Adrenoleukodystrophy: kuyini, izimpawu kanye nokwelashwa

-Delile

• Izimpawu ze-adrenoleukodystrophy
• Yelashwa kanjani

I-Adrenoleukodystrophy isifo esingajwayelekile sezakhi zofuzo esixhunyaniswe ne-X chromosome, lapho kunokuntuleka kwe-adrenal nokuqongelela kwezinto emzimbeni okukhuthaza ukususwa kwama-axon, okuyingxenye ye-neuron ebhekele ukwenza amasiginali kagesi, futhi okungenzeka ukuthi iyabandakanyeka inkulumo, umbono noma ukusikwa nokuphumula kwemisipha, isibonelo.

Ngakho-ke, njengakwi-adrenoleukodystrophy, ukusayina kwemizwa kungakhubazeka, kungenzeka ukuthi izimpawu nezimpawu ezihlobene nalesi simo zingavela ngokuhamba kwesikhathi, kube nezinguquko enkulumweni, ubunzima ekugwinyeni nasekuhambeni, ngokwesibonelo.

Lesi sifo sivame kakhulu emadodeni, ngoba amadoda ane-1 X chromosome kuphela, kuyilapho abesifazane kufanele bashintshe ama-chromosome womabili ukuze babe nalesi sifo. Ngaphezu kwalokho, izimpawu nezimpawu zingabonakala kunoma yimuphi unyaka, kuya ngokuqina koshintsho lwezakhi zofuzo kanye nejubane okwenzeka ngalo ukususa amandla emzimbeni.

Izimpawu ze-adrenoleukodystrophy

Izimpawu ze-adrenoleukodystrophy zihlobene nezinguquko ekusebenzeni kwezindlala ze-adrenal kanye nokudonswa kwama-axon. Izindlala ze-adrenal zitholakala ngaphezu kwezinso futhi zihlobene nokukhiqizwa kwezinto ezisiza ukulawula uhlelo lwe-autonomic nervous, ukukhuthaza ukulawulwa kweminye imisebenzi yomzimba, njengokuphefumula nokugaya, isibonelo. Ngakho-ke, lapho kune-dysregulation noma ukulahleka komsebenzi we-adrenal, nezinguquko ohlelweni lwezinzwa nazo ziyabonakala.

Ngaphezu kwalokho, ngenxa yokuguqulwa kwezakhi zofuzo, kungenzeka ukuthi kunqwabelane izinto ezinobuthi emzimbeni, ezingadala ukulahleka komgodla we-myelin wama-axon, ukuvimbela ukudluliswa kwezimpawu zikagesi futhi kuholele kwizimpawu nezimpawu ze-adrenoleukodystrophy.

Ngakho-ke, izimpawu ze-adrenoleukodystrophy zibonakala njengoba umuntu ekhula futhi engaqinisekiswa:

• Ukulahlekelwa kwe-adrenal gland function;
• Ukulahlekelwa amandla okukhuluma nokuxhumana;
• Izinguquko zokuziphatha;
• Strabismus;
• Ubunzima bokuhamba;
• Kunzima ukondla, nokondla ngeshubhu;
• Kunzima ukugwinya;
• Ukulahleka kwamakhono okuqonda;
• Ukudlikizela.

Kubalulekile ukuthi i-adrenoleukodystrophy ikhonjwe ngqo lapho kuzalwa, njengoba kungenzeka ukunciphisa ijubane lapho kuvela khona izimpawu, kukhuthaza ikhwalithi yempilo yengane.

Yelashwa kanjani

Ukwelashwa kwe-adrenoleukodystrophy ukufakelwa umnkantsha wethambo, okunconywayo lapho izimpawu sezivele zithuthuke kakhulu futhi kunezinguquko ezinzima ebuchosheni. Ezimweni ezinzima, udokotela angancoma ukufaka esikhundleni samahomoni akhiqizwa yizindlala ze-adrenal, ngaphezu kokwelapha ngokomzimba ukuvimbela i-muscle atrophy.