Ake sifunde ngesifo i-Familial Alzheimer's Disease (FAD), isifo esidluliselwa ngofuzo esibangela ukulahlekelwa yinkumbulo esemncane.

Uma sicabanga ngesifo i-Alzheimer's , sicabanga ngesifo esikhula ngokuguga futhi kancane kancane silahlekelwe yinkumbulo, akunjalo? Kuyiqiniso lokho. Iningi labantu liba ne -Alzheimer's ngemva kweminyaka engu-65. Kodwa bewazi ukuthi, akuvamile kakhulu, kukhona nohlobo lwe-Alzheimer's olungakhula lusencane, okungukuthi, ngisho naseminyakeni yabo yo-30, 40, noma 50? Lokhu kubangelwa ithonya lezakhi zofuzo elidluliselwa ezizukulwaneni ngezizukulwane . Namuhla sikhuluma ngalesi sihloko esingavamile, kodwa esibaluleke kakhulu, isifo se-Alzheimer's somndeni, noma i-FAD.

Lokhu kuhluke kanjani kwisifo se-Alzheimer esivamile?

Kunezinhlobo ezimbili eziyinhloko zesifo i-Alzheimer's. Ukuqonda umehluko phakathi kwalezi ezimbili kuzokusiza uqonde ukuthi iyini i-FAD.

Kungani lesi sifo esibizwa ngokuthi i-FAD senzeka?

Kalula nje, i-FAD ibangelwa ukuguquka kwezakhi zofuzo okukodwa okudluliselwa kusuka esizukulwaneni kuya kwesinye emndenini.I-gene ibangela ukwakheka kwamaprotheni angajwayelekile ebuchosheni. Ngokuhamba kwesikhathi, lokhu kulimaza amangqamuzana obuchopho, kuphazamise inkumbulo kanye nezinye izinqubo zengqondo.

Kutholakale izakhi zofuzo ezintathu eziyinhloko ezithinta lokhu:

• I-Presenilin 1 (PSEN1)
• I-Presenilin 2 (PSEN2)
• Iphrotheni eyandulela i-Amyloid (APP)

Ukuguquka kwesinye salezi zakhi zofuzo ezintathu kwanele ukubangela i-FAD. Kulezi, okuvamile kakhulu ukuguqulwa kwezakhi zofuzo okubizwa ngokuthi `PSEN1`.

Ubani osengozini enkulu yokuthola lesi sifo?

Lokhu kusobala impela. Isici esisodwa esibaluleke kakhulu sengozi ye-FAD umlando womndeni . Uma omunye wabazali bakho ene-gene mutation ebangela i-FAD, unethuba elingu-50% lokuyithola njengefa futhi ube nalesi sifo.

Lokhu kusho ukuthi uma uhlangothi lukamama wakho lunalesi sifo, omalume bakho, omalume bakho, ogogo nomkhulu, kanye nogogo nomkhulu bakho kulolo hlangothi nabo bangase babe nalesi sifo. Ngezinye izikhathi, uma abazali bakho bashona besebancane ngenxa yezinye izizathu, ungase ungazi ukuthi babenaso yini lesi sifo noma cha. Ezimweni ezinjalo, kungaba nzima ukwazi ubungozi bomndeni wakho.

Ngokungafani nesifo esivamile se-Alzheimer's, indlela yokuphila kanye nezici zemvelo azithinti ngqo intuthuko ye-FAD. Imbangela eyinhloko ufuzo.

Ziyini izimpawu zalesi sifo? Uzibona kanjani?

Izimpawu ze-FAD zivame ukuqala eminyakeni yakho engama-30, 40, noma 50. Kungaba nzima ukuzibona ekuqaleni. Ungase uzibone lezi zinguquko ngaphambi kokuba umndeni wakho noma abangani bakho bazibone.

Izimpawu eziyinhloko zingaba:

• Ukulahlekelwa yinkumbulo: Lokhu akuyona ingxenye evamile yokuguga. Uqala ukukhohlwa izenzakalo nezingxoxo zakamuva. Lesi simo siba sibi kakhulu ngokuhamba kwesikhathi.
• Ukunganaki: Ungase ulahlekelwe yisithakazelo emisebenzini noma ezintweni ozithandayo owawuzijabulela. Lokhu kungabonakala njengokucindezeleka .
• Izinguquko ekuziphatheni nasebuntwini:Ungase uqaphele izinguquko ezifana nokuthukuthela okungalawuleki, ukucasuka, noma ukusola ngokungadingekile.
• Ubunzima bokuhamba: Ungase uzwe ukuqina komzimba wakho, ukukhubeka ngenkathi uhamba, kanye nokunyakaza okuhamba kancane.
• Ukuthuthumela : Ukuthuthumela okungalawuleki (ukunyakaza kokudlikiza) kungase kwenzeke, kuqala eminweni bese kusakazekela ezingalweni nasemilenzeni.
• Ukuquleka : Ezinye iziguli zingase zibe nokuquleka.
• Ubunzima bokukhuluma: Lokhu kungafaka phakathi ubunzima bokuthola amagama kanye nenkulumo engaqondakali.

Into ebalulekile ukuthi, cishe uzoqala ukuzwa lezi zimpawu cishe eminyakeni efanayo nonyoko noma ubaba wakho.

Indlela yokuqinisekisa ngokunembile lesi sifo?

Uma unalezi zimpawu, into yokuqala okufanele uyenze ukubona udokotela ofanelekayo . Udokotela uzobuza ngezimpawu zakho, umlando wakho wezempilo, futhi ikakhulukazi umlando wempilo yomndeni wakho.

Kungenziwa izivivinyo eziningana ukuqinisekisa ukuxilongwa:

1. Ukuhlolwa kokuqonda: Uzonikezwa uchungechunge lwemibuzo elula nemisebenzi elinganisa izinto ezifana nenkumbulo yakho, ukunaka, kanye namakhono okuxazulula izinkinga.

2. Ukuskena kobuchopho: Kunganconywa ukuskena kwe-CT noma i-MRI ukuze kuhlolwe noma yimuphi umonakalo noma ukuncipha kobuchopho.

3. Ukuhlolwa kwezakhi zofuzo: Uma usola kakhulu nge-FAD, ikakhulukazi uma usemncane futhi unomlando womndeni walesi sifo, udokotela wakho angase akuncome ukuhlolwa kwezakhi zofuzo. Lokhu ukuhlolwa kwegazi okulula. Lokhu kunganquma ukuthi une-mutation yini kuma-gene `APP`, `PSEN1`, noma `PSEN2`.

Yiziphi izindlela zokwelapha lokhu?

Ngeshwa, akukho ukwelashwa noma ikhambi le-FAD okwamanje. Kodwa-ke, kunemithi eminingana engasiza ekulawuleni izimpawu nokuthuthukisa ikhwalithi yokuphila.

Udokotela wakho angase ancome izindlela zokwelapha ezifana nalezi:

• Imithi efana ne-cholinesterase inhibitors kanye ne-memantine ingasiza ekulawuleni izimpawu ezihlobene nenkumbulo.
• Imithi efana ne-(SSRIs) ingasiza ekulawuleni ukushintshashintsha kwemizwelo nezinkinga zokuziphatha (intukuthelo, ukucindezeleka).
• Hlukanisa imithi yezimpawu zomzimba njengokuthuthumela, ukuqina, kanye nokuxhuzula.
• Ukwelashwa kwengqondo kungakusiza futhi ukuthi uhlale uqinile engqondweni.

Yiziphi izinkinga ezingaba khona uma lesi sifo siba sibi kakhulu?

Njengoba lesi sifo siqhubeka ngokuhamba kwesikhathi, kungaba nezinkinga ezahlukahlukene. Ukungakwazi ukuhamba nokungakwazi ukuhamba kungaholela ezilondeni zokulala , izifo zesikhumba , kanye namahlule egazi .

Enye yezinkinga ezibaluleke kakhulu neziyingozi ubunzima bokugwinya ukudla nokuphuza . Lokhu kungabangela ukuthi izinhlayiya zokudla namanzi kungene ngamaphutha emaphashini nge-trachea. Lokhu kungaholela ekutheni amagciwane angene emaphashini futhi kubangele i-pneumonia enzima (i-aspiration pneumonia). Lesi yimbangela enkulu yokufa kweziguli ezine-Alzheimer's.

Ungaphila kanjani nalesi sifo?

Nakuba i-FAD ingenakuvinjelwa, kunezinto eziningana wena nomndeni wakho eningazenza ukuze isikhathi eniphila nalesi sifo sibe sikhululeke futhi sibe sezingeni eliphezulu ngangokunokwenzeka.

• Hlala uphapheme engqondweni ngangokunokwenzeka: Yenza imisebenzi eqeqesha ubuchopho bakho, njengokufunda izincwadi nokuxazulula amaphazili alula.
• Hlala umatasa ngokomzimba: Zivocavoce kalula ngangokunokwenzeka, njengoba kunconywa udokotela wakho.
• Yidla ukudla okunempilo.
• Nciphisa ukucindezeleka: Izinto ezifana nokuzindla kanye nokuzivocavoca ngokuphefumula okujulile zingasiza.
• Yamukela usizo lomndeni nabangane: Kunzima ukudlula kulolu hambo wedwa. Ukusekelwa ngabathandekayo kubaluleke kakhulu.
• Joyina amaqembu okusekela: Thola ukwesekwa nolwazi ezinhlanganweni ezisiza iziguli nemindeni yazo ukuthi zithande lokhu.

I-FAD iyisifo esiyinselele, kodwa ngolwazi olufanele, ukwelashwa kwezokwelapha, kanye nothando lomndeni kanye nokusekelwa, le nselele ingaxazululwa.