Ataxia - telangiectasia

Ataxia-telangiectasia chirwere chisingawanzoitika chehucheche. Inobata huropi uye zvimwe zvikamu zvemuviri.

Ataxia inoreva mafambiro asina kubatana, sekufamba. Telangiectasias inowedzera mitsipa yeropa (capillaries) pazasi pechiso cheganda. Telangiectasias inoita kunge diki, tsvuku, tsinga-dzakaita setsinga.

Ataxia-telangiectasia inogarwa nhaka. Izvi zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Iyo autosomal yakawandisa hunhu. Vabereki vese vanofanirwa kupa kopi yemajini asiri kushanda kuti mwana ave nezviratidzo zvechirwere.

Chirwere chinoguma nekuchinja mune ATM geni. Iri geni rinopa mirairo yekugadzira puroteni inobatsira kudzora mwero uyo masero anokura nekukamurana. Kukanganisa mune iri geni kunogona kutungamira kune asina kujairika maseru kufa kutenderedza muviri, kusanganisira chikamu chehuropi chinobatsira kurongedza kufamba.

Vakomana nevasikana vanobatwa zvakaenzana.

Zviratidzo zvinosanganisira:

• Kuderedza kufambiswa kwemafambiro (ataxia) mukupedzisira kwehudiki kunogona kusanganisira ataxic gait (cerebellar ataxia), jerky gait, kusagadzikana.
• Kuderedza kukura kwepfungwa, kunonoka kana kumira mushure memakore gumi kusvika gumi nemaviri
• Kunonoka kufamba
• Kushongedzwa kwenzvimbo dzeganda dzakaratidzwa kuzuva
• Kubviswa kweganda (kofi-ine-mukaka-mavara mavara)
• Yakawedzera tsinga dzeropa muganda remhino, nzeve, uye mukati megokora nemabvi
• Yakawedzera tsinga dzeropa mune akachena eziso
• Jerky kana asina kujairika kufamba kweziso (nystagmus) kunonoka kuchirwere
• Nguva isati yakura kuchena kwebvudzi
• Kufenda
• Kunzwisisa kune radiation, kusanganisira x-ray
• Zvirwere zvakanyanya zvekufema zvinoramba zvichidzoka (zvinodzokororwa)

Anopa hutano anoita bvunzo dzepanyama. Iyo bvunzo inogona kuratidza zviratidzo zveinotevera:

• Tonsils, lymph node, uye spleen pazasi peyakajairwa saizi
• Kuderera kwekusavapo kwakadzika kwetendon reflexes
• Kunonoka kana kusavapo kukura panyama uye pabonde
• Kukura kutadza
• Mask-yakafanana nechiso
• Kuwanda kweganda coloring uye maratidziro shanduko

Bvunzo dzinogona kuitika dzinosanganisira:

• Alpha fetoprotein
• B uye T cell screen
• Carcinoembryonic antigen
• Genetic kuyedza kutsvaga shanduko muATM gene
• Glucose kubvumidza bvunzo
• Serum immunoglobulin mazinga (IgE, IgA)
• X-ray kutarisa kukura kweiyo thymus gland

Iko hakuna chaiwo kurapwa kweataxia-telangiectasia. Kurapa kunoendeswa kune chaiwo zviratidzo.

Ataxia Telangiectasia Vana Chirongwa: www.atcp.org

National Ataxia Foundation (NAF): ataxia.org

Kufa kwekutanga kwakajairika, asi tarisiro yehupenyu inosiyana.

Nekuti vanhu vane chirwere ichi vane hanya nemwaranzi, havafanirwe kupihwa radiation radiation, uye hapana x-ray isingakoshi inofanirwa kuitwa.

Zvinetso zvinogona kusanganisira:

• Kenza, senge lymphoma
• Chirwere cheshuga
• Kyphosis
• Kufambira mberi kwekufamba kusagadzikana kunotungamira mukushandisa wiricheya
• Scoliosis
• Yakakura, inowanzoitika hutachiona hutachiona

Fonera wako mupi kana mwana wako achiva nezviratidzo zvechirwere ichi.

Vakaroorana vane nhoroondo yemhuri yeichi chiitiko vari kufunga nezvepamuviri vanogona kufunga nezvemajini ekupa mazano

Vabereki vemwana ane chirwere ichi vanogona kunge vaine hushoma hunowedzera njodzi yekenza. Ivo vanofanirwa kuve neijenasi kuraira uye kuwedzera kenza kuongororwa.

Louis-Bar chirwere

• Antibodies
• Telangiectasia

Gatti R, Perlman S. Ataxia-telangiectasia. GeneReviews. PMID: 20301790 www.ncbi.nlm.nih.gov/pubmed/20301790. Yakagadziridzwa Gumiguru 27, 2016. Yakasvika muna Chikunguru 30, 2019.

Martin KL. Vascular kusagadzikana.Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsamba 669.

Varma R, Williams SD. Neurology. Mune: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli naDavis 'Atlas yePediatric Kuziva. 7th ed. Philadelphia, PA: Elsevier; 2018: chits.