Ukugula okukhuselekileyo okuchaphazela abantwana
Isifo se-Batten sisifo esingaqabanga kakhulu nesifo esiyingozi esichaphazela inkqubo yesifo. Uninzi lwabantwana luqala ukubonisa iimpawu phakathi kweminyaka emihlanu ukuya kweyishumi ubudala, xa umntwana owayengumntwana ophilileyo angase aqale ukubonisa iimpawu zokuthintela okanye ukujonga imiba. Kwiimeko ezininzi, iimpawu zokuqala zibuqilima, ezifana nokuxhamla, ukukhubazeka kokufunda, kunye nokugqithisa umbono.
Uninzi lwabantu abanezifo zeBatten ziyafa ezintshatsheni okanye kwiminyaka elishumi.
Izifo zeBatten zizona ziqhelekileyo ze-liurusal cpoid lipofuscinoses (NCLs). Ekuqaleni, izifo zeBatten zazibhekwa njengeNCL yabantwana, kodwa kwiminyaka yamuva nje, oogqirha bezilwanyana baye basebenzisa isifo seBatten ukuchaza iziphumo ezininzi ze-NCL.
Izifo zeBatten ziqabile kakhulu. Kuqikelelwa ukuba kuthintela 1 kuzo zonke ii-50,000 zokuzalwa eMelika. Nangona iimeko zenzeka emhlabeni wonke, izifo zeBatten ziqheleke kwiindawo ezisenyakatho yeYurophu, njengeSweden okanye iFinland.
Isifo se-Batten sisifo se-autosomal disorder, esichazela ukuba senziwa kuphela kumntwana ukuba ngaba abazali bobabini baphatha i- jeni yesifo . Ukuba umntwana unomzali omnye nomthwalo, loo mntwana uthathwa njengomphathiswa kwaye angadlulisela umfuzo kumntwana wakhe, obangela isifo se-Batten ukuba iqabane lakhe liphethe imfuza.
Iimpawu
Njengoko i-disorder iqhubeka, ukulahleka kwemisipha, izicubu ezinzulu zobuchopho, i- atrophy ye-tissue tissues , ukulahleka kwamehlo kunye nokuphelelwa komzimba kwangaphambili.
Ukuxilongwa
Ngenxa yokuba iimpawu zokuqala zezifo zeBatten ziquka imboniselo, izifo zeBatten zihlala zikhankanywa kuqala ngexesha lokuhlolwa kwamehlo. Nangona kunjalo, ayikwazi ukufunyanwa ngokuhlolwa kwamehlo yedwa.
Izifo zeBatten zifunyaniswa ngokusekelwe kwiimpawu umntwana abhekene nazo. Abazali okanye abantwana besifo somntwana bangaqaphela ukuba umntwana uqalise ukuphuhlisa iingxaki zombono okanye ukuthatha .
Ucwaningo oluthile lwamagcini kwamehlo, impendulo ebonakalayo ebonakalayo okanye i-electroretinogram (ERG), inokwenziwa. Ukongezelela, iimvavanyo zokuxilonga ezifana ne-electroencephalogram (i-EEG, ukujonga umsebenzi wokuthumba) kunye nomfanekiso-mfanekiso we-magnesium resonance (MRI, ukukhangela utshintsho kwingqondo) inokwenziwa. Isampuli yesikhumba okanye izicubu (ezibizwa ngokuba yi- biopsy ) zingahlolwa phantsi kwe-microscope ukuba zikhangele i-lipofuscins.
Unyango
Akukho nonyango oluthile lusekhona ukunyanga okanye ukunciphisa ukuqhubela phambili kwezifo zeBatten, kodwa unyango lukhona ukulawula iimpawu kwaye lenze umntwana akhululeke. Ukuxhatshazwa kunokulawulwa ngamachiza okuxhatshazwayo , kunye nezinye iingxaki zonyango zinganyangwa njengoko zifunekayo. Uphulo lomzimba kunye nolwasemsebenzini lunokunceda isigulane sinamathele ekusebenzeni ngokomzimba ixesha elide kunokwenzeka ngaphambi kokuba i-musrotic atrophy.
Ezinye iingxelo zibonise ulwazi lwangaphambili ukuba i- Vitamin C ne-E inokunceda ukunciphisa eso sifo, nangona kungekho unyango oluye lwakwazi ukunqanda ukuba lubulawe.
Amacandelo enkxaso afana neCandelo leNkxaso ye-Batten ne-Research Association inike inkxaso kunye nolwazi malunga nophando kunye nophando. Ukudibana nezinye iindwendwe eziye zenzeke into efanayo okanye zihamba ngezigaba ezifanayo zinokuxhaswa kakhulu xa zijongana nezifo zeBatten.
Uphando lwezokwelapha luyaqhubeka lufunda ingxaki yokuthembela ngokuqinisekileyo unyango olululo kwixesha elizayo.
Imithombo:
"Batten Disease". Isiko seSizwe seNational Disorders and Stroke, ngo-2015.
"Yintoni i-Batten Disease?" I-Batten Disease Research and Support Association, 2015.