I-Genetics idlala indima enkulu ekulahlekelweni kweendlebe kunye nokuzithulu kubantwana abaselula kunye nabalupheleyo. Malunga nama-60 ukuya kuma-80 ekhulwini wezithulu kwiintsana (ukuzalwa kwesisithulu) kunokuthi kubangelwa uhlobo oluthile lwesimo somzimba.
Kwakhona kunokwenzeka ukuba udibanise ukulahlekelwa kwindlebe kunye nokulahlekelwa kwindlebe. Ukulahlekelwa kwindlebe efunyenwe kukulahlekelwa kwindlebe ngenxa yezinto ezinokusingqongileyo okanye iziphumo zamachiza okanye imisindo.
Iimpawu ze-Genetic ezibangelwa ukulahleka
Akukho konke ukulahlekelwa kwintsapho yokulahlekelwa yintsholongwane yemvelo, kwaye akukho konke ukulahleka kweendlebe ezichaphazelekayo ekuzalweni. Nangona uninzi lwentlupheko yokuvalelwa kwelifa lungahambelani ne-syndrome ethile, amaninzi ama-syndromes (i-angaphezu kwama-300) anxulumene nokulahlekelwa kwindlebe yokuzalwa, kuquka:
- I-Alport Syndrome-ebonakaliswe ukungaphumeleli kwindlala kunye nokulahlekelwa kwindlebe yokuphucula.
- I-Branchio-Oto-Renal syndrome
- I-X-linked Charcot Marie Tooth (i-CMT) -nokubangela i-peripheral neuropathy, iingxaki ezinyaweni, kunye nemeko ebizwa ngokuba "ngamathole ebhotile.
- I-Goldenhar's Syndrome-echazwe ngumsebenzi ongaphantsi kokuphuhliswa kwendlebe, impumlo, i-palate ethambileyo kunye ne-mandible. Oku kunokuchaphazela kwicala elinye lobuso, kwaye indlebe ingabonakala iqale.
- I-Jervell kunye neLange-Nielsen Syndrome-ngaphezu kokulahlekelwa kwindlebe yokuvalelwa, le meko ibangela ukuba i-cardiac arrhythmias ize iphele.
- I-Mohr-Tranebjaerg Syndrome (i-DFN-1) -i-syndrome ibangela ukulahlekelwa kwintswelo yokuvalelwa kwintsholongwane eqala ebuntwaneni (ngokuqhelekileyo emva kokuba umntwana efunde indlela yokuthetha) kwaye iyaqhubeka ihamba phambili. Kwakhona kubangela iingxaki zentshukumo (iingqamlezo zomzimba zengqondo) kunye nobunzima bokugwinya phakathi kwezinye iimpawu.
- I-Norrie Izifo-le syndrome nayo ibangela iingxaki ngamehlo kunye nokuphazamiseka kwengqondo.
- I-Pendred Syndrome-I-syndrome eyenziwe yintlungu ibangela ukulahlekelwa kwindlebe kwizinto zombini kunye neengxaki ze-thyroid (goiter).
- I-Stickler Syndrome-stickler syndrome inezinye iimpawu ezininzi ngaphezu kokulahlekelwa kwindlebe. Ezi zinto zingabandakanya umlomo ococekileyo kunye nentlungu, iingxaki zamehlo (nakubungaboni), iintlungu ezidibeneyo okanye ezinye izinto ezidibeneyo, kunye neempawu ezithile zobuso.
- I-Treacher Collins Syndrome-le syndrome ibangela ukuphuhliswa kwamathambo ebusweni. Abantu banokuba neembonakalo zobuso ezingavamile, kuquka neentloko zeentloko ezivame ukuhlahlela phantsi kwaye zingancinci zi-eyelashes.
- I-Waardenburg Syndrome-ngaphezu kwe-hearing loss loss syndrome ingabangela iingxaki zamehlo kunye nokungaqhelekanga kwi-pigment (umbala) weenwele kunye namehlo.
- Usher Syndrome- kunokubangela ukulahlekelwa kwindlebe kunye neengxaki ze-vestibular (ukuzondla kunye nokulahlekelwa kwemali).
Izizathu ezingezange-Syndromic zokulahlekelwa kwe-Genetic Hearing
Xa ukulahlekelwa kwindlebe yokuzalwa kungekho kunye nezinye iingxaki zempilo ezibizwa ngokuba yi-non-syndromic. Uninzi lwentlupheko yokuphulaphulwa kwemfuyo luwela kulolu hlobo.
Ukulahlekelwa kwindlebe engekho-syndromic ngokuqhelekileyo kubangelwa zizifo ezithintekayo.
Oku kuthetha ukuba ukuba omnye umzali udlula i-gene ehambelana nokulahlekelwa kwindlebe, ayiyi kubonakalisa okanye ayiyi kwenzeka kumntwana. Bobabini abazali kufuneka badlulise i-gene genetically to the child ukuze ilahleko yokuphulaphula ibe khona.
Nangona ukulahlekelwa kweendlebe ezihambelana nomzimba ogqithisileyo kuya kubonakala ngathi akunakwenzeka ukuba kwenzeke, malunga nama-70 kwimiba eyi-100 yokulahlekelwa kwindlebe ayiyi-syndromic kunye nabangama-80 kwabangama-100 abo bantu banokulahlekelwa kwindlebe ebangelwa iizakhi ezidlulileyo. Iipesenti ezingama-20 eziseleyo zivela ngenxa yeengqungquthela eziphezulu, ezifuna kuphela umfuzo kumzali omnye.
Ngaba Abanikezeli Bam Ukunakekela Ngamagama I-My Genetic Cause of Hearing Loss?
Ukuba uhlolisisa amanqaku akho ugqirha, unokufumana izibakala ongaziqondiyo.
Nantsi inkcazo yendlela ukulahlekelwa kwindlebe engekho-syndromic ingabhalwa kumanqaku odokotela:
- ogama libizwa ngokuba yi-disorder
- ___- isisithulu esinxulumene (apho i____ igulo elibangelwa isithulu)
- ebizwa ngokuba ngumhlaba
- I-DFN ithetha nje ukuthuluba
- Iindlela zokuzimela ezizimeleyo
- B kuthetha i-autosomal
- I-X ithetha i-X exhunywe (ihanjiswa ngabazali X i-chromosome)
- inani limela umyalelo we-gene xa ibalazwe okanye ifunyenwe
Umzekelo, ukuba i-disorder hearing ibizwa ngokuba ngumgubo othile ngugqirha wakho, unokubona into efana ne-OTOF-izithulu ezinxulumene nazo. Oku kuya kuthetha ukuba i-OTOF i-gene isisifo sesifo sakho sokuva. Nangona kunjalo, ukuba ugqirha wakho wasebenzisa i-gene geographic area ukuchaza ingxaki yokuphulaphula, uya kubona udibaniso lwamanqaku apha ngentla, njengeDFNA3. Oku kuya kuthetha ukuba ukungazithulu kwakuyi-gene ephezulu ye-autosomal ene-3 order order mapping gene. I-DFNA3 ikwabizwa ngokuba yi- connexin eziphathekayo ezingama-26 ezizithulu .
Uchonga njani i-Genetic Disorder Loss Disorder?
Ukuchonga izizathu zezofuzo, ezichazwe ngamagqirha njenge- etiology , zinokukhathazeka kakhulu. Ukuncedisa ukunciphisa ubunzima ekuboniseni isizathu, kufuneka ube neendlela ezisekelwe kwiqela. Iqela lakho kufuneka libe ne-otolaryngologist, i-audiologist, i-geneticist, kunye nomcebisi we-genetics. Oku kubonakala ngathi liqela elikhulu, nangona kunamaqela angaphezu kwama-65 ahlukahlukeneyo angabangela ukulahlekelwa kwindlebe, uya kufuna ukunciphisa inani lokuvavanya ukuba kukho na okufunekayo.
I- otolaryngologist yakho, okanye i-ENT, ingaba ugqirha wokuqala owubonayo ekuzameni ukufumanisa imbangela yokulahleka kweendlebe zokuzalwa. Baya kwenza imbali enenkcazo, bagqibe ukuhlolwa komzimba, kwaye ukuba kuyimfuneko kukuthumela kwi-audiologist ukuze uphuhlise i-audiology.
Olunye umsebenzi webhanki ungabandakanya i-toxoplasmosis kunye ne-cytomegalovirus, njengoko ezi zixhaphake ngokusana ngaphambi kokubeleka ezingabangela ukulahlekelwa kwindlebe kwiintsana. Kule ngongoma, iimeko eziqhelekileyo ezibangelwa ukulahlekelwa kwindlebe zingabonwa kwaye ungathunyelwa kwi-geneticist ukuvavanya iizakhi ezithile zezilwanyana ezinxulumene nesifo esityhalwayo.
Xa ama-syndromes aqhelekileyo sele afunyanwe okanye apheliswe, i-ENT yakho iya kukuncoma kumcebisi wezofuzo kunye nomcebisi wezofuzo. Ukuba kukho ukukhankanywa kohlobo lwezinto eziphilayo ezikhankanywayo, ukuvavanywa kuya kugqitywa kulawo majelo. Ukuba akukho nto ikhethiweyo yezofuzo, umgcini wakho wezofuzo uza kuxubusha ukuba zeziphi iindlela zokuhlola ezifanelekileyo ukuba ziqwalaselwe.
I-geneticist yakho iya kuthatha ulwazi kwi-audiology ukuhlola ukukunceda ukulawula ezinye zezilingo. Bangahle bahlele ezinye iimvavanyo ezifana ne-electrocardiogram (ECG okanye EKG) ukujonga intliziyo yakho isigqi, esiya kunceda ukunciphisa oko bavavanya. Injongo yenzelwe i-geneticist ukunyusa inzuzo yokuvavanywa ngaphambi kokuyalela iimvavanyo ezingaba yinkcitho yexesha, imizamo kunye nezibonelelo.
> Imithombo:
> Ubuthathaka. I-website ye-American Hearing Research Foundation. http://american-hearing.org/disorders/congenital-feafness/. Ukuhlaziywa kweyoKwindla ngo-2017. Kufumaneke ngo-Septemba 30, 2017.
> Iimvelaphi kunye nokuLahleka. I-American Academy ye-Otolaryngology - iNkundla ye-Head and Neck Surgery. http://www.entnet.org/content/genes-and-hearing-loss. Kufumaneke ngoSeptemba 30, 2017.
> Ukuhlolwa kwe-Genetic kwi-Childhood yokuLawula ukuLawula: UkuPhononongwa noPhando lweeNkalo. Website ye-Audiology. https://www.audiologyonline.com/articles/genetic-testing-in-childhood-hearing-820. NgoJulayi 18, 2011. Kufikeleleke ngo-Septemba 30, 2017.
> Umcebisi AE, uHildebrand MS, Smith RJH. Ukuphulaphula ukuHlulelwa kweNdawo yokuHlala kunye noTshinga. Ngo-1999 Februwari 14 [Ukuhlaziywa ngo-2017 Julayi 27]. Ku: Pagon RA, MP MP, Ardinger HH, et al, abahleli. GeneReviews® [Intanethi]. Seattle (WA): Yunivesithi yaseWashington, Seattle; 1993-2017. Kufumaneka ukusuka: https://www.ncbi.nlm.nih.gov/books/NBK1434/