Tay-Sachs chirwere

Tay-Sachs chirwere chinotyisidzira hupenyu chehurongwa hwemitsipa hwakapfuura kuburikidza nemhuri.

Chirwere cheTay-Sachs chinoitika apo muviri unoshaya hexosaminidase A. Iyi ipuroteni inobatsira kuputsa boka remakemikari anowanikwa mutsinga dzetsinga dzinonzi gangliosides. Pasina puroteni iyi, gangliosides, kunyanya ganglioside GM2, inovakwa mumasero, kazhinji masero etsinga muuropi.

Tay-Sachs chirwere chinokonzerwa neyakaremara geni pane chromosome 15. Kana vabereki vese vakatakura chakaremara Tay-Sachs gene, mwana ane 25% mukana wekukura chirwere. Mwana anofanirwa kugamuchira maviri makopi eiyo isina kukwana geni, imwe kubva kumubereki mumwe nemumwe, kuti arware. Kana chete mubereki mumwe chete achipfuudza chakaremara gene kumwana, mwana anonzi mutakuri. Ivo havazorwara, asi vanogona kupfuudza chirwere kuvana vavo chaivo.

Chero ani zvake anogona kuve mutakuri weTay-Sachs. Asi, chirwere ichi chinowanzoitika pakati pevaAshkenazi vechiJudha. Mumwe chete munhengo makumi maviri nenomwe dzevanhu anotakura Tay-Sachs gene.

Tay-Sachs akapatsanurwa kuita maficha, vechidiki, uye mafomu evakuru, zvinoenderana nezviratidzo uye pavanotanga kuoneka. Vazhinji vanhu vane Tay-Sachs vane fomu yehucheche. Mune fomu iyi, kukuvara kwetsinga kunowanzo kutanga mwana achiri mudumbu. Zviratidzo zvinowanzoonekwa kana mwana aine mwedzi mitatu kusvika kumwedzi mitanhatu. Chirwere ichi chinowedzera kukura nekukurumidza, uye mwana anowanzofa nezera rechina kana rechishanu.

Kunonoka-kutanga Tay-Sachs chirwere, icho chinokanganisa vanhu vakuru, chisingawanzoitika.

Zviratidzo zvinogona kusanganisira chero zvinotevera:

• Matsi
• Kuderera kwekutarisana kwemaziso, hupofu
• Yakadzikira tsandanyama toni (kurasikirwa kwesimba mhasuru), kurasikirwa nehunyanzvi hwemotokari, kuoma mitezo
• Inononoka kukura uye kunonoka kugona kwepfungwa uye kwehukama
• Dementia (kurasikirwa kwehuropi basa)
• Kuwedzera kushamisika kuita
• Kushatirwa
• Kusava nehanya
• Kufenda

Anopa hutano anoongorora mucheche obvunza nezve nhoroondo yemhuri yako. Miedzo inogona kuitwa ndeiyi:

• Enzyme bvunzo yeropa kana muviri munyama wehexosaminidase mazinga
• Kuongorora kwemaziso (kunoratidza nzvimbo yecheri-tsvuku mumacula)

Iko hakuna kurapwa kwechirwere cheTay-Sachs pachacho, chete nzira dzekuita kuti munhu anyanye kugadzikana.

Kushushikana kwekurwara kunogona kurerutswa nekujoinha mapoka ekutsigira ane nhengo dzinogovana zvakajairika matambudziko nematambudziko. Aya mapoka anotevera anogona kupa rumwe ruzivo nezve Tay-Sachs chirwere:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/tay-sachs-disease
• National Tay-Sachs uye Allied Zvirwere Association - www.ntsad.org
• NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/tay-sachs-disease

Vana vane chirwere ichi vane zviratidzo zvinowedzera kuwedzera nekufamba kwenguva. Vanowanzo kufa nezera rechina kana rechishanu.

Zviratidzo zvinowoneka mukati memwedzi yekutanga kusvika gumi yegumi yehupenyu uye kufambira mberi kusvika pakupenga, kubatwa, uye kurasikirwa kwekufamba kwekuzvidira.

Enda kuimba yekukurumidzira kana kufonera iyo yemuno emergency emergency (se911) kana:

• Mwana wako ane pfari yechikonzero chisingazivikanwe
• Kubatwa kwakasiyana nekumwe kubata kwakapfuura
• Mwana anonetseka kufema
• Kubata kunotora kupfuura maminetsi maviri kusvika matatu

Sheedza musangano pamwe nemupi wako kana mwana wako aine zvimwe zvinooneka maitiro ekuchinja.

Iko hakuna inozivikanwa nzira yekudzivirira iyi kusagadzikana. Kuongorora kweGenetic kunogona kuona kana iwe uri mutakuri wegene rechirwere ichi. Kana iwe kana mumwe wako muchibva kune vanhu vari panjodzi, mungangoda kutsvaga kwehungwaru usati watanga mhuri.

Kana iwe uchitova nepamuviri, kuyedza iyo amniotic fluid inogona kuongorora Tay-Sachs chirwere mudumbu.

GM2 gangliosidosis - Tay-Sachs; Lysosomal kuchengetedza chirwere - Tay-Sachs chirwere

• Central nervous system uye yekumusoro tsinga system

Kwon JM. Neurodegenerative kusagadzikana kwehucheche. Mune: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Chinyorwa chePediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016: chits. 599.

Nussbaum RL, McInnes RR, Willard HF. Iyo mamorekuru, emakemikari, uye maseru hwaro hwechirwere. Mune: Nussbaum RL, McInnes RR, Willard HF, eds. Thompson na Thompson Genetics muMushonga. 8th ed. Philadelphia, PA: Elsevier; 2016: chits.

Wapner RJ, Dugoff L. Prenatal kuongororwa kwehutano hwepamuviri. Mu: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Sirivha RM, eds. Creasy uye Resnik's Maternal-Fetal Mushonga: Misimboti uye Dzidzira. 8th ed. Philadelphia, PA: Elsevier; 2019: chitsuwa 32.