Mankhwala amtunduwu amachititsa chidwi kwambiri pakumva komanso kumamva kwa ana komanso okalamba. Pafupifupi 60 mpaka 80 peresenti ya ogontha m'mabanja (kugontha osabereka) amatha kukhala ndi mtundu wina wa chibadwa.
N'zotheka kukhala ndi kusanganikirana kwa chibadwa chakumva ndikumva kutayika. Kupweteka kwakumvetsera kumatayika chifukwa cha chilengedwe chomwe chimayambitsa matenda monga mankhwala kapena mankhwala.
Syndromes Yachibadwa Yomwe Imamva Kumva
Sikuti onse amene ali ndi vuto lakumva kumatenda ali ndi chibadwa, ndipo sikuti onse omwe amamwalira amamva ngati akubadwa. Ngakhale kuti kuchuluka kwa kumva kutengera kwa cholowa sikugwirizanitsidwa ndi matenda enaake, ambiri a ma genetic syndromes (mwina opitirira 300) amathandizidwa ndi imfa ya kumva, kuphatikizapo:
- Alport Syndrome-yomwe imadziwika ndi kulephera kwa mphuno komanso kupweteka kwakumverera kwapang'onopang'ono.
- Matenda a Branchio-Oto-Renal
- Charcot Marie Tooth (CMT) yomwe imagwirizanitsidwa ndi X-imayambitsa matenda a ubongo, mavuto a m'mapazi, ndi chikhalidwe chomwe chimatchedwa "makapu a pulasitiki."
- Goldenhar's Syndrome-yofotokozeredwa ndi kupweteka kwa khutu kwa khutu, mphuno, khola lofewa, ndi mandible. Izi zingakhudze mbali imodzi yokha ya nkhope, ndipo khutu likhoza kuwonekera pang'ono.
- Jervell ndi Lange-Nielsen Syndrome-kuphatikizapo kupweteka kwa kumva kwachisokonezo, matendawa amachititsanso kuti mtima wa mtima ugwedezeke.
- Mohr-Tranebjaerg Syndrome (DFN-1) -kumayambitsa matendawa kumayambitsa kumva kutayika kwakumva komwe kumayambira muubwana (nthawi zambiri mwana akamaphunzira kulankhula) ndipo amakula mofulumira. Zimayambitsa mavuto oyendayenda (zovuta kudziletsa) komanso kuvutika pakati pa zizindikiro zina.
- Matenda a Norrie-matendawa amachititsanso mavuto ndi kusokonezeka maganizo.
- Matenda a Pendred-Matendawa amachititsa kuti thupi lisamve bwino m'makutu onse awiri pamodzi ndi mavuto a chithokomiro (goiter).
- Stickler Syndrome-stickler syndrome imakhala ndi zina zambiri kuphatikizapo kutaya kwakumva. Izi zikhoza kuphatikiza mkamwa ndi mkamwa, mavuto a maso (ngakhale akhungu), kupweteka pamodzi kapena zochitika zina, komanso nkhope zina.
- Treacher Collins Syndrome-matendawa amachititsa kuti mafupa asapitirire patsogolo. Anthu amatha kukhala ndi nkhope zosaoneka bwino, kuphatikizapo maso awo omwe amayamba kugwa pansi komanso pang'ono.
- Waardenburg Syndrome-kuphatikizapo kumva kutayika kwa matendawa kungayambitse vuto la maso ndi zosaoneka bwino mu mtundu wa tsitsi ndi maso.
- Usher Syndrome- ikhoza kuyambitsa mavuto onse akumva ndi zobisika (chizungulire ndi kusawonongeka).
Zomwe Sizomwe Zimayambitsa Zokwanira za Kumva Kwachibadwa
Pamene kutaya kwakumva kwachibadwa sikuli limodzi ndi mavuto ena azaumoyo amatchedwa non-syndromic. Ambiri amatha kumva kutayika kwa chibadwa.
Kupanda kumva kwa syndromic kumamva kawirikawiri kumayambitsa majeremusi omwe amakhala ovuta kwambiri.
Izi zikutanthauza kuti ngati kholo limodzi likadutsa jini lomwe limagwirizanitsidwa ndi kumva, sizingatheke kapena sizidzachitika mwa mwanayo. Makolo onse awiri ayenera kupatsira mwanayo mankhwala enaake kuti asamve.
Ngakhale kuti vuto lakumva losemphana ndi majeremusi ochepa kwambiri silingakwaniritsidwe, pafupifupi 70 pa 100 aliwonse omwe amamva kutaya magazi ndi omwe alibe syndromic ndipo 80 mwa anthu 100 mwa anthu 100 aliwonse amamva kutayika kumene kunayambitsidwa ndi majeremusi ambiri. Zotsala 20 peresenti zimapezeka chifukwa cha majini akuluakulu, zomwe zimangotenga jini kuchokera kwa kholo limodzi.
Kodi Zopereka Zanga Zanga Zimasonyeza Bwanji Chibadwa Chake Chokumva Kutayika?
Ngati mukuwerengera zolemba za dokotala wanu, mukhoza kupeza zizindikiro zomwe simukuzimvetsa.
Pano pali kufotokozera momwe kuperewera kwakumverera kosagwiritsire ntchito kwa syndromic kungatchulidwe kwa madokotala:
- wotchulidwa ndi matendawa
- Omwe amamva_momwe amamva (pamene ___ ndi jini yomwe imachititsa kumva wogontha)
- dzina lake ndi malo a gene
- DFN kumangotanthauza kugontha
- Njira yamagalimoto yotchuka kwambiri
- B amatanthauzanso kuti autosomal recessive
- X imatanthauza X-yothandizidwa (yoperekedwa kudzera mwa makolo X chromosome)
- chiwerengero chimayimira dongosolo la jini pamene amapangidwe kapena kupangidwa
Mwachitsanzo, ngati vuto lakumva limatchulidwa ndi jini yeniyeni ndi dokotala wanu, mukhoza kuona zofanana ndi za ogontha okhudzana ndi OTOF. Izi zikutanthauza kuti jini la OTOF linali chifukwa cha matenda anu akumva. Komabe, ngati dokotala adagwiritsa ntchito malo amtunduwu kuti afotokoze vuto lakumva, mungathe kuona kuphatikiza kwa mfundo zomwe zili pamwambapa, monga DFNA3. Izi zikutanthauza kuti wogontha anali geni yambiri ya autosomal yomwe ili ndi dongosolo lachitatu la mapu a jini. DFNA3 imatchedwanso connexin wogwirizana ndi 26 .
Kodi Kusowa Kwachisokonezo Kumva Kumabadwa Kumadziwika Bwanji?
Kuzindikira kuti zimayambitsa matenda, zimatchulidwanso ndi madokotala monga etiology , zingakhale zokhumudwitsa kwambiri. Pofuna kuthandizira kuchepetsa vutoli pozindikira chomwe chikuyambitsa, muyenera kukhala ndi njira yogwirizana. Gulu lanu liyenera kukhala ndi otolaryngologist, audiologist, geneticist, ndi mlangizi wa ma genetics. Izi zikuwoneka ngati gulu lalikulu, komabe ali ndi mitundu yoposa 65 yosiyanasiyana yomwe ingachititse kumva kutayika, muyenera kuchepetsa kuchuluka kwa kuyezetsa ngati kuli kofunikira.
Otolaryngologist wanu, kapena ENT, angakhale dokotala woyamba mukuwona poyesera kudziwa chomwe chimayambitsa kutaya kwa majini. Adzakhala ndi mbiri yambirimbiri, amaliza kafukufuku wamthupi, ndipo ngati kuli kotheka akukutumizirani kwa katswiri wa zamaganizo kuti mumvetsetse bwino zomwe mukuwerenga.
Ntchito ina ya labu ingaphatikizepo toxoplasmosis ndi cytomegalovirus, chifukwa izi ndizochilombo toyambitsa matenda omwe angabweretse kumvetsera kwa ana. Panthawiyi, zizindikiro za syndromic zomwe zimayambitsa kumva kutayika zimatha kudziwika ndipo mukhoza kutumizidwa kwa geneticist kuti muyese zamoyo zomwe zimagwirizanitsa ndi matenda omwe akuganiza kuti ali ndi matenda.
Ngati syndromes yodziwika yodziwikiratu kapena yowonongeka, ENT yanu imakulimbikitsani kuti mukhale ndi a geneticist ndi a genetic counselor. Ngati akukayikira kuti pali mitundu yosiyanasiyana ya chibadwa, kuyezetsa kumakhala kochepa kwa majini aja. Ngati palibe chiwerengero cha chibadwa chokha, ndiye kuti chibadwa chanu chidzakambirana zomwe mungayesedwe poyesera.
Wachibadwa wanu adzalanditsa chidziwitso kuchokera ku mafukufuku a audiology kuti athandize kuchotsa zina mwa mayeso. Angayambitsenso mayesero ena monga electrocardiogram (ECG kapena EKG) kuti ayang'ane mtima wanu, zomwe zingathandizenso kuchepetsa zomwe akuyesera. Cholinga chake ndi cha geneticist kuti lipindule kwambiri ndi mayesero musanayese mayeso omwe angakhale kudula nthawi, khama, ndi chuma.
> Zotsatira:
> Kutonthoza kwa Congenital. Webusaiti ya American Hearing Research Foundation. http://american-hearing.org/disorders/congenital-deafness/. Idasinthidwa pa March 2017. Inapezeka pa September 30, 2017.
> Chibadwa ndi Kumva Kutayika. American Academy of Otolaryngology - Webusaiti ya Mutu ndi Opaleshoni. http://www.entnet.org/content/genes-and-hearing-loss. Inapezeka pa September 30, 2017.
> Kuyezetsa magazi m'bwana Kukumva kutayika: Kupenda ndi Kuphunzira Mutu. Ondiology Online webusaiti. Chiwongoladzanja July 18, 2011. Anapezeka pa September 30, 2017.
> Shearer AE, Hildebrand MS, Smith RJH. Kuwonongeka Kwakumva Kwakumva ndi Kumva mwachidule. 1999 Feb 14 [Kusinthidwa 2017 Jul 27]. Mu: Pagon RA, Adam MP, Ardinger HH, et al., Olemba. GeneReviews® [intaneti]. Seattle (WA): University of Washington, Seattle; 1993-2017. Ipezeka kuchokera ku: https://www.ncbi.nlm.nih.gov/books/NBK1434/