Ngaba uyayazi i-Alexander Disease? Makhe sithethe ngale meko ingaqhelekanga!

Ngaba wakha weva ngesifo sika-Alexander? Mhlawumbi awukaze uve ngaso. Isizathu kukuba sisifo semithambo-luvo esingaqhelekanga kakhulu emhlabeni. Kodwa, kufanelekile ukuba nolwazi oluthile ngezifo ezinje, akunjalo? Ingakumbi kuba sisoloko sixhalabile ngempilo nophuhliso lwabantwana bethu, kubalulekile ukuba siqaphele izinto ezinje.

Yintoni isifo sika-Alexander? Masiyiqonde ngokulula!

Kulungile, masibone ukuba yintoni i-Alexander Disease. Ngamafutshane, sisifo esichaphazela inkqubo yethu yemithambo-luvo, inkqubo ethwala imiyalezo emzimbeni wonke . Ngokukodwa, ichaphazela "into emhlophe" engqondweni yethu. Le nto emhlophe yinxalenye yengqondo eyenziwe ziintambo ezininzi zemithambo-luvo.

Esi sifo sikwiqela lezifo ezibizwa ngokuba yi -leukodystrophy . Nangona eli gama lisenokuvakala liyinkimbinkimbi, libhekisa kwizifo ezonakalisa ulwelo olumhlophe lobuchopho.

Kwisifo sika-Alexander, umonakalo omkhulu ukwinxalenye ebizwa ngokuba yi-myelin . I-Myelin sisigqubuthelo esikhuselayo esijikeleze imicu yemithambo-luvo yethu. Cinga ngayo njengesigqubuthelo seplastiki esijikeleze ucingo lombane. Esi sigqubuthelo se-myelin sivumela imiyalezo yemithambo-luvo ukuba ihambe kakuhle nangokukhawuleza. Ngoko ke, xa le myelin yonakele, inkqubo yokudluliselwa kwemiyalezo yemithambo-luvo iyaphazamiseka.

Ngenxa yoko, umntu one-Alexander syndrome unokufumana iingxaki ezahlukeneyo, ezinje ngokulibaziseka kokukhula kunye nokuxhuzula . Ngelishwa, esi sifo sisifo esiqhubekayo, ngamanye amaxesha esisongela ubomi. Okwangoku akukho nyango lwaso.

Ixhaphake kangakanani le sifo?

Isifo sika-Alexander sisifo esingaqhelekanga kakhulu . Kuqikelelwa ukuba esi sifo senzeka kumntu omnye kwabayisigidi abazalwayo . Esi sifo saqala ukuchongwa ngo-1949 nguGqr. W. Stewart Alexander , ugqirha wase-Australia. Yiyo loo nto sibizwa ngokuba sisifo sika-Alexander.

Ngaba kukho iintlobo zesifo sika-Alexander?

Ewe, oogqirha bahlula esi sifo ngokweminyaka apho iimpawu ziqala ukubonakala khona. Kukho iintlobo ezininzi eziphambili:

• Uhlobo lwe-Neonatal: Oku kunqabile kakhulu. Iimpawu zibonakala kwinyanga yokuqala yobomi.
• Uhlobo lweentsana: Olu hlobo lubangela malunga ne-80% yesifo sika-Alexander. Iimpawu zihlala ziqala ngaphambi kokuba zibe neminyaka emi-2 ubudala .
• Uhlobo lolutsha: Iimpawu zinokubonakala phakathi kweminyaka emi-2 neli-13 ubudala. Nangona kunjalo, zixhaphake kakhulu phakathi kweminyaka emi-4 neli-10 ubudala. Malunga ne-14% yazo zonke izifo ezifunyanisiweyoIngolu hlobo.
• Uhlobo lwabantu abadala: Oku nako akuqhelekanga kangako. Iimpawu zihlala zincinci. Le meko inokuvela nakweyiphi na iminyaka emva kokufikisa . Malunga ne-6% yezifo ezifunyanisiweyo ziwela kolu hlobo.

Yintoni ebangela isifo sika-Alexander?

Kwi-95% yamatyala esifo sika-Alexander, utshintsho lwenzeka kwi-gene . Le gene inceda ekwenzeni iproteni ebizwa ngokuba yi -Glial Fibrillary Acid Protein (GFAP) . Ngelishwa, imbangela ye-5% eseleyo yamatyala ayaziwa.

Ngokwesiqhelo, ezi proteni ze-GFAP ziyadibana ukuze zenze imixokelelwane emide (iifilaments). Ezi mixokelelwane zinika amandla kunye nenkxaso kwiiseli zenkqubo yethu yemithambo-luvo.

Nangona kunjalo, kubantu abanesifo sika-Alexander, le protein ye-GFAP ayiveliswanga kakuhle. Endaweni yoko, ii-protein clumps ezingaqhelekanga ezibizwa ngokuba yi-Rosenthal fibers ziqokelelana kwiindawo ezingaphakathi kweeseli apho zingafanele zibe khona. Ezi fibre zeRosenthal zizo ezonakalisa i-myelin ekhankanyiweyo ngaphambili.

Ngubani osengozini enkulu yokuhlaselwa sesi sifo?

Enyanisweni, nabani na angasifumana esi sifo. Uninzi lwexesha, utshintsho lwezakhi zofuzo lwenzeka ngengozi, ngaphandle kwesizathu esicacileyo. Kunqabile kakhulu ukuba umntwana afumane olu tshintsho lwezakhi zofuzo kubazali bakhe. Oku kuthetha ukuba uninzi lwabantu alunalo imbali yosapho yesi sifo.

Zithini iimpawu zesifo sika-Alexander?

Iimpawu zesi sifo zingahluka kumntu nomntu. Kwakhona, iimpawu ziyahluka ngokuxhomekeke kwiminyaka (uhlobo) esiqala ngayo esi sifo.

Iimpawu zosana olusandul’ ukuzalwa:

Ezi mpawu zibonakala kwinyanga yokuqala yobomi.

• I-Hydrocephalus: Oku kukuqokelelana kolwelo engqondweni yomntwana. Oku kunokubangela ukuba intloko ikhule.
• I-Megalencephaly: Ukwanda okungaqhelekanga kwengqondo nentloko.
• Ukuxhuzula/Ukuxhuzula: Iimeko ezixhaphakileyo ezifana nokuxhuzula.
• Ukuqaqamba kwemisipha: Ukuqina kwemisipha, ukuncipha kokuguquguquka.
• Ukulibaziseka kokukhula: Ukungaphumeleli komntwana ukukhula ngesantya esifanelekileyo ngokweminyaka. Umzekelo, amandla entamo, ukuqengqeleka, nokuhlala phantsi kunokulibaziseka.
• Ukungakwazi ukukhula kakuhle okanye ukutyeba ngokufanelekileyo.

Iimpawu zosana:

Ezi mpawu zihlala ziqala kwiinyanga ezintandathu zokuqala, kodwa ngamanye amaxesha zinokuqala emva kweenyanga ezingama-24, okanye malunga neminyaka emibini. Iimpawu zifana kakhulu nezo zibonakala kwithuba losana olusandul’ ukuzalwa.

Iimpawu zokuqala kolutsha:

Ezi mpawu zihlala zibonakala phakathi kweminyaka emi-4 neli-10 ubudala.

• Ubunzima bokuginya nokuthetha.
• I-Ataxia:Oku kubhekisa kwiingxaki zokulinganisela, ukulungelelanisa, kunye nokuhamba, njengokungakwazi ukuhamba okanye ukuba nobunzima bokubamba izinto.
• Iingxaki zemisipha: izinto ezinje ngokuqina kwemisipha (ukuqaqamba), iintlungu zemisipha, ukuqaqamba kwemisipha.
• Ukuhlanza rhoqo.

Iimpawu zokuqala komntu omdala:

Ezi mpawu zinokubonakala nangaliphi na ixesha xa umntu emdala. Zidla ngokufana nezo zibonwa ebuntwaneni, kodwa nokungcangcazela kunokubakho. Ngamanye amaxesha ezi mpawu zinokufana nezezinye iimeko, ezifana nesifo sikaParkinson okanye isifo se-multiple sclerosis , ngoko ke kubalulekile ukufumana uxilongo oluchanekileyo.

Isifo sika-Alexander sifunyanwa njani?

Ugqirha wakho uza kuqala akuhlole ngononophelo iimpawu zakho okanye zomntwana wakho. Ukongeza, banokwenza uvavanyo olufana nolu:

• I-MRI scan (MRI - Magnetic Resonance Imaging): Oku kunokujonga naluphi na utshintsho engqondweni. Ngokukodwa, i-MRI inokubonisa utshintsho kwi-white matter, njengeempawu ze-Rosenthal fibers.
• Uvavanyo lwemfuza: Olu luvavanyo lwegazi olunokuqinisekisa ukuba kukho utshintsho kwi-gene ye-GFAP olubangela i-Alexander syndrome.

Sinyangwa njani esi sifo? Siphathwa njani?

Ngelishwa, akukho nyango lwesifo sika-Alexander. Unyango lwangoku lujolise kakhulu ekulawuleni iimpawu kunye nokucothisa ukuqhubela phambili kwesi sifo .

Nangona kunjalo, izazinzulu ziyaqhubeka nokwenza uvavanyo lweklinikhi ukuze zifumane unyango olutsha lwesi sifo. Ungathetha nogqirha wakho malunga nokuba olu hlobo lovavanyo lufanelekile na kuwe okanye kumntwana wakho.

Ngokuxhomekeke kwiimpawu, ezi ndlela zonyango zilandelayo zingasetyenziswa:

• Amayeza okulwa nokuxhuzula.
• Unyango lomzimba, unyango lomsebenzi, kunye nonyango lokuthetha. Ezi zinto zinceda ekuphuculeni intshukumo yomntwana, amandla okwenza imisebenzi yemihla ngemihla, kunye nokuthetha.
• Kwi-hydrocephalus, imeko apho ulwelo luqokelelana engqondweni, utyando lwe-shunt lunokwenziwa. Oku kususa ulwelo olugqithisileyo engqondweni.

Ziziphi iingxaki zesifo sika-Alexander?

Iimpawu ze-Alexander syndrome zinokuba mandundu kancinci kancinci ngokuhamba kwexesha. Ngoko ke, isigulana sinokufuna izinto ezifana nezi:

• Izixhobo ezinceda ekuhambeni, ezifana nezitulo ezinamavili okanye izixhobo zokuhamba.
• Ukuze ufumane isondlo esaneleyo, ukondla umntwana ngetyhubhu ( isondlo sokutya ngaphakathi ) kunokufuneka.

Liyintoni ikamva (uqikelelo) lwabantu abanesi sifo?

Ukuqikelela ikamva labantu abane-Alexander syndrome kunzima kancinci, njengoko kuyahlukahluka kumntu nomntu . Njengoko isifo siqhubeka, iimpawu zinokuba mandundu ngokuhamba kwexesha, ingakumbi ebantwaneni. Uhlobo kunye nobude beempawu ziyahluka ngokuxhomekeke kuhlobo lwesifo:

• Iintsana ezinesimo sokuzalwa zidla ngokukhubazeka kakhulu, kwaye uninzi lwazo lufa ngaphambi kokuba zibe neminyaka emibini .
• Abantwana abanohlobo losana banokuphila iminyaka emihlanu ukuya kwelishumi .
• Abantwana abanesifo solusu olufana nolutsha ngamanye amaxesha banokuphila bade bafikelele kwiminyaka yabo engama-30 okanye engama-40 .
• Abanye abantu abanesifo sokuqalisa ukuba sesikhulile baneempawu ezincinci kakhulu, okanye basenokungabi nazimpawu. Kwiimeko ezininzi, esi sifo asiyichaphazeli indlela abaphila ngayo ubomi babo.

Kuqhelekile ukuba buhlungu xa usiva ezi zinto. Kodwa ukwazi olu lwazi kuya kukunceda usiqonde esi sifo.

Ngaba isifo sika-Alexander singathintelwa?

Kwiimeko ezininzi, neengcali azikwazi ukuxela ngqo ukuba kutheni utshintsho lwezakhi zofuzo olubangela i-Alexander syndrome lwenzeka. Ke ngoko, kwiimeko ezininzi, akukho ndlela yokuthintela esi sifo.

Nangona kunjalo, ukuba kukho umntu kusapho lwakho onesifo sika-Alexander okanye olunye uhlobo lwe-leukodystrophy, kulungile ukuthetha nomcebisi wezemfuza . Oku kuya kukunceda uqonde umngcipheko wokuba abantwana bakho abazayo bafumane esi sifo njengelifa. Ungacinga kwakhona ngenkqubo ebizwa ngokuba yi -Preimplantation Genetic Diagnosis (PGD) . Oku kubandakanya ukukhetha ii-embryos eziphilileyo ezingenayo i-GFAP gene mutation ebangela isifo sika-Alexander kwaye uzifake kwisibeleko nge -in vitro fertilization (IVF) .

Ndifanele ndibonane nogqirha nini?

Ukuba wena okanye umntwana wakho unesifo sika-Alexander, bonana nogqirha ngokukhawuleza ukuba ufumana naziphi na kwezi mpawu:

• Ubunzima bokulinganisela okanye ukuhamba.
• Ubunzima bokuphefumla, ukuginya, ukutya, okanye ukuthetha.
• Isicaphucaphu nokuhlanza.
• Ukuxhuzula.

Ndingayibuza yiphi imibuzo ugqirha wam?

Ungabuza ugqirha imibuzo efana nale:

• Loluphi uhlobo lwesifo sika-Alexander endinaso (okanye umntwana wam)?
• Yeyiphi eyona ndlela ilungileyo yonyango?
• Ingaba yinto elungileyo na ukufumana uvavanyo lwemfuza lwe-Alexander syndrome kwamanye amalungu osapho?
• Zeziphi iimpawu zeengxaki ekufuneka ndiziqaphele?

Okokugqibela, umyalezo oya ekhaya

Isifo sika-Alexander sisifo esiqhubekayo, esiqhubekayo ubomi bonkeIngxaki yempilo. Oku kunqabile kakhulu kwaye ngamanye amaxesha kuyenzeka kwiintsapho. Uvavanyo lwemfuza lunokuchonga umahluko wemfuza obangela esi sifo.

Nangona kungekho nyango, kukho unyango olunokunceda ekunciphiseni iimpawu nokuphucula umgangatho wobomi. Izazinzulu ziyaqhubeka nophando ukuze zifumane unyango olungcono lwesi sifo singaqhelekanga.

Ndiyathemba ukuba ukwazi olu lwazi kuya kukunceda usiqonde esi sifo kwaye ufumane ingcebiso kagqirha ngokukhawuleza ukuba kuyimfuneko. Hlala ukhumbula, awuwedwa, kwaye ungafumana uncedo olufunayo.

Isifo sika - Alexander, Isifo se-Neurological, Isifo se-Genetic, i-Myelin, i-Leukodystrophy, Isifo sabantwana