Genetic Causes of Hearing Loss

Genetics inobatsira zvikuru mukurasikirwa kwekunzwa uye kutsiva muvana vaviri nevakwegura. Inenge 60 kusvika ku80 muzana yekutsiva mucheche (kuberekwa matsi) inogona kuonekwa kune mamwe mararamiro.

Izvo zvinokwanisika kuva nekusanganiswa kwemazwi ekurasikirwa kwekunzwa nekuwana kurasikirwa kwekunzwa. Kuwana kurasikirwa kunzwa kunonzwa kurasikirwa kunowanzoitika nekuda kwechikonzero chezvakatipoteredza zvakadai semishonga zvinokonzerwa nemishonga kana kuiswa kumakemikari kana mhere.

Genetic Syndromes Iyo Chikonzero Chinonzwa Kurasika

Haasi yose yekuzvarwa kwekunzwa kurasikirwa kweropa, uye kwete yese yekurasikirwa kwekunzwa kweruzhinji kunovapo pakuberekwa. Kunyange zvazvo ruzhinji rwekurasikirwa kwekunzwa kusina kubatana nechirwere chakasiyana-siyana, zvirwere zvakawanda zvema genetic syndromes (zvichida zvinodarika 300) zvinosanganiswa nekurasikirwa kwekunzwa kunzwa, kusanganisira:

Non-Syndromic Causes of Genetic Hearing Loss

Apo kurasikirwa kwekunzwa kwekuzvarwa hakufambidzwi nemamwe matambudziko ehutano chaihwo inonzi "non-syndromic". Ruzhinji rwemazwi ekurasikirwa kwekunzwa kunowira munharaunda iyi.

Izvo-kusagadzikana kwekunzwa kurasikirwa kunowanzokonzerwa nemajene anowedzera.

Izvi zvinoreva kuti kana mumwe mubereki achipfuura jeni rinosanganiswa nekurasikirwa kwekunzwa, hazvizorevi kana kuti hazvizoitiki mumwana. Vabereki vose vari vaviri vanofanira kutora gorosi rakanyanya kumwana kuitira kuti kurasikirwa kwekunzwa kuvepo.

Kunyange zvazvo kurasikirwa kwekunzwa kwakabatana nejecha rejeni kungaita sokuti hazviiti kuitika, vanenge makumi manomwe kubva muzana matambudziko ekurasikirwa kwekunzwa isiri-syndromic uye 80 kubva kune zana kune avo vanonzwa kurasikirwa kwakakonzerwa nejeri rezvemagetsi. Izvo makumi maviri kubva muzana inosvika semugumisiro weiyo maitiro makuru, izvo zvinongoda chete geni kubva kune mumwe mubereki.

Ndezvipi Zvangu Zvokupa Zvokupa Zviratidzo Zvangu Mhedziso Yakaita Kuti Inzwe Kurasikirwa?

Kana uri kuongorora zvinyorwa zvechiremba wako, unogona kuwana mazita ausinganzwisisi.

Heino tsanangudzo yekuti kutadza kwekunzwa kwemashoko kusinganzwisisiki kungave kwakanyorerwa mune zvinyorwa zvechiremba:

  1. anonzi aine chirwere
    • ___- inoreva matsi (apo ___ ndiro rinokonzera matsi)
  2. anonzi geeni nzvimbo
    • DFN zvinongoreva matsi
    • Imwe nzira inoshandiswa kuitisa autosomal yakawanda
    • B zvinoreva kuzvidzora kwekuzvidzivirira
    • X inoreva X-yakabatanidzwa (yakapiwa kuburikidza nevabereki X chromosome)
    • imwe nhamba inomiririra kurongeka kwejeni kana yakarongwa kana kuti yakawanikwa

Semuenzaniso, kana chirwere chekunzwa chinonzi nejeni chaiyo nachiremba wako, unogona kuona chimwe chinhu chakafanana nekutaura kweTTOF-yakabatana. Izvi zvingareva kuti jena OTOF ndiyo yaiva chikonzero chekutambudzika kwekunzwa kwako. Zvisinei, kana chiremba wako akashandisa geni nzvimbo kuti atsanangure chirwere chekunzwa, waizoona kusanganiswa kwemashoko akanyorwa pamusoro apa, saDFNA3. Izvi zvingati zvinoreva kuti matsi yakanga iri gwaro rinotakura geni rine urongwa hwechitatu hwema mapepa emagetsi. DFNA3 inonziwo connexin-ine matsi ane chokuita 26 .

Kuziva Kunokonzera Kuora Kunetseka Kunogona Kuzivikanwa Sei?

Kuziva zvikonzero zvinokonzerwa nemasikirwo, izvo zvinotaurwawo navanachiremba seveti etiology , zvinogona kuvhiringidza zvikuru. Kuti ubatsire kuderedza dambudziko pakuziva chikonzero, iwe unofanirwa kuva neboka-based approach. Tende rako rinofanira kunge rine otolaryngologist, audiologist, geneticist, uye genetics mazano. Izvi zvinoratidzika seboka guru, kunyange zvakadaro rine makore anopfuura makumi matanhatu ekusiyana-siyana anokwanisa kukonzera kurasikirwa kwekunzwa, iwe unoda kuderedza chiyero chekuedzwa kana chero zvakakodzera.

Otolaryngologist yako, kana ENT, inogona kunge iri chiremba wokutanga waunoona mukuedza kuziva chikonzero chekuberekwa kwekunzwa kwemajini. Vachaita nhoroondo yakazara, kugadzirisa kuongorora kwemuviri, uye kana zvichifanira kukuendesai kumuteereri wenhungetedza kuitira kunyatsoteerera.

Imwe basa rebasa rinogona kusanganisira toxoplasmosis uye cytomegalovirus, sezvo izvi zvinowanzoitika zvirwere zvepabonde zvinogona kukonzera kurasikirwa kwevana mucheche. Parizvino, zvinowanzoitwa syndromic zvinokonzera kurasikirwa kwekunzwa zvinogona kuonekwa uye iwe unogona kutumirwa kune geneticist kuti uongorore mazamu akasiyana anokonzerwa nechirwere chinonzi chirwere.

Kana imwe syndromes yakajairika ichinyatsoonekwa kana kuti ikabviswa, ENT yako inokukurudzira kune geneticist uye genetic advisor. Kana paine kusinganzwisisiki maitiro akasiyana-siyana anofungidzirwa, kuongororwa kuchagadzirirwa kune majini. Kana pasina hurumende yakasiyana-siyana, ipapo geneticist yako ichakurukura kuti ndeupi maitiro ekuedza ari nani kutaridzirwa.

Your geneticist inotora ruzivo kubva kuongororo yehutudio kuti ibatsire kutonga zvimwe zvekuedzwa. Vanogonawo kuronga zvimwe zviedzo se electrocardiogram (ECG kana EKG) kutarisa mwoyo wako rhythm, izvo zvichabatsirawo kuderedza zvavanoedza. Chinangwa ndechekuti geneticist iwedzere kubatsirwa kwekuedzwa asati agadzirisa zviedzo zvinogona kuva kuparadza nguva, simba, uye zvigadzirwa.

> Sources:

> Congenital Deafness. American Hearing Research Foundation website. http://american-hearing.org/disorders/congenital-deafness/. Yakavandudzwa muna March 2017. Yakasvika musi waSeptember 30, 2017.

> Zviratidzo uye Kunzwa Kurasikirwa. American Academy of Otolaryngology - Musoro uye Neck Surgery website. http://www.entnet.org/content/genes-and-hearing-loss. Yakasvika musi waSeptember 30, 2017.

> Kuongorora Mazino Muhutano Kunzwa Kurasikirwa: Ongororo uye Nyaya Dzidzo. Audiology Online website. https://www.audiologyonline.com/articles/genetic-testing-in-childhood-hearing-820. Nyamavhuvhu 18, 2011. Yakasvika musi waSeptember 30, 2017.

> Shearer AE, Hildebrand MS, Smith RJH. Kunzwa Kwakagadzikana Kurasikirwa Nekusanzwa. 1999 Feb 14 [Mishizha 2017 Jul 27]. Mune: Pagon RA, Adhamu MP, Ardinger HH, et al., Vaparidzi. GeneReviews® [Indaneti]. Seattle (WA): University of Washington, Seattle; 1993-2017. Inowanikwa kubva kune: https://www.ncbi.nlm.nih.gov/books/NBK1434/