Awulali futhi ebusuku? Ingabe uyajikajika amahora amaningi ngemva kokulala? Empeleni lokhu kuyinkinga evamile phakathi kwabaningi bethu. Kodwa, wake wacabanga ukuthi lolu hlobo lokungalali lungaba uphawu lokuqala lwesifo esingavamile kakhulu sofuzo esingaholela ekufeni? Ungakhathazeki, angisho ukuthi unalesi sifo. Ngoba lesi yisifo esingavamile kakhulu emhlabeni. Kodwa kubaluleke kakhulu ukuqaphela lokhu. Ngakho-ke namuhla sizokhuluma ngalesi sifo esiyingozi nesingavamile kakhulu.
Kuyini Ukungalali Komndeni Okubulalayo (i-FFI)?
Naphezu kwegama elithi "Ukungalali" egameni layo, i-FFI empeleni ayisona isifo sokulala.
I-FFI isifo esingavamile sofuzo esidluliselwa kusuka esizukulwaneni kuya kwesinye ngokusebenzisa izakhi zofuzo. Kalula nje, yisimo esibangelwa iphrotheni ebuchosheni bethu eshintshashintshayo futhi ilimaze ubuchopho. Lesi sifo singavamile kangangokuthi ochwepheshe bathi abantu abangaba yi-100 kuphela emindenini engaba ngu-30 emhlabeni wonke ababikwe ukuthi banezakhi zofuzo ezibangela lesi sifo. Ngakho-ke uma ungakwazi ukulala, ithuba lokuthi kungenxa ye-FFI lincane kakhulu, cishe oyedwa kwabayisigidi. Kukhona futhi uhlobo olungeyona i-genetic lwesifo esifanayo, okusho ukuthi sivela ngokuzumayo ngaphandle kwesizathu. Sibizwa ngokuthi i-Sporadic Fatal insomnia (sFI). Ochwepheshe abasazi kahle ukuthi sivela kanjani.
Kungani lesi sifo senzeka? Iyini imbangela?
Imbangela eyinhloko ye-FFI ukuguquka kwezakhi zofuzo `PRPN` emzimbeni wethu. Lesi sakhi sofuzo silawula ukukhiqizwa kweprotheni ebizwa ngokuthi `PrP`. Nakuba umsebenzi oqondile walesi sakhi sofuzo ungakatholakali, ukuguqulwa kwezakhi zofuzo kubangela ukuthi le protheni yakheke ngendlela engalungile. Bese iba yingozi emzimbeni wethu.
Cabanga nje, uma esikhundleni sokufaka ibhola elinesimo esifanele emshinini, sifaka ibhola elinesimo esihlukile elinama-spikes, umshini ubungabhajwa bese uphuka. Yilokhu okwenzekayo nalapha.
Lawa maprotheni anobuthi, anomumo ongalungile aqoqana kancane kancane empilweni yethu engxenyeni yobuchopho ebizwa ngokuthi
i-thalamus . I-thalamus iyisikhungo esilawula izinto eziningi ezibalulekile, njengokulala kwethu, isifiso sokudla, kanye nokushisa komzimba. Ngokuhamba kwesikhathi, lapho la maprotheni anobuthi elimaza i-thalamus, umonakalo ubangela ukuba kuvele izimpawu ze-FFI. Lokhu kuguqulwa kwezakhi zofuzo kudluliselwa ezizukulwaneni ngendlela
elawulwa yi-autosomal . Lokhu kusho ukuthi ukuze uthuthukise lesi sifo, udinga ukuzuza ikhophi eyodwa yezakhi zofuzo eziguquliwe kumama wakho noma kuyihlo.
Uma omunye wabazali bakho enalolu guquko lwezakhi zofuzo, unethuba elingu-50% lokuluthola. Ziyini izimpawu zalesi sifo?
Izimpawu ze-FFI zivame ukuqala ukuvela
phakathi kweminyaka engama-40 nengama-60. Nakuba ziqala zincane kakhulu, lezi zimpawu zingaba zimbi kakhulu ngokushesha. Ake sibheke ukuthi ziyini lezi zimpawu.
Izimpawu zokuqala Izimpawu ezenzeka ngemva kokuba isifo sesiqhubekele phambili
| Uhlobo lwesibonakaliso | Incazelo |
|---|
| Ukungalali | Uphawu oluyinhloko nolusekuqaleni ukuthi ukuqwasha kuya ngokuya kuba kubi ngokuhamba kwesikhathi. |
| Ukudideka nobunzima bokugxilisa ingqondo | Ukukhubazeka kwenkumbulo kanye nekhono lokucabanga ngenxa yokulimala kobuchopho. |
| Izinguquko zomzimba | Umfutho wegazi ophakeme, ukushaya kwenhliziyo okusheshayo, ukwehla kwesisindo okungachazeki, ukujuluka ngokweqile (i-Hyperhidrosis) , kanye nokungakwazi ukulawula izinga lokushisa lomzimba. |
| Izinkinga ezibonakalayo namaphupho | Ukubona okukabili kanye namaphupho acacile kakhulu, angajwayelekile yize ungavamile ukulala. |
| I-Ataxia | Ukungakwazi ukulawula ukunyakaza komzimba, njengokuzulazula ngenkathi uhamba. |
| Izici zengqondo | Ukubona izinto ezingabonakali (i-Hallucinations), ukudideka okukhulu (i-Delirium). |
| Ubunzima bokugwinya (i-Dysphagia) | Ukungakwazi ukugwinya ukudla noma uketshezi. |
Eziningi zalezi zimpawu zibangelwa ukungalali kahle kanye nokulimala kobuchopho. Ngokudabukisayo, iziguli eziningi ziyafa ngenxa yokuhlaselwa yinhliziyo noma ezinye izifo ezithelelanayo
zingakapheli izinyanga eziyi-6 kuya kwezingama-36 (iminyaka emi-3) kusukela ekuqaleni kwezimpawu.
Udokotela usithola kanjani lesi sifo?
Uma udokotela wakho esola ukuthi une-FFI, uzokwenza izivivinyo eziningana ukuze aqinisekise lokho.
- Ukubuza ngomlando wezokwelapha womndeni: Njengoba lesi kuyisifo esibangelwa ufuzo, kubaluleke kakhulu ukuthola ukuthi kukhona yini emndenini oye waba nezimpawu ezifanayo.
- Ukuhlolwa ngokomzimba : Izimpawu zihlolwa ngokucophelela.
- Ukuhlolwa kwezakhi zofuzo : Isampula yegazi ihlolwa ukuze kutholakale uguquko ku-'PRN' gene.
- Ucwaningo Lokulala: Amaphethini okulala aqashwa ngaphansi kwemishini ekhethekile esibhedlela.
- Ukuhlolwa Koketshezi Lomgogodla: Ukuhlolwa koketshezi lomgogodla oluthathwe emgogodleni .
Kwezinye izimo, uma umuntu efa ngaphambi kokuba lesi sifo sitholakale, i-FFI ingaqinisekiswa ngokuhlola ubuchopho ngesikhathi sokuhlolwa kwesidumbu.
Yiziphi izindlela zokwelapha lokhu?
Kubalulekile ukusho ngokusobala ukuthi okwamanje akukho ukwelashwa emhlabeni okungase kuphulukise lesi sifo ngokuphelele.
Ukwelashwa kwe-FFI kugxile ekuphatheni izimpawu nokunikeza isiguli impumuzo enkulu ngangokunokwenzeka. Ngenxa yokuthi yisifo esingavamile kakhulu, ayikho indlela yokwelapha ejwayelekile. Ithimba lochwepheshe bezempilo, okuhlanganisa nodokotela wezinzwa kanye nodokotela wezifo zengqondo, lizosebenzisana ukuthola ukwelashwa okufanele kwesiguli. Ukwelashwa kuvame ukufaka:
- Ukuhlinzeka ngamavithamini kanye nezakhamzimba ezengeziwe.
- Ukuhlinzeka ngokudla okunempilo.
- Uma uphuza eminye imithi eyenza izimpawu zakho zibe zimbi kakhulu, yeka noma uyishintshe .
- Ukunikeza imithi ethile yokudambisa ubuthongo noma i-melatonin ukuze kusize ekulaleni, njengoba kuyalelwe udokotela.
- Ukunikeza iseluleko sokuthola impumuzo yengqondo.
Ukuze kuvinjelwe lesi sifo ukuthi singasabalali kwamanye amalungu omndeni esikhathini esizayo, udokotela angase eluleke wonke amalungu omndeni ukuthi ahlolwe izakhi zofuzo.
Kufanele ngimbone nini udokotela?
Ngiyaphinda, uma unenkinga yokulala, amathuba okuba yi-FFI aphansi kakhulu. Ngakho ungakhathazeki ngakho ngokungadingekile.
Kodwa-ke, uma unenkinga yokulala isikhathi eside, noma uma unezinye izimpawu ezifana nokudideka noma ubunzima bokuhamba nokungalali kahle,
bona udokotela wakho ngokushesha. Ngoba lezo zimpawu kungenzeka zingabi yi-FFI, kodwa zingaba uphawu lwesinye isimo esingelapheka. Ngakho-ke, kubaluleke kakhulu ukuthola ukuxilongwa okufanele nokufuna ukwelashwa okudingekayo.
Umlayezo Wokuya Nawe Ekhaya
- Ukungalali Komndeni Okubulalayo (i-FFI) akuyona inkinga evamile yokulala. Kuyisifo esingavamile kakhulu, esibulalayo esithinta izakhi zofuzo esilimaza ubuchopho.
- Ngisho noma unenkinga yokulala, amathuba okuba yi-FFI aphansi kakhulu, ngakho ungakhathazeki ngokungadingekile.
- Uphawu oluyinhloko lwalesi sifo ukungakwazi ukulala, okuqhubeka nokuba kubi ngokuhamba kwesikhathi. Ngaphezu kwalokho , izimpawu zezinzwa ezifana nokuphazamiseka kokunyakaza kanye nokudideka nazo ziyavela.
- Uma othile emndenini wakho ene-FFI futhi unezinkinga zokulala, funa iseluleko sezokwelapha ngokushesha.
- Uma unenkinga yokulala isikhathi eside noma ezinye izimpawu ezihlobene, qiniseka ukuthi ubona udokotela wakho ukuze anqume ezinye izimo ezingelapheka.
Ukungalali Komndeni Okubulalayo, i-FFI, ukungakwazi ukulala, izifo zofuzo, isifo se-prion, izinkinga zokulala, izifo zobuchopho
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