Izakhi zofuzo zidlala indima enkulu ekulahlekelweni kwezindlebe nokuzwa ezindlebeni nasezikhulile. Amaphesenti angaba ngu-60 kuya kwengu-80 ezithulu ezinganeni (ukuzalwa kwesithulu) zingathiwa uhlobo oluthile lwezimo zofuzo.
Kungenzeka futhi ukuthi uhlangane nokulahleka kokulalelwa kwezakhi zofuzo futhi ulahlekelwe ukuzwa. Ukulahleka kokuzwa okuzwakalayo ukulahlekelwa kwezindlebe okwenzeka ngenxa yesimo semvelo njengemiphumela emibi yezokwelapha noma ukuvezwa kwamakhemikhali noma umsindo omkhulu.
I-Genetic Syndromes Yenza Ukuzwa Kulahlekelwe
Akuwona wonke ukulahleka kokuzwa komzimba okubangelwa ukuzalwa komzimba okuyizo zonke izakhi zofuzo, futhi akuzona zonke ukulahlekelwa kwezindlebe eziphathelene nokuhlukumezeka ezikhona lapho kuzalwa. Ngenkathi iningi lokulahlekelwa kwezindlebe ezihlobene nokuzalwa alihlotshaniswa nesifo esithile, ama-syndromes amaningi (mhlawumbe angaphezu kuka-300) ahlobene nokulahlekelwa kokuzwa kokuzalwa, okufaka:
- I-Alport Syndrome-ekhonjiswe ukuhluleka kobuqili nokulahlekelwa kokuzwa kwezinzwa eziqhubekayo.
- I-Branchio-Oto-Renal syndrome
- I- Charcot Marie Tooth (i-CMT) ehlobene no-X-futhi ibangelwa i-neuropathy yochungechunge, izinkinga ezinyaweni, nesimo esibizwa ngokuthi "amathole we-bottle campaign".
- I-Goldenhar's Syndrome-eqondiswa ukuthuthukiswa kwendlebe, impumu, i-palate ethambile, kanye ne-mandible. Lokhu kungathinta uhlangothi olulodwa lwesbuso, futhi indlebe ingase ibonakale isakhiwe kancane.
- I-Jervell ne-Lange-Nielsen Syndrome-ngaphezu kokulahlekelwa ukuzwa kwezinzwa, lesi simo senza futhi ama-arrhythmias enhliziyo futhi aphelelwe amandla.
- I-Mohr-Tranebjaerg Syndrome (i-DFN-1) -i-syndrome ibangela ukulahleka kokuzwa kwezinzwa ezitholakala ebuntwaneni (ngokuvamile ngemva kokuba ingane ifunde ukukhuluma) futhi iqhubeka iqhubeka kancane. Kubangela nezinkinga zokunyakaza (ukuhlukunyezwa kwemisipha engavamile) kanye nobunzima ukugwinya phakathi kwezinye izimpawu.
- I-Norrie Izifo-le-syndrome nayo ibangela izinkinga ngamehlo nokuphazanyiswa kwengqondo.
- I-Pendred Syndrome-I-syndrome ehlose idala ukulahlekelwa kokuzwa kwezinzwa ezindlebeni zombili kanye nezinkinga ze-thyroid (goiter).
- I-Stickler Syndrome-stickler syndrome inezinye izici eziningi ngaphezu kokulahlekelwa kokuzwa. Lezi zingase zihlanganise umlomo ozwakalayo nomlomo, izinkinga zamehlo (ngisho nobuphofu), ubuhlungu obuhlangene noma ezinye izinkinga ezihlangene, nezici zobuso ezithile.
- I-Treacher Collins Syndrome-le syndrome iholela ekuthuthukiseni kwamathambo ebusweni. Abantu bangase babe nezici zobuso ezingavamile, kufaka phakathi izinkophelo ezivame ukwehlisela phansi futhi kancane kunama-eyelashes.
- I-Waardenburg Syndrome-ngaphezu kokuzwa ukulahlekelwa yi-syndrome kungabangela izinkinga zamehlo nokungavamile ku-pigment (umbala) wezinwele namehlo.
- I-Usher Syndrome- ingabangela kokubili ukulahlekelwa kokuzwa kanye nezinkinga ze-vestibular (ukuzondeka nokulahlekelwa ibhalansi).
Izimbangela ezingezona ezeSyndromic zokulahlekelwa kwe-Genetic Hearing
Uma ukulahlekelwa kwezindlebe zokubeletha akuhambisani nezinye izinkinga zempilo okuthiwa yi-non-syndromic. Iningi lokulahlekelwa kokulalelwa kwezakhi zofuzo liwela kulolu hlobo.
Ukungalahleki kokuzwa okungavumelani nakho kubangelwa yizifo ezithintekayo.
Lokhu kusho ukuthi uma umzali oyedwa edlula igesi ehambisana nokulahlekelwa kokuzwa, ngeke kuvezwe noma ngeke kwenzeke enganeni. Bobabili abazali kudingeka badlulisele i-gene ephindaphindiwe ukuze ingane ibe khona.
Nakuba ukulahlekelwa kokuzwa okuhlobene nesakhi sofuzo kungase kubonakale kungenakwenzeka, amacala angaba ngu-70 kwamaphesenti angu-100 okuzwa ukulahlekelwa ukuzwa akuyona ingqondo futhi abangamashumi ayisishiyagalolunye kulabo abalalelwa yilabo abazwa ukulahlekelwa okubangelwa izakhi zofuzo ezithintekayo. Amaphesenti angama-20 asele ayenzeka ngenxa yezakhi zofuzo ezidumile, okudinga kuphela isakhi kumzali oyedwa.
Abahlinzeki Bami Abanakekeli Bami Bashayela Kanjani Umthombo Wami Wokuzizwa Wokulahlekelwa?
Uma ubukeza amanothi akho kadokotela, ungathola ama-acronyms ongawaqondi.
Nansi incazelo yokuthi ukulahlekelwa kokuzwa okungenayo syndromic kungabhalwa kumanothi odokotela:
- okuthiwa yi-disorder
- U-___- oyisithulu esihlobene (lapho ___ isisusa esibangela isithulu)
- okuthiwa yi-gene geographic location
- I-DFN ivele isho ukuzwa
- I-autosomal ebonakalayo iyinhloko
- I-B isho ukuthi i-autosomal igqamile
- I-X isho i-X ehlanganisiwe (ihanjiswa ngabazali i-X i-chromosome)
- inombolo imele ukuhlelwa kwegesi uma ihlelwe noma ifakwe
Isibonelo, uma isifo sokuzwa sibhekwa ngogesi oluthize ngudokotela wakho, ungabona into efana nezithulu ezihlobene ne-OTOF. Lokhu kusho ukuthi i-OTOF yegciwane yimbangela yesifo sakho sokuzwa. Kodwa-ke, uma udokotela wakho esebenzisa indawo yesigcawu ukuze achaze isifo sokuzwa, uzobona inhlanganisela yamaphuzu ashiwo ngenhla, njenge-DFNA3. Lokhu kungasho ukuthi isithulu kwakuyi-gene ephethe i-autosomal ene-3 yokuhlelwa kwebalazwe yezakhi zofuzo. I-DFNA3 iphinde ibhekiswe njengezithulu ezihlobene no-26 .
Isifo Sokulahlekelwa Kokulahlekelwa Ukuzwela Kungasetshenziswa Kanjani?
Ukubona izimbangela zezofuzo, okukhulunywe ngazo odokotela njenge- etiology , kungakhungathekisa kakhulu. Ukuze usize ukunciphisa ubunzima ekuboneni imbangela, kufanele ube ne-based based approach. Ithimba lakho kufanele libe ne-otolaryngologist, i-audiologist, i-geneticist, kanye nomeluleki wezakhi zofuzo. Lokhu kubonakala njengeqembu elikhulu, noma ngabe kunezinguquko ezingaphezu kwezingu-65 ezingokwemvelo ezingaholela ekulahlekelweni kokuzwa, uzofuna ukunciphisa inani lokuhlolwa uma kunesidingo.
I- otolaryngologist yakho, noma i-ENT, ingaba udokotela wokuqala oyibonayo ekuzameni ukucacisa imbangela yokulahlekelwa kokulalelwa kwezakhi zofuzo. Bazokwenza umlando oningiliziwe, baqede ukuhlolwa ngokomzimba, futhi uma kunesidingo bakunikele kumuntu we-audiologist ukuze uthole ukuhlukumeza ngokuzwakalayo.
Olunye umsebenzi welabhu ungabandakanya i-toxoplasmosis ne-cytomegalovirus, ngoba lezi zifo ezijwayelekile ngaphambi kokubeletha ezingabangela ukulahlekelwa ukuzwa kwezingane. Kuleli qophelo, izimbangela ezivamile zokuzwa ukulahlekelwa kwezindlebe zingabonakala futhi ungathunyelwa ku-geneticist ukuhlola izakhi zofuzo ezihlobene nesifo esicatshangelwayo.
Uma ngabe ama-syndromes avamile aye abonakala noma aqedwe, i-ENT yakho izokutusa ku-geneticist kanye nomeluleki wezofuzo. Uma kukhona okusolakala ukuthi kunezici zofuzo okusolakala ukuthi, ukuhlolwa kuzokhawulelwa kulawo gciwane. Uma kungekho okungafani okusolakala kofuzo, i-geneticist yakho izoxoxa ukuthi yiziphi izinketho zokuhlola okufanele zibhekwe ngazo.
I-geneticist yakho izothatha ulwazi oluvela ekuhloleni kwe-audiology ukuze kusize ukukhipha ukuhlolwa okunye. Bangase bahlele nezinye izivivinyo ezifana ne-electrocardiogram (ECG noma i-EKG) ukubheka isigqi senhliziyo yakho, okuzosiza ekunciphiseni lokho abavivinya ngakho. Umgomo wenzelwa i-geneticist ukukhulisa inzuzo yokuhlolwa ngaphambi kokuyala izivivinyo ezingase zibe ukuchitha isikhathi, imizamo kanye nezinsiza.
> Imithombo:
> Izisulu ezingenacala. I-American Hearing Research Foundation iwebhusayithi. http://american-hearing.org/disorders/congenital-deafness/. Kubuyekezwe ngo-Mashi 2017. Kufinyelelwe ngo-September 30, 2017.
> I-Genetic and Hearing Loss. I-American Academy ye-Otolaryngology - Iwebhusayithi ye-Head and Neck Surgery. http://www.entnet.org/content/genes-and-hearing-loss. Ifinyelele ngo-Septhemba 30, 2017.
> Ukuvivinya I-Genetic Ekukhuleni Ukuzwa Ukulahlekelwa: Ukubuyekezwa Nezifundo Zezinkinga. Iwebhusayithi ye-Audiology Online. https://www.audiologyonline.com/articles/genetic-testing-in-childhood-hearing-820. NgoJulayi 18, 2011. Kufinyelelwe ngo-September 30, 2017.
> Shearer AE, uHildebrand MS, Smith RJH. Ukulalela Ukulahlekelwa Kokuzizwa Nokuzizwa Okungaqondakali. 1999 Feb 14 [Kubuyekezwe 2017 Jul 27]. Ku: Pagon RA, MP MP, Ardinger HH, et al., Abahleli. GeneReviews® [Inthanethi]. Seattle (WA): University of Washington, Seattle; 1993-2017. Itholakala kusuka: https://www.ncbi.nlm.nih.gov/books/NBK1434/