Masifunde ngeSifo se-Alzheimer seFamilial (FAD), isifo esidluliselwa kwilifa esibangela ukulahlekelwa yinkumbulo xa usemncinci.

Xa sicinga nge- Alzheimer's , sicinga ngesifo esikhula ngokuhamba kweminyaka size silahlekelwe yinkumbulo kancinci kancinci, akunjalo? Yiyo loo nto. Uninzi lwabantu lufumana i-Alzheimer's emva kweminyaka engama-65. Kodwa ubusazi ukuba, kunqabile kakhulu, kukho nohlobo lwe-Alzheimer's olunokukhula besebancinci, oko kukuthi, nokuba bakwiminyaka yabo engama-30, engama-40, okanye engama-50? Oku kubangelwa yimpembelelo yemfuza edluliselwa kwizizukulwana ngezizukulwana . Namhlanje sithetha ngesi sihloko singaqhelekanga, kodwa sibaluleke kakhulu, isifo se-Alzheimer's sosapho, okanye i-FAD.

Oku kwahluke njani kwisifo se-Alzheimer esiqhelekileyo?

Kukho iintlobo ezimbini eziphambili zesifo sika-Alzheimer. Ukuqonda umahluko phakathi kwezi zimbini kuya kukunceda uqonde ukuba yintoni i-FAD.

Kutheni le nto esi sifo sibizwa ngokuba yi-FAD senzeka?

Ngamafutshane, i-FAD ibangelwa kukuguquka kwezakhi zofuzo okukodwa okudluliselwa kwisizukulwana esinye ukuya kwesinye kusapho.Le gene ibangela ukuba iiproteni ezingaqhelekanga ziqokeleleke engqondweni. Ekuhambeni kwexesha, ezi zinto zonakalisa iiseli zengqondo, zonakalise inkumbulo kunye nezinye iinkqubo zengqondo.

Kuchongwe ii-genes ezintathu eziphambili ezichaphazela oku:

• I-Presenilin 1 (PSEN1)
• I-Presenilin 2 (PSEN2)
• Iprotheyini yokuqala ye-Amyloid (APP)

Utshintsho kwenye yezi jini zintathu lwanele ukubangela i-FAD. Kwezi, oluqhelekileyo lutshintsho kwijini olubizwa ngokuba yi-`PSEN1`.

Ngubani osengozini enkulu yokuhlaselwa sesi sifo?

Oku kucacile. Eyona nto ibalulekileyo ebangela i-FAD yimbali yosapho . Ukuba omnye wabazali bakho une-gene change ebangela i-FAD, unethuba elingama-50% lokuyifumana njengelifa kwaye uphuhlise esi sifo.

Oku kuthetha ukuba ukuba icala likamama wakho linesi sifo, oomalume bakho, ootatomkhulu noomakhulu bakho nabo banokuba nesi sifo. Ngamanye amaxesha, ukuba abazali bakho basweleke besebancinci ngenxa yezinye izizathu, usenokungazi ukuba babenaso na esi sifo okanye akunjalo. Kwiimeko ezinjalo, kunokuba nzima ukwazi umngcipheko wosapho lwakho.

Ngokungafaniyo nesifo sika-Alzheimer esiqhelekileyo, indlela yokuphila kunye nezinto ezisingqongileyo azichaphazeli ngqo uphuhliso lwe-FAD. Unobangela oyintloko lilifa lemfuza.

Zithini iimpawu zesi sifo? Uzibona njani?

Iimpawu ze-FAD zihlala ziqala xa uneminyaka engama-30, engama-40, okanye engama-50 . Kunokuba nzima ukuzibona ekuqaleni. Ungazibona ezi nguqu ngaphambi kokuba usapho lwakho okanye abahlobo bakho bazibone.

Iimpawu eziphambili zinokuba zezi:

• Ukulahlekelwa yinkumbulo: Oku akuyonto iqhelekileyo yokwaluphala. Uqala ukulibala iziganeko zakutshanje kunye neencoko . Le meko iba mandundu ngokuhamba kwexesha.
• Ukungakhathali: Ungaphelelwa ngumdla kwimisebenzi okanye kwizinto ozithandayo obukade uzithanda. Oku kunokubonakala njengoxinzelelo .
• Utshintsho kwindlela yokuziphatha kunye nobuntu:Usenokubona utshintsho olufana nomsindo ongalawulekiyo, ukucaphuka, okanye ukurhanela ngokungeyomfuneko.
• Ubunzima bokuhamba: Usenokuva ubunzima emzimbeni wakho, ukukhubeka xa uhamba, kunye neentshukumo ezicothayo.
• Ukungcangcazela : Ukungcangcazela okungalawulekiyo (iintshukumo zokuxhuzula) kunokwenzeka, kuqala kwiminwe kuze kudlulele kwiingalo nasemilenzeni.
• Ukuxhuzula : Abanye abaguli banokuba nokuxhuzula.
• Ubunzima bokuthetha: Oku kungabandakanya ubunzima bokufumana amagama kunye nentetho engaqondakaliyo.

Eyona nto ibalulekileyo kukuba, kusenokwenzeka ukuba uqale ukuba nezi mpawu xa uneminyaka efanayo nomama okanye utata wakho.

Indlela yokuqinisekisa ngokuchanekileyo isifo?

Ukuba unale mpawu, into yokuqala omawuyenze kukubona ugqirha ofanelekileyo . Ugqirha uza kukubuza ngeempawu zakho, imbali yakho yempilo, ingakumbi imbali yempilo yosapho lwakho.

Kunokwenziwa iimvavanyo ezininzi ukuqinisekisa ukuxilongwa:

1. Uvavanyo lokuqonda: Uza kunikwa uthotho lwemibuzo elula kunye nemisebenzi elinganisa izinto ezifana nenkumbulo yakho, ingqalelo, kunye nobuchule bokusombulula iingxaki.

2. I-Brain scan: I-CT scan okanye i-MRI scan ingacetyiswa ukujonga nawuphi na umonakalo okanye ukuncipha kwengqondo.

3. Uvavanyo lwemfuza: Ukuba unesikrokro esinamandla se-FAD, ingakumbi ukuba uselula kwaye unembali yentsapho yesi sifo, ugqirha wakho unokucebisa uvavanyo lwemfuza. Olu luvavanyo lwegazi olulula. Oku kunokumisela ukuba ngaba unenguqu kwi-genes `APP`, `PSEN1`, okanye `PSEN2`.

Zithini iindlela zonyango zoku?

Ngelishwa, akukho nyango okanye unyango lwe-FAD okwangoku. Nangona kunjalo, kukho amayeza aliqela anokunceda ukulawula iimpawu kunye nokuphucula umgangatho wobomi.

Ugqirha wakho unokucebisa unyango olufana nolu:

• Amayeza anjenge-cholinesterase inhibitors kunye ne-memantine anokunceda ukulawula iimpawu ezinxulumene nenkumbulo.
• Lawula utshintsho lweemvakalelo kunye neengxaki zokuziphatha (umsindo, ukudakumba) ngamayeza anjenge (SSRIs).
• Yahlula amayeza kwiimpawu zomzimba ezifana nokungcangcazela, ukuqina, kunye nokuxhuzula.
• Unyango lwengqondo lunokukunceda uhlale uqinile engqondweni.

Ziziphi iingxaki ezinokwenzeka xa isifo siba sibi kakhulu?

Njengoko isifo siqhubeka ngokuhamba kwexesha, iingxaki ezahlukeneyo zinokubakho. Ukungakwazi ukuhamba nokungakwazi ukuhamba kunokukhokelela kwizilonda zokulala , usulelo lolusu , kunye nokuqhekeka kwegazi .

Enye yezona ngxaki zibalulekileyo neziyingozi kubunzima bokuginya ukutya nokusela . Oku kunokubangela ukuba amasuntswana okutya kunye namanzi angene ngengozi emiphungeni nge-trachea. Oku kunokubangela ukuba iibhaktheriya zingene emiphungeni zize zibangele i-pneumonia enzima (i-aspiration pneumonia). Le yeyona nto ibangela ukufa kubantu abane-Alzheimer's.

Indlela yokuphila nesi sifo?

Nangona i-FAD ingenakuyekiswa, kukho izinto ezininzi wena nosapho lwakho eninokuzenza ukuze ixesha eniphila nalo nesi sifo libe mnandi kwaye libe semgangathweni kangangoko.

• Hlala usebenza ngengqondo kangangoko unako: Yenza imisebenzi eqeqesha ingqondo yakho, njengokufunda iincwadi nokusombulula iiphazili ezilula.
• Hlala usenza umthambo: Ziqhelise umzimba kangangoko unako, njengoko ugqirha wakho ekucebisa.
• Yitya ukutya okunempilo.
• Nciphisa uxinzelelo: Izinto ezifana nokucamngca kunye nokuzilolonga ngokuphefumla kakhulu zinokunceda.
• Yamkela uncedo losapho nabahlobo: Kunzima ukuhamba olu hambo wedwa. Inkxaso yabantu obathandayo ibaluleke kakhulu.
• Joyina amaqela enkxaso: Fumana inkxaso nolwazi kwimibutho enceda izigulane kunye neentsapho zazo ukuba zithande oku.

I-FAD sisifo esinzima, kodwa ngolwazi olufanelekileyo, unyango, nothando nenkxaso yosapho, olu celomngeni lunokujongwana nalo.