Ataxia - telangiectasia

Ataxia-telangiectasia ndi matenda osowa aubwana. Zimakhudza ubongo ndi ziwalo zina za thupi.

Ataxia amatanthauza mayendedwe osagwirizana, monga kuyenda. Telangiectasias amakulitsa mitsempha yamagazi (ma capillaries) pansipa pamunsi pakhungu. Telangiectasias amawoneka ngati mitsempha yaying'ono, yofiira, ngati kangaude.

Ataxia-telangiectasia ndi cholowa. Izi zikutanthauza kuti imadutsa kudzera m'mabanja. Ndi mkhalidwe wama autosomal wambiri. Makolo onse ayenera kupereka jini losagwira ntchito kuti mwanayo akhale ndi zizindikilo za matendawa.

Matendawa amadza chifukwa cha kusintha kwa ATM jini. Jini imeneyi imapereka malangizo opangira mapuloteni omwe amathandizira kuwongolera momwe maselo amakulira ndikugawana. Zofooka zamtunduwu zimatha kubweretsa kufa kwama cell kuzungulira thupi, kuphatikiza gawo laubongo lomwe limathandizira kuyendetsa kayendedwe.

Anyamata ndi atsikana amakhudzidwa chimodzimodzi.

Zizindikiro zake ndi izi:

• Kuchepetsa kusunthika kwa kayendedwe (ataxia) kumapeto kwaubwana komwe kumatha kuphatikizira ataxic gait (cerebellar ataxia), jerky gait, kusakhazikika
• Kuchepetsa kukula kwamisala, kumachedwetsa kapena kuyima pambuyo pa zaka 10 mpaka 12
• Kuchedwa kuyenda
• Kukhazikika kwa madera akhungu owonekera ndi dzuwa
• Kutulutsa khungu (mawanga amtundu wa khofi ndi mkaka)
• Kukulitsa mitsempha yamagazi pakhungu la mphuno, makutu, komanso mkati mwa chigongono ndi bondo
• Kukulitsa mitsempha yamagazi m'mazungu oyera
• Kutuluka kwa maso kwa Jerky kapena kosazolowereka (nystagmus) mochedwa matendawa
• Kumeta msanga msanga
• Kugwidwa
• Kumverera kwa ma radiation, kuphatikizapo x-ray
• Matenda opuma opuma omwe amabwereranso (obwereza)

Wothandizira zaumoyo adzayesa. Mayesowa atha kuwonetsa izi:

• Matani, ma lymph node, ndi ndulu zosakwana kukula kwake
• Kuchepetsa kusakhalapo kwakanthawi kwamatenda
• Kuchedwa kapena kulibe kukula kwakuthupi komanso kwakugonana
• Kukula kulephera
• Nkhope ngati nkhope
• Mitundu yambiri ya khungu ndi mawonekedwe amasintha

Mayeso omwe angakhalepo ndi awa:

• Alpha fetoprotein
• Chophimba cha B ndi T
• Antigen ya Carcinoembryonic
• Kuyesera kwa majini kuti ayang'ane kusintha kwa mtundu wa ATM
• Mayeso a kulolerana kwa glucose
• Maselo a serum immunoglobulin (IgE, IgA)
• X-ray kuti ayang'ane kukula kwa thymus gland

Palibe mankhwala enieni a ataxia-telangiectasia. Chithandizo chamankhwala chimaperekedwa kuzizindikiro zenizeni.

Ntchito ya Ataxia Telangiectasia Children: www.atcp.org

National Ataxia Foundation (NAF): ataxia.org

Kumwalira msanga kumakhala kofala, koma zaka za moyo zimasiyanasiyana.

Chifukwa anthu omwe ali ndi vutoli amakhudzidwa kwambiri ndi ma radiation, sayenera kupatsidwa mankhwala a radiation, ndipo ma x-ray osafunika sayenera kuchitidwa.

Zovuta zingaphatikizepo:

• Khansa, monga lymphoma
• Matenda a shuga
• Katemera
• Matenda osunthika omwe amatsogolera ogwiritsa ntchito olumala
• Scoliosis
• Matenda owopsa, am'mapapo

Itanani omwe akukuthandizani ngati mwana wanu ali ndi matendawa.

Mabanja omwe ali ndi mbiri yakubadwa kwa omwe ali ndi pakati omwe angaganize zokhala ndi pakati atha kulangizidwa za majini.

Makolo a mwana yemwe ali ndi vutoli akhoza kukhala ndi chiopsezo chowonjezeka cha khansa. Ayenera kukhala ndi upangiri wa majini ndikuwunika zowunika za khansa.

Matenda a Louis-Bar

• Ma antibodies
• Telangiectasia

Gatti R, Perlman S. Ataxia-telangiectasia. Zowonjezera. 2016. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Idasinthidwa pa Okutobala 27, 2016. Idapezeka pa Julayi 30, 2019.

Martin KL. Matenda a mtima.Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 669.

Varma R, Williams SD. Neurology. Mu: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli ndi Davis ’Atlas of Pediatric Diagnosis. Wachisanu ndi chiwiri. Philadelphia, PA: Elsevier; 2018: mutu 16.