawu zisiba mandundu ngokuhamba kweenyanga ezininzi. Nangona kunjalo, awuwedwa ngeli xesha. Funa inkxaso koogqirha bakho, kusapho, kubahlobo, nakwiingcali zempilo yengqondo. Unyango oluthomalalisayo kunye neendlela zonyango zangoku zinokukunceda unciphise okwethutyana iimpawu zakho. Uphando luyaqhubeka ukufumana unyango olusebenzayo olunokwandisa ubomi babantu abanesi sifo. Ngoko ke, musa ukuphelelwa lithemba.

Ukungalali Kosapho Okubulalayo , i-FFI, ukungalali, izifo zemfuza, izifo zobuchopho, inkqubo yemithambo-luvo, izifo ze-prion