Uyazazi yini izifo zika-Alexander? Ake sixoxe ngalesi simo esingavamile!

Wake wezwa nge-Alexander Disease? Cishe awukaze wezwa ngayo. Isizathu ukuthi iyisimo sezinzwa esingavamile kakhulu emhlabeni. Kodwa, kuyafaneleka ukuba nolwazi oluthile ngezifo ezinjengalesi, akunjalo? Ikakhulukazi njengoba sihlala sikhathazekile ngempilo nentuthuko yezingane zethu, kubalulekile ukuqaphela izinto ezinjengalesi.

Iyini i-Alexander Disease? Masiyiqonde kalula!

Kulungile, ake sibone ukuthi iyini i-Alexander Disease. Kalula nje, yisifo esithinta uhlelo lwethu lwezinzwa, uhlelo oluthwala imiyalezo emzimbeni wonke . Ngokukhethekile, luthinta "into emhlophe" ebuchosheni bethu. Le nto emhlophe yingxenye yobuchopho eyenziwe ngemicu eminingi yezinzwa.

Lesi sifo singeseqembu lezifo ezibizwa ngokuthi i-leukodystrophy . Nakuba leli gama lingase lizwakale liyinkimbinkimbi kancane, libhekisela ezifweni ezilimaza into emhlophe yobuchopho.

Esifweni sika-Alexander, umonakalo omkhulu uyingxenye ebizwa ngokuthi i-myelin . I-Myelin iyisivikelo esivikelayo esizungeze imicu yezinzwa zethu. Cabanga ngayo njengesivikelo sepulasitiki esizungeze ucingo lukagesi. Lesi sivikelo se-myelin yisona esivumela imiyalezo yezinzwa ukuthi ihambe kahle futhi ngokushesha. Ngakho-ke, lapho le-myelin yonakele, inqubo yokudluliselwa kwemiyalezo yezinzwa iyaphazamiseka.

Ngenxa yalokho, umuntu one-Alexander syndrome angase abe nezinkinga ezahlukahlukene, njengokulibaziseka kokukhula kanye nokuquleka . Ngeshwa, lesi sifo siyisimo esiqhubekayo, ngezinye izikhathi esisongela ukuphila. Okwamanje akukho ukwelashwa kwaso.

Sivame kangakanani lesi sifo?

Isifo sika-Alexander siyisifo esingavamile kakhulu . Kulinganiselwa ukuthi lesi sifo senzeka cishe koyedwa kwabayisigidi abazalwayo . Lesi sifo saqala ukutholakala ngo-1949 nguDkt. W. Stewart Alexander , udokotela wase-Australia. Yingakho sibizwa ngokuthi isifo sika-Alexander.

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Ingabe zikhona izinhlobo zesifo sika-Alexander?

Yebo, odokotela bahlukanisa lesi sifo ngokweminyaka lapho izimpawu ziqala ukuvela khona. Kunezinhlobo eziningana eziyinhloko:

• Uhlobo lwezinsana ezisanda kuzalwa: Lokhu akuvamile kakhulu. Izimpawu zivela phakathi nenyanga yokuqala yokuphila.
• Uhlobo lwezinsana: Lolu hlobo lubangela cishe u-80% wokuxilongwa kwe-Alexander syndrome. Izimpawu zivame ukuqala ngaphambi kweminyaka emi-2 .
• Uhlobo lwentsha: Izimpawu zingavela phakathi kweminyaka emi-2 neyi-13. Kodwa-ke, zivame kakhulu phakathi kweminyaka emi-4 neyi-10. Cishe u-14% wazo zonke izifo ezitholakalayoKungokwalolu hlobo.
• Uhlobo lwabantu abadala: Lokhu futhi akuvamile kakhulu. Izimpawu ngokuvamile zincane. Lesi simo singavela kunoma yimuphi ubudala ngemva kokuthomba . Cishe u-6% wokuxilongwa uwela kulolu hlobo.

Iyini imbangela yesifo sika-Alexander?

Ezimweni ezingama-95% zesifo sika-Alexander, kwenzeka uguquko ku-gene . Le gene isiza ekwakheni iphrotheni ebizwa ngokuthi i-Glial Fibrillary Acid Protein (GFAP) . Ngeshwa, imbangela yamacala asele angu-5% ayaziwa.

Ngokuvamile, la maprotheni e-GFAP ayahlangana ukuze akhe amaketanga amade (ama-filaments). La maketanga anikeza amandla nokusekela amaseli esimiso sethu sezinzwa.

Kodwa-ke, kubantu abanesifo i-Alexander, le phrotheni ye-GFAP ayikhiqizwa kahle. Esikhundleni salokho, amaqoqo amaprotheni angajwayelekile abizwa ngokuthi ama-Rosenthal fibers aqoqana ezindaweni ezingaphakathi kwamaseli lapho kungafanele khona. Lezi zinhlayiya ze-Rosenthal yizo ezilimaza i-myelin okukhulunywe ngayo ekuqaleni.

Ubani osengozini enkulu yokuthola lesi sifo?

Eqinisweni, noma ubani angasithola lesi sifo. Esikhathini esiningi, ushintsho lwezakhi zofuzo lwenzeka ngokungahleliwe, ngaphandle kwesizathu esibonakalayo. Akuvamile kakhulu ukuthi ingane ithole lolu shintsho lwezakhi zofuzo kubazali bayo. Lokhu kusho ukuthi abantu abaningi abanawo umlando womndeni walesi sifo.

Ziyini izimpawu zesifo sika-Alexander?

Izimpawu zalesi sifo zingahluka kumuntu nomuntu. Futhi, izimpawu ziyahlukahluka kuye ngobudala (uhlobo) isifo esiqala ngalo.

Izimpawu zokuzalwa kwengane:

Lezi zimpawu zibonakala phakathi nenyanga yokuqala yokuphila.

• I-Hydrocephalus: Lokhu kuwukunqwabelana koketshezi ebuchosheni bengane. Lokhu kungabangela ukuba ikhanda likhule.
• I-Megalencephaly: Ukukhula okungavamile kobuchopho nekhanda.
• Ukuquleka/Isithuthwane: Izimo ezivame ukufana nokuquleka.
• Ukuqaqamba: Ukuqina kwemisipha, ukuncipha kokuguquguquka.
• Ukulibaziseka kokukhula: Ukwehluleka kwengane ukukhula ngesivinini esifanele iminyaka. Isibonelo, amandla entamo, ukugingqika, nokuhlala phansi kungase kubambezeleke.
• Ukwehluleka ukukhula kahle noma ukukhuluphala kahle.

Izimpawu zezingane:

Lezi zimpawu zivame ukuqala ezinyangeni eziyisithupha zokuqala, kodwa ngezinye izikhathi zingaqala ezinyangeni ezingu-24, noma cishe eminyakeni emibili. Izimpawu zifana kakhulu nalezo ezibonakala esikhathini sokuzalwa.

Izimpawu zokuqala kwentsha:

Lezi zimpawu zivame ukuvela phakathi kweminyaka engu-4 nengu-10.

• Ubunzima bokugwinya nokukhuluma.
• I-Ataxia:Lokhu kubhekisela ezinkingeni zokulinganisela, ukuhambisana, kanye nokunyakaza, njengokungakwazi ukuhamba noma ukuba nobunzima bokubamba izinto.
• Izinkinga zemisipha: izinto ezifana nokuqina kwemisipha (ukuqaqamba), ubuhlungu bemisipha, ukuqaqamba kwemisipha.
• Ukuhlanza njalo.

Izimpawu zokuqala kwesifo kubantu abadala:

Lezi zimpawu zingavela noma nini lapho umuntu esemdala. Zivame ukufana nalezo ezibonakala ebuntwaneni, kodwa nokuthuthumela kungase kwenzeke. Ngezinye izikhathi lezi zimpawu zingafana nezezinye izimo, njengesifo sikaParkinson noma i-multiple sclerosis , ngakho-ke kubalulekile ukuthola ukuxilongwa okunembile.

Isifo sika-Alexander sitholakala kanjani?

Udokotela wakho uzoqala ngokuhlolisisa izimpawu zakho noma zengane yakho. Ngaphezu kwalokho, angenza nokuhlolwa okufana nalokhu:

• Ukuskena kwe-MRI - Magnetic Resonance Imaging): Lokhu kungabheka noma yiziphi izinguquko ebuchosheni. Ikakhulukazi, i-MRI ingabonisa izinguquko ezintweni ezimhlophe, njengezimpawu ze-Rosenthal fibers.
• Ukuhlolwa kofuzo: Lokhu ukuhlolwa kwegazi okungaqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-GFAP okubangela i-Alexander syndrome.

Siphathwa kanjani lesi sifo? Siphathwa kanjani?

Ngeshwa, akukabikho ikhambi lesifo sika-Alexander. Izindlela zokwelapha zamanje zihlose kakhulu ukulawula izimpawu kanye nokunciphisa ukuqhubeka kwalesi sifo .

Kodwa-ke, ososayensi bayaqhubeka nokwenza izivivinyo zemitholampilo ukuthola izindlela ezintsha zokwelapha lesi sifo. Ungakhuluma nodokotela wakho mayelana nokuthi lolu hlobo lwesivivinyo lukulungele yini wena noma ingane yakho.

Kuye ngezimpawu, ukwelashwa okulandelayo kungasetshenziswa:

• Imithi yokulwa nokuquleka.
• Ukwelashwa ngokomzimba, ukwelashwa emsebenzini, kanye nokwelashwa ngenkulumo. Lokhu kusiza ekuthuthukiseni ukunyakaza kwengane, ikhono lokwenza imisebenzi yansuku zonke, kanye nokukhuluma.
• Uma kwenzeka i-hydrocephalus, isimo lapho uketshezi luqongelela khona ebuchosheni, ukuhlinzwa kwe-shunt kungenziwa. Lokhu kususa uketshezi oluningi ebuchosheni.

Yiziphi izinkinga zesifo sika-Alexander?

Izimpawu ze-Alexander syndrome zingase ziwohloke kancane kancane ngokuhamba kwesikhathi. Ngakho-ke, isiguli singadinga izinto ezifana nalezi:

• Amadivayisi asiza ngokuhamba, njengezihlalo zabakhubazekile noma izinqola zokuhamba.
• Ukuze uthole ukudla okwanele, ukudla ngepayipi ( ukudla okunomsoco ) kungadingeka.

Liyini ikusasa (isibikezelo) kubantu abanalesi sifo?

Ukubikezela ikusasa labantu abane-Alexander syndrome kuyinkimbinkimbi kancane, njengoba kuyahlukahluka kumuntu nomuntu . Njengoba lesi sifo siqhubeka, izimpawu zingaba zimbi kakhulu ngokuhamba kwesikhathi, ikakhulukazi ezinganeni. Uhlobo kanye nobude bezimpawu kuyahlukahluka kuye ngohlobo lwesifo:

• Izingane ezinesimo sokuzalwa ezisanda kuzalwa zivame ukukhubazeka kakhulu, futhi eziningi ziyafa zingakafiki eminyakeni emibili .
• Izingane ezinalolu hlobo lwezingane zingaphila iminyaka emihlanu kuya kweyishumi .
• Izingane ezinesifo sofuba esingamahlalakhona ngezinye izikhathi zingaphila zize zibe neminyaka engama-30 noma engama-40 .
• Abanye abantu abanesifo sokuqala kwasebudaleni banezimpawu ezincane kakhulu, noma bangase bangabi nazimpawu. Ezimweni eziningi, lesi sifo asithinti isikhathi sabo sokuphila.

Kuvamile ukuzizwa udangele uma uzwa lezi zinto. Kodwa ukwazi lolu lwazi kuzokusiza ukuthi uqonde lesi sifo.

Ingabe isifo sika-Alexander singavinjelwa?

Ezimweni eziningi, ngisho nochwepheshe abakwazi ukusho ngqo ukuthi kungani kwenzeka ushintsho lwezakhi zofuzo olubangela i-Alexander syndrome. Ngakho-ke, ezimweni eziningi, ayikho indlela yokuvimbela lesi sifo.

Kodwa-ke, uma othile emndenini wakho enesifo sika-Alexander noma olunye uhlobo lwe-leukodystrophy, kungumqondo omuhle ukukhuluma nomeluleki wezakhi zofuzo . Lokhu kuzokusiza uqonde ingozi yokuthi izingane zakho zesikhathi esizayo zizuze lesi sifo njengefa. Ungase futhi ufune ukucabangela inqubo ebizwa ngokuthi i-Preimplantation Genetic Diagnosis (PGD) . Lokhu kuhilela ukukhetha ama-embryo anempilo angenayo i-GFAP gene mutation ebangela isifo sika-Alexander bese efakwa esibelethweni ngokufakwa kwe-in vitro fertilization (IVF) .

Ngingayibona nini udokotela?

Uma wena noma ingane yakho ninesifo sika-Alexander, xhumana nodokotela ngokushesha uma nibona noma yiziphi zalezi zimpawu:

• Ubunzima ngokulinganisela noma ukuhamba.
• Ubunzima bokuphefumula, ukugwinya, ukudla, noma ukukhuluma.
• Isicanucanu nokuhlanza.
• Ukuquleka.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ungabuza udokotela imibuzo efana nale:

• Uhlobo luni lwesifo sika-Alexander enginaso (noma ingane yami)?
• Yikuphi ukwelashwa okungcono kakhulu?
• Ingabe kuwumqondo omuhle ukuthola ukuhlolwa kofuzo kwe-Alexander syndrome kwamanye amalungu omndeni?
• Yiziphi izimpawu zezinkinga okufanele ngiziqaphele?

Ekugcineni, umyalezo okufanele uwuthathe uye nawo ekhaya

Isifo sika-Alexander siyindlela yokuphila yonke, eqhubekayoIsimo sezokwelapha. Lokhu akuvamile kakhulu futhi ngezinye izikhathi kungavela emindenini. Ukuhlolwa kwezakhi zofuzo kungakhomba ukuhlukahluka kwezakhi zofuzo okubangela lesi sifo.

Nakuba kungekho ikhambi, kunezindlela zokwelapha ezingasiza ekunciphiseni izimpawu futhi zithuthukise ikhwalithi yokuphila. Ososayensi bayaqhubeka nokucwaninga ukuthola izindlela zokwelapha ezingcono zalesi sifo esingavamile.

Ngiyethemba ukuthi ukwazi lolu lwazi kuzokusiza ukuthi uqonde lesi sifo futhi ufune iseluleko sezokwelapha ngokushesha uma kudingeka. Khumbula njalo, awuwedwa, futhi ungathola usizo oludingayo.

Isifo sika - Alexander, Isifo Sezinzwa, Isifo Sofuzo, I-Myelin, I-Leukodystrophy, Isifo Sezingane