Ingabe ukulala kuyiphupho nje? Ake sixoxe nge-Fatal Family Insomnia (FFI).

Kuvamile ukuthi singakwazi ukulala ebusuku ngezinye izikhathi. Mhlawumbe kwenzeka ngemva kosuku olunzima noma lapho sinenkinga ethile engqondweni yethu. Kodwa, ungacabanga ngesifo esibulalayo esingenakukwenza ulale kahle, futhi naso siwufuzo? Kunzima ngempela ukusicabanga, akunjalo? Namuhla sizokhuluma ngesifo esingavamile kodwa esiyingozi kakhulu. Lokhu kubizwa ngokuthi i-Fatal Familyal Insomnia (FFI) . Leli gama lizwakala liyesabeka kancane, akunjalo? Kodwa ake silazi kahle.

Iyini le-FFI? Kalula nje...

Kalula nje, i-FFI (Fatal Family Insomnia) yisifo esingavamile kakhulu esibangelwa izakhi zofuzo. Sithinta ngqo ubuchopho bakho kanye nesistimu yezinzwa ephakathi. Lesi sifo sikwenza ungalali kahle, okusho ukuthi unesifo sokungalali kahle . Ngaphezu kwalokho, kancane kancane ulahlekelwa inkumbulo yakho, okusho ukuthi unesifo sokuwohloka komqondo . Ungase futhi uzizwe ushukuma kwemisipha ngokungazi, okubizwa ngokuthi i-myoclonus .

I-FFI yisimo esiqhubekayo, noma esiwohlokayo . Lokhu kusho ukuthi izimpawu ziya ziba zimbi kakhulu ngokuhamba kwesikhathi. Ngokudabukisayo, izimpawu zisongela ukuphila, futhi okwamanje akukho ikhambi. Kodwa-ke, ososayensi bayaqhubeka nokucwaninga izindlela zokwelapha ezinganciphisa ukuqhubeka kwalesi sifo futhi zandise isikhathi sokuphila salabo abathintekile.

Ubani onamathuba amaningi okuthuthukisa i-FFI?

I-FFI ibangelwa kakhulu izakhi zofuzo. Lokhu kusho ukuthi ibangelwa abantu abazuza isakhi sofuzo salesi sifo komunye wabazali babo. Ngokuvamile, uma othile emndenini wake waba nalesi sifo ngaphambili, lowo mndeni unethuba lokusithola. Ngoba, ngisho nokuba nekhophi eyodwa yesakhi sofuzo esiguquliwe kwanele ukubangela lezi zimpawu. Lokhu kubizwa ngokuthi iphethini elibusayo le-autosomal kwezokwelapha.

Kodwa-ke, akuvamile kakhulu, ukuthi umuntu ongenawo umlando womndeni walesi sifo athole i-FFI. Lokhu kwenzeka lapho kuvela uguquko olusha lwezakhi zofuzo (de novo mutation). Lokhu kusho ukuthi iphutha lezakhi zofuzo lisanda kwakheka emzimbeni walowo muntu.

Kungavamile kangakanani lesi sifo esibizwa ngokuthi i-FFI?

I-FFI empeleni iyisifo esingavamile kakhulu. Kulinganiselwa ukuthi umuntu oyedwa noma ababili kuphela kwabayisigidi abanalesi sifo. Ngenxa yokuthi i-FFI iyizakhi zofuzo, imindeni engaba ngu-50 kuya ku-70 kuphela emhlabeni wonke eye yatholakala inezakhi zofuzo ezibangela lesi sifo. Ngakho ungacabanga ukuthi singavamile kangakanani.

Isifo se-FFI sithinta kanjani imizimba yethu?

I-FFI ihlose ngqo ubuchopho bethu kanye nesistimu yethu yezinzwa ephakathi. Amaprotheni athile abangelwa ukuguquka kwezakhi zofuzo athinta i-thalamus, ingxenye yobuchopho bethu elawula imisebenzi yomzimba njengokulala.Iyaqoqana endaweni lapho kushiwo khona. Cabanga ukuthi esikhundleni sokugoqa izingubo zakho kahle bese uzibeka ekhabetheni lakho, uyazichoboza, uzigoqe, bese uzicindezela. Ngemva kwesikhashana, ikhabethe ligcwala izingubo kangangokuthi awukwazi ukulivala, akunjalo? Yileyo ndlela lawa maphrotheni aqoqekile aqoqana ngayo e-thalamus yobuchopho. Lawa maphrotheni aqoqekile alimaza futhi afaka ubuthi emaseli esimiso sezinzwa.

Uphawu olubi kakhulu lwalokhu ukungakwazi ukulala , okungaba nomthelela omkhulu emakhonweni akho engqondo kanye nokusebenza komzimba. Izimpawu zingaba yingozi empilweni futhi ziqhubeke ziba zimbi ngokuhamba kwesikhathi.

Ziyini izimpawu ze-FFI?

Kunezimpawu eziningana ze-FFI, eziqala ukuvela kancane kancane.

• Ukungalali okuqhubekayo: Ekuqaleni, kungase kubonakale sengathi unenkinga yokulala, kodwa kamuva ungase ungakwazi ukulala nhlobo.
• Ukusebenza ngokweqile kwesimiso sezinzwa: Lokhu kuhlanganisa izinto ezifana nomfutho wegazi ophakeme, ukushaya kwenhliziyo okusheshayo kunokuvamile, kanye nokukhathazeka ngokweqile.
• Ukulahlekelwa yinkumbulo: Kancane kancane uqala ukukhohlwa izinto.
• Ukuphupha izinto ezingekho: Ukubona noma ukuzwa izinto ezingekho ngempela.
• Ukunyakazisa noma ukudlikiza kwemisipha okungazikhetheli (myoclonus): Ukudlikiza noma ukudlikiza ingalo noma umlenze ngokungazikhetheli.

Izimpawu ze-FFI zivame ukuqala phakathi kweminyaka engama-20 nengama-70. Ubudala obuvame kakhulu bokuqala bungaba yiminyaka engama-40.

Okubalulekile ukuthi izimpawu zokuqala ze-FFI ngezinye izikhathi zingafana neze- dementia noma isifo i-Alzheimer's . Ngakho-ke, uma unalezi zimpawu, kubalulekile ukubona udokotela ukuze uthole ukuxilongwa okufanele. Njengoba igama lisho, lezi zimpawu zingaba yingozi empilweni.

Yini ebangela i-FFI?

Imbangela eyinhloko ye-FFI ukuguquka kwezakhi zofuzo ze-PRNP . Le gene ye-PRNP inesibopho sokwenza iphrotheni ye-prion i-PrPC . Le phrotheni ye-PrPC itholakala ebuchosheni bethu, ikakhulukazi ku-thalamus, ingxenye yobuchopho elawula imisebenzi yomzimba njengokulala.

Uma kukhona ukuguquka kwezakhi zofuzo ze-PRNP, ama-amino acid enza iphrotheni ye-PrPC awatholi imiyalelo efanele yokwenza le phrotheni ngendlela efanele. Kufana nokugoqa ihembe ngendlela engafanele. Uma ungazi ukuthi ungayigoqa kanjani i-T-shirt ngendlela efanele, uyayigoqa bese uyibeka edroweni. Ngokuhamba kwesikhathi, inqwaba yama-T-shirt owagoqe ngendlela engafanele yenza kube nzima ukuvala idrowa. Ngendlela efanayo, le phrotheni ye-PrPC egoqeke ngendlela engafanele iqoqana ebuchosheni futhi ifake ubuthi emaseli esimiso sezinzwa, okuyikho okubangela izimpawu.

Ingabe i-FFI ingazuzwa njengefa?

Yebo, i-FFI ingazuzwa njengefa. Lokhu kuguqulwa kwezakhi zofuzoIdluliselwa ngendlela elawulwa yi-autosomal. Lokhu kusho ukuthi noma ngabe uzuze ifa lofuzo elithintekile komunye wabazali bakho kuphela, usengakwazi ukuzuza lesi sifo.

Kodwa-ke, njengoba kushiwo ngaphambili, i-FFI ayivamile ukuba yi-autosomal recessive, okusho ukuthi akekho emndenini oke waba nalesi sifo ngaphambili, futhi singavela futhi njengoguquko olusha lwezakhi zofuzo. Uma lokho kwenzeka, lolo guquko olusha lungadluliselwa kusuka kuwe luye ezinganeni zakho zesikhathi esizayo.

Uma ukhulelwe ingane futhi ufuna ukwazi ngengozi yakho yokudlulisela isifo sofuzo enganeni yakho, kuwumqondo omuhle ukukhuluma nodokotela wakho uthole ulwazi mayelana nokuhlolwa kofuzo .

Yini ebangela ukufa kwabantu abane-FFI?

Imbangela enkulu yokufa kubantu abane-FFI ukulimala kobuchopho kanye nesistimu yezinzwa. Lo monakalo, obangelwa ukuqongelela kwamaprotheni e-prion ku-thalamus, ubangela izimpawu ezinzima ezifana nokungalali kahle kanye nokwehla kwengqondo.

Kungani ukulala kubaluleke kangaka kithi?

Ukulala kudlala indima ebaluleke kakhulu ekusigcineni siphilile. Ukulala kahle ebusuku kuthuthukisa impilo yakho yengqondo neyomzimba. Uma ulele, ubuchopho bakho busebenza ndawonye nomzimba wakho, okuyikho okukuvumela ukuthi uvuke uqabulekile futhi unamandla ekuseni. Uma ungalali ngokwanele, ubuchopho bakho bulahlekelwa amandla abo okuvuselela umzimba. Kuthinta indlela ocabanga ngayo nendlela umzimba wakho osebenza ngayo. Uma ubuchopho bakho bungasebenzi ngo-100%, kuthinta indlela umzimba wakho ozizwa ngayo futhi oziphatha ngayo ngenxa yalokho.

Abantu abane-FFI abakwazi ukulala, okuphazamisa kakhulu ukusebenza kobuchopho babo. Lokhu kungaholela emiphumeleni emibi engaba yingozi empilweni futhi ibeke inselele inhlalakahle yabo iyonke.

I-FFI ihlolwa kanjani?

Udokotela wakho uzoxilonga i-FFI ngokubukeza izimpawu zakho nokwenza izivivinyo eziningana ukuqinisekisa ukuxilongwa. Lezi zivivinyo zingafaka:

• I-Polysomnography: Lolu vivinyo oluhlobene nokulala.
• I-Electroencephalogram (EEG): Lokhu kulinganisa amaphethini wamagagasi obuchopho.
• Ukuhlaziywa kwe-Cerebrospinal Fluid (CSF): Lokhu kuhlolwa kuhlola uketshezi olusebuchosheni kanye nomgogodla ukuze kutholakale izimo ezithinta ubuchopho kanye nomgogodla.
• Ukuhlolwa kwezakhi zofuzo ukuze kutholakale izakhi zofuzo ezibangela izimpawu.
• Ukuhlolwa kokuthatha izithombe: Lokhu kungafaka phakathi i-MRI (Magnetic Resonance Imaging) , i-CT scan (Computed Tomography scan) , noma i-PET scan (Positron Emission Tomography scan) .
• I-Complete Blood Count (CBC) , ukuhlolwa kokusebenza kwesibindi , kanye nokuhlolwa kwegaziUkuhlolwa kwelebhu okufana.

Iphathwa kanjani i-FFI?

Umgomo oyinhloko wokwelashwa kwe-FFI ukuqeda izimpawu nokukugcina ukhululekile ngangokunokwenzeka. Ezinye izindlela zokwelapha, ikakhulukazi imithi, zingasiza ekunciphiseni izimpawu okwesikhashana. Kodwa-ke, okwamanje akukho ukwelashwa kwe-FFI.

Izinketho zokwelapha zingafaka:

• Ukunikeza izidakamizwa zokubangela ubuthongo obujulile (isib. (i-gamma-hydroxybutyrate) , (ama-phenothiazines) ).
• Yelapha ukuqaqamba kwemisipha ngokunikeza imithi efana ne -clonazepam .
• Ukunikeza amavithamini ( B6, B12, insimbi, i-folic acid ).
• Uma kunemithi eyenza izimpawu zibe zimbi kakhulu, shintsha umthamo wazo noma uyeke.
• Ukwelashwa kwengqondo: Ukunikeza ukwesekwa kwengqondo esigulini nasemndenini.
• Ukunakekelwa kwe-hospice / Ukunakekelwa kwe-palliative: Ukwenza izinsuku zokugcina zesiguli zibe zikhululekile.

Ucwaningo luyaqhubeka nokuthola izindlela ezintsha zokwelapha abantu abane-FFI. Ucwaningo olulodwa luthole ukuthi i-antibiotic doxycycline ibonise impumelelo ethile ekwandiseni impilo yeziguli ze-FFI.

Yimiphi imithi engasebenzi kahle ekwelapheni i-FFI?

Eminye imithi ekusiza ulale, njengezithasiselo ze -melatonin , isebenza okwesikhashana kuphela ukwelapha i-FFI. Ucwaningo luthole ukuthi imithi yokudambisa , njenge -barbiturates kanye ne-benzodiazepines , ayiyona indlela yokwelapha ephumelelayo.

Yini umuntu one-FFI angayilindela?

Akukho ukwelashwa kwe-FFI. Uma isitholakele, ukwelashwa kuhloselwe ukukugcina ukhululekile nokuphatha izimpawu zakho. Lokhu kusho ukuthi ukunakekelwa kokunciphisa ubuhlungu yikona okuyinhloko. Isikhathi sokuphila somuntu one-FFI sifushane kakhulu - ikakhulukazi ngemva kokuqala kwezimpawu, isikhathi sokusinda esimaphakathi singaba noma yikuphi kusukela ezinyangeni ezimbalwa kuya eminyakeni emibili. Lesi sifo siyaqhubeka.

Ngezikhathi ezinjengalezi, kubaluleke kakhulu ukuthi imindeni ihlangane, ingacabangi nje kuphela ngokunakekelwa isiguli esikudingayo, kodwa futhi nempilo yaso yengqondo, ilungiselele ukulahlekelwa ngokuzumayo kothandekayo, futhi ifune ukwesekwa kokwelashwa uma kudingeka.

Ingabe i-FFI ingavinjelwa?

I-FFI ayinakuvinjelwa. Ngenxa yokuthi ibangelwa ukuguquka kwezakhi zofuzo, ngezinye izikhathi ingenzeka ngokuzenzakalelayo, ngaphandle kwamalungu omndeni ake aba nalesi sifo ngaphambili.

Kufanele ubonane nini nodokotela?

Uma unenkinga yokulala, ikakhulukazi emini, futhi kungapholi, kufanele ubonane nodokotela. Izimpawu ze-FFI zifaka phakathi i-dementia kanye nesifo i-Alzheimer's.Uma unenkinga yokulala, njengokulahlekelwa yinkumbulo nobunzima bokulawula imisebenzi yomzimba, ngenxa yezifo ezifana nesifo sokuwa, kufanele nakanjani ubone udokotela.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Ungancoma yini ukunakekelwa kwe-hospice kuleli qophelo lokuxilongwa?
• Zinzima kangakanani izimpawu?
• Ingabe kukhona izindlela zokwelapha ezingasiza ekunciphiseni izimpawu?

Okokugcina, okufanele ukukhumbule (Umyalezo Wokuya Ekhaya)

Ukuthola ukuxilongwa kwe-FFI kungaba yinto ebuhlungu kakhulu, ikakhulukazi lapho izimpawu ziba zimbi kancane kancane phakathi nezinyanga eziningana. Kodwa-ke, awuwedwa kulesi sikhathi. Funa ukwesekwa kodokotela bakho, umndeni, abangane, kanye nochwepheshe bezempilo yengqondo. Ukunakekelwa kwe-palliative kanye nezinketho zokwelapha zamanje kungasiza ekunciphiseni izimpawu zakho okwesikhashana. Ucwaningo luyaqhubeka ukuthola izindlela zokwelapha eziphumelela kakhulu ezingandisa izimpilo zabantu abanalesi sifo. Ngakho-ke, ungalilahli ithemba.

Ukungalali Komndeni Okubulalayo , i-FFI, ukungakwazi ukulala, izifo zofuzo, izifo zobuchopho, isimiso sezinzwa, izifo ze-prion