Adrenoleukodystrophy: yintoni, iimpawu kunye nonyango

Umxholo

• Iimpawu adrenoleukodystrophy
• Unyango lwenziwa njani

I-Adrenoleukodystrophy sisifo esingaqhelekanga semfuza esidityaniswe ne-X chromosome, apho kukho ukungonelanga kwe-adrenal kunye nokuqokelela kwezinto emzimbeni ezikhuthaza ukudanjiswa kwe-axon, eyinxalenye ye-neuron enoxanduva lokuqhuba imiqondiso yombane, kwaye inokuthi ibandakanyeke intetho, umbono okanye ukuncipha kunye nokuphumla kwezihlunu, umzekelo.

Ke, njengakwi-adrenoleukodystrophy, ukubonakaliswa luvalo kungaphazamiseka, kunokwenzeka ukuba iimpawu kunye neempawu ezinxulumene nale meko zinokuvela ngokuhamba kwexesha, notshintsho kwintetho, ubunzima ekuginyeni nasekuhambeni, kunye notshintsho kwindlela yokuziphatha, umzekelo.

Esi sifo sixhaphake emadodeni, kuba amadoda ane-1 X ye-chromosome kuphela, ngelixa abafazi kufuneka bobabini bechromosomes batshintshe esi sifo. Ukongeza, iimpawu kunye neempawu zinokubonakaliswa nakweyiphi na iminyaka, kuxhomekeke kubunzulu botshintsho lwemfuza kunye nesantya apho kutshatyalaliswa.

Iimpawu adrenoleukodystrophy

Iimpawu ze-adrenoleukodystrophy zinxulumene notshintsho ekusebenzeni kwamadlala e-adrenal kunye nokudilizwa kwe-axon. Amadlala adrenal abekwe ngaphezulu kwezintso kwaye zinxulumene nemveliso yezinto ezinceda ukulawula inkqubo ye-autonomic system, ekhuthaza ukulawulwa kweminye imisebenzi yomzimba, njengokuphefumla kunye nokwetyisa, umzekelo. Ke ngoko, xa kukho ukungasebenzi kakuhle okanye ukulahleka komsebenzi we-adrenal, utshintsho kwinkqubo yeemvakalelo luyabonakala.

Ukongeza, ngenxa yokutshintsha kwemfuza, kunokwenzeka ukuba kuqokelele izinto eziyityhefu emzimbeni, ezinokubangela ukulahleka kwe-myelin sheath ye-axon, ukuthintela ukuhanjiswa kweempawu zombane kunye neziphumo zeempawu ze-adrenoleukodystrophy.

Ke, iimpawu ze-adrenoleukodystrophy zibonwa njengokuba umntu ekhula kwaye enokuqinisekiswa:

• Ukuphulukana nomsebenzi we-adrenal gland;
• Ukuphulukana nokukwazi ukuthetha nokunxibelelana;
• Utshintsho kwindlela yokuziphatha;
• IStrabismus;
• Ubunzima bokuhamba;
• Ubunzima ekondleni, kwaye ukondla ngetyhubhu kunokuba yimfuneko;
• Kunzima ukugwinya;
• Ukuphulukana nobuchule bokuqonda;
• Ukuxhuzula.

Kubalulekile ukuba i-adrenoleukodystrophy ichongwe kanye ngexesha lokuzalwa, njengoko kunokwenzeka ukunciphisa isantya apho kuvela khona iimpawu, ukukhuthaza umgangatho wobomi bosana.

Unyango lwenziwa njani

Unyango lwe-adrenoleukodystrophy kukukhutshwa komongo wethambo, okucetyiswayo xa iimpawu sele zihambile kakhulu kwaye kukho utshintsho olukhulu kubuchopho. Kwiimeko ezinzima, ugqirha unokucebisa ukuba ubeke endaweni yehomoni eveliswe ngamadlala e-adrenal, ukongeza kunyango lomzimba ukukhusela i-atrophy yemisipha.