Ukugula Okudakayo Okuthinta Izingane
Isifo se-Batten yisifo esingavamile kakhulu futhi esibulalayo esithinta isimiso sezinzwa. Iningi lezingane liqala ukukhombisa izimpawu eziphakathi kweminyaka emihlanu kuya kweyishumi ubudala, lapho umntwana ophilile ngaphambili engase aqale ukukhombisa izimpawu zokuqothulwa noma imibono yombono. Ezimweni eziningi, izibonakaliso zokuqala zihlakaniphile kakhulu, ezifana nokuzikhukhumeza, ukukhubazeka kokufunda, nokwanda kombono.
Iningi labantu abanesifo seBatten bafa eminyakeni yabo yeshumi nambili noma ekuqaleni kwawo.
I-Batten isifo esivame kakhulu se-neuronal cpoid lipofuscinoses (i-NCLs). Ekuqaleni, izifo zeBatten zazibhekwa njenge-NCL yezingane, kodwa eminyakeni yamuva nje, odokotela bezingane basebenzise isifo se-Batten ukuchaza izimo eziningi ze-NCL.
Izifo ezithintekayo ziyinqaba kakhulu. Kulinganiselwa ukuthi kuthinta 1 kuzo zonke izingane zokuzalwa ezingu-50,000 e-United States. Ngesikhathi izimo zenzeka emhlabeni wonke, izifo ze-Batten zivame kakhulu kwezinye izingxenye zenyakatho yeYurophu, njengeSweden noma iFinland.
Isifo se-Batten yisifo esibucayi ngokweqile, okusho ukuthi kwenzeka kuphela enganeni uma bobabili abazali bephethe izakhi zofuzo zalesi sifo . Uma ingane inomzali oyedwa onesisindo, lo mntwana ubhekwa njengomthwali futhi angadlulisela isisu kumntanakhe, ebangela isifo se-Batten uma umlingani wakhe ethwala isakhi.
Izimpawu
Njengoba lesi sifo siphuthuka, ukulahleka kwemisipha, izicubu ezinzima zobuchopho, i- atrophy yezicubu zomzimba , ukulahlekelwa kwamehlo okuqhubekayo nokucindezeleka kwangempela .
Ukuxilongwa
Ngoba izibonakaliso zokuqala ze-Batten isifo ngokuvamile zibandakanya umbono, izifo ze-Batten zivame ukusola kuqala ngesikhathi sokuhlola iso. Kodwa-ke, ayikwazi ukutholakala ngokusebenzisa ukuhlola iso.
Isifo se-Batten sitholwa ngokusekelwe ezimpawu ezinganeni. Abazali noma ingane yengane yomntwana bangabona ukuthi ingane iqale ukuthuthukisa izinkinga zombono noma ukuhlukunyezwa .
Ucwaningo oluthile lwamagetsi lamehlo, impendulo ebonakalayo ebonakalayo noma i-electroretinogram (ERG), ingenziwa. Ngaphezu kwalokho, izivivinyo zokuxilonga ezifana ne-electroencephalogram (i-EEG, ukubheka umsebenzi wokuthunjwa) nokufaneka kwe-magnonence resonance (i-MRI, ukufuna izinguquko ebuchosheni) kungenzeka. Isampula yesikhumba noma izicubu (okuthiwa yi- biopsy ) ingahlolwa ngaphansi kwe-microscope ukuze ubheke i-lipofuscins eyakhiwe.
Ukwelapha
Akukho ukwelashwa okuqondile okwamanje okwamanje okutholakala ukuphulukisa noma ukunciphisa ukuqhubeka kwesifo seBatten, kodwa kukhona ukwelashwa ukuphatha izimpawu futhi kwenze ingane ikhululeke. Ukuhlukunyezwa kungalawulwa ngemithi ye-antiseizure , kanti nezinye izinkinga zezokwelapha zingelashwa njengoba kudingeka. Ukwelapha ngokomzimba nangokwenyama kungasiza isiguli ukuba sigxile ekusebenzeni ngokomzimba isikhathi eside ngangokunokwenzeka ngaphambi kwe-atrophy yemisipha.
Ucwaningo oluthile lubonise idatha yokuqala ukuthi ukulinganisa kwe- Vitamin C no-E kungasiza ekunciphiseni lesi sifo, nakuba kungekho ukwelashwa okuye kwakwazi ukuyeka ukubulala.
Amaqembu asekela njengeBatten Disease Support and Research Association ahlinzeka ukusekela kanye nokwaziswa ngezokwelapha kanye nocwaningo. Ukuhlangana neminye imindeni eye yaba nayo into efanayo noma ehamba ngezinyathelo ezifanayo kungaba usizo olukhulu ngenkathi ibhekene nesifo seBatten.
Ucwaningo lwezokwelapha luqhubeka luhlola lesi sifo sokuzethemba ukuthola izinkinga zokwelapha esikhathini esizayo.
Imithombo:
"Batten Disease". I-National Institute of Neurological Disorders and Stroke, 2015.
"Kuyini izifo zeBatten?" I-Batten Disease Research and Support Association, 2015.