Ngaba nawe unengxaki yokuva ngenxa yotshintsho eluswini, kwiinwele, nasemlonyeni wamehlo? Makhe sithethe ngale nto (iWaardenburg Syndrome)!

Ngamanye amaxesha usenokuba uqaphele ukuba phakathi kwabantu bethu, kukho abantu ababeneenwele ezimhlophe ukususela ebuntwaneni, okanye abantu abaneliso eliluhlaza okwesibhakabhaka nelinye elimdaka. Abanye abantu baneengxaki zokuva ukususela ebuntwaneni. Ngamanye amaxesha kunokubakho isizathu semfuza emva kwezi zinto esingazaziyo. Leyo yimeko ekhethekileyo esiza kuthetha ngayo namhlanje (iWaardenburg Syndrome) . Musa ukoyika, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.

Yintoni iWaardenburg Syndrome? Ngamafutshane...

Kulungile, masibone ukuba yintoni le (i-Waardenburg Syndrome). Le yimeko yemfuza . Oko kukuthi, ibangelwa lutshintsho kwiijini emizimbeni yethu. Ukuchaneka, le meko inokutshintsha umbala (umbala) weenwele zakho, amehlo, kunye nolusu . Akunjalo kuphela, kodwa abanye abantu banokuba nokukhubazeka kokuva ngenxa yoku. Kukho iintlobo ezine eziphambili zale nto (i-Waardenburg Syndrome). Ezi ntlobo zibangelwa lutshintsho olwahlukileyo (ukuguqulwa kwezakhi zofuzo) kwiijini ezintandathu. Uhlobo ngalunye luneempawu ezithile ezikhethekileyo.

Ngubani ofumana i-Waardenburg Syndrome?

Ekubeni esi sisifo semfuza, sinokuchaphazela nabani na. Amaxesha amaninzi, umntwana ufumana i-gene yale meko kumama okanye kutata. Ngokwezonyango, oku kubizwa ngokuba yi-"autosomal dominant" inheritance. Kwimeko enjalo, umzali onika i-gene udla ngokuba naso esi sifo. Khawucinge nje, ukuba umama okanye utata unazo ezi mpawu, umntwana naye unokuzifumana.

Nangona kunjalo, ngamanye amaxesha uhlobo lwe-Waardenburg Syndrome II kunye no-IV lunokudluliselwa njenge- "autosomal recessive" gene. Oku kuthetha ukuba bobabini abazali kufuneka babe ngabathwali be-gene echaphazelekayo, kodwa abanazo iimpawu. Nangona kunjalo, ukuba bobabini abazali badlulisela i-gene kumntwana wabo, umntwana unokuba nale meko.

Kunqabile kakhulu ukuba le meko ivele kumntu ongenalo imbali yosapho, ngenxa yotshintsho olutsha lwemfuza.

Kuqheleke kangakanani oku?

I-Waardenburg Syndrome ichaphazela umntu omnye kubantu abangama-40,000 . Ikwangunobangela phakathi kwe-2% kunye ne-5% yokulahlekelwa kukuva okuzelwe nako.

Ingaba iWaardenburg Syndrome iwuchaphazela njani umzimba wam?

Utshintsho lwemfuza olubangela oku lunokuchaphazela ukuva kwakho. Abanye abantu bava ngendlela eqhelekileyo, kodwa abanye bazalwa benokulahlekelwa kakhulu kukuva (ukuzalwa). Ezi mfuza zinokutshintsha nokubonakala kwamehlo akho, ulusu, kunye neenwele . Usenokuba namehlo amabini okanye ngaphezulu anemibala eyahlukeneyo. Le meko inokubangela ukuba ezinye iindawo zolusu lwakho zibe mhlophe kunezinye, iinwele zakho zitshintshe umbala, kwaye iinwele zakho zibe ngwevu, ingakumbi xa usemncinci kakhulu .

Zithini iimpawu zeWaardenburg Syndrome?

Iimpawu zesi sifo ziyahluka kumntu nomntu. Zinokwahluka nangaphakathi kosapho olunye. Iimpawu eziphambili kukulahlekelwa kukuva kunye nokuguquka kombala weenwele, ulusu kunye namehlo. Ukongeza, kukho iimpawu ezithile kuxhomekeke kuhlobo lweWaardenburg Syndrome. Umzekelo, kuhlobo 1, kukho ukwanda komgama phakathi kwamehlo, kuhlobo 3, ukungaqheleki ezandleni nakwiminwe, kwaye kuhlobo 4, kukho isifo samathumbu esibizwa ngokuba sisifo seHirschsprung .

Ukuphazamiseka kokuva

Abanye abantu abane-Waardenburg Syndrome banokuba nokulahlekelwa kokuva okuphakathi ukuya kokukhulu kwindlebe enye okanye zombini. Nangona kunjalo, kwezinye iimeko, ukuva kusenokungachaphazeleki konke konke. Oku kulahlekelwa kukuva kukuzalwa .

Iimpawu zombala

I-Waardenburg Syndrome inokubangela utshintsho kwizinwele zakho, ulusu, kunye nombala wamehlo, oku kulandelayo:

• Amehlo akhanyayo kakhulu, aluhlaza okwesibhakabhaka.
• Unamehlo amabini anemibala emibini. Khawuthelekelele, elinye liluhlaza okwesibhakabhaka elinye limdaka.
• I-Heterochromia irides kukutshintsha kombala kwindawo enombala yeliso (iris) kwanangaphakathi kweliso elinye.
• Ubukho bengqukuva emhlophe okanye ingqukuva yeenwele ezinweleni, ngokuqhelekileyo ngaphezulu kwebunzi (intloko).
• Ukuguguleka kweenwele usemncinci kakhulu.
• Ukuba namabala okanye amabala eluswini akhanyayo kunezinye iindawo (i-congenital leukoderma) .

Zeziphi iintlobo zeWaardenburg Syndrome?

Kukho iintlobo ezine eziphambili zeWaardenburg Syndrome. Ugqirha uya kuyixilonga le hlobo ngokusekelwe kwiimpawu zakho.

• Uhlobo I: Umgama phakathi kwamehlo mkhulu kakhulu, kwaye ibhuloho yempumlo ibanzi.
• Uhlobo lwesibini: Ukulahlekelwa kukuva okuphakathi ukuya kokukhulu.
• Uhlobo lwesithathu - Ikwabizwa ngokuba yi-"Klein-Waardenburg syndrome": ukulahleka kokuva, utshintsho kwibala lolusu, kunye nokuphazamiseka kokukhula kwamathambo ezandla neminwe.
• Uhlobo lwesine - Ekwaziwa ngokuba yiWaardenburg-Shah syndrome: Kunye nazo zonke ezinye iimpawu zeWaardenburg syndrome, imeko ebizwa ngokuba sisifo sikaHirschsprung nayo iyenzeka. Oku kunokubangela ukuqhina okukhulu okanye ukuvaleka kwamathumbu.

Kwezi, iintlobo I kunye ne-II zezona zixhaphakileyo. Iintlobo III kunye ne-IV azixhaphakanga kakhulu.

Zithini izizathu zeWaardenburg Syndrome?

I-Waardenburg Syndrome ibangelwa kukuguquka kwenye okanye ngaphezulu kwezi jini zilandelayo:

• `(EDN3)` (yohlobo lwe-IV)
• `(EDNRB)` (yohlobo lwe-IV)
• `(MITF)` (yohlobo II)
• `(PAX3)` (kwiintlobo I kunye ne-III)
• `(SNAI2)` (yohlobo lwesibini)
• `(SOX10)` (yohlobo lwe-IV)

Ezi jini zezona zidala iintlobo ezahlukeneyo zeeseli emzimbeni wethu. Phakathi kwazo, uhlobo oluthile lweeseli olubizwa ngokuba yi- "melanocytes" lwenziwe ngezi seli. Ezi seli zivelisa umbala othi "melanin pigment" onika umbala kulusu lwethu, iinwele, namehlo ethu.Ukongeza ekuveliseni imibala, ezi seli zikwanegalelo ekusebenzeni kwenxalenye engaphakathi yendlebe yethu. Ngoko ke, ukuba kukho utshintsho nakweyiphi na kwezi jini, lunokubangela ezi mpawu.

Ifunyaniswa njani iWaardenburg Syndrome?

Ugqirha womntwana wakho unokuxilonga iWaardenburg Syndrome xa ezalwa okanye ebuntwaneni bakhe . Baza kwenza uvavanyo lomzimba ukuze bajonge iimpawu kunye nembali yempilo yosapho lwakho. Ugqirha wakho unokucebisa novavanyo lwemfuza ukuqinisekisa ukuxilongwa kunye nokukhangela ezinye iimpawu ezinxulumene nale meko, ezinje:

• Uvavanyo lwamehlo.
• Uvavanyo lokuva .
• Ngokuxhomekeke kuhlobo lweempawu, uvavanyo lwemifanekiso lunokwenziwa endlebeni engaphakathi, ezandleni nakwiminwe, okanye emathunjini.

Inyangwa njani iWaardenburg Syndrome?

Ayizizo zonke iintlobo zeWaardenburg Syndrome ezifuna unyango. Nangona kunjalo, ukuba kukho naziphi na iimpawu, zinyangwa njengoko kufuneka. Umzekelo:

• Ukusebenzisa izixhobo zokuva okanye ukwenza utyando lwe-cochlear implant ngenxa yokuphazamiseka kokuva.
• Ukusebenzisa i-sunscreen ukukhusela iindawo ezinotshintsho kwimibala yolusu oluvela elangeni .
• Ukuba unesiphene sokuqhinwa (ingakumbi uhlobo lwesine), thatha amayeza okanye ukutya ukutya okunefayibha eninzi .
• Utyando lokususa okanye ukulungisa inxalenye yamathumbu evalekileyo (uhlobo lwesine).
• Ukusebenzisa iiloshini okanye amafutha okugcoba ukugcina ulusu lusempilweni.

Ngaba iWaardenburg Syndrome inokuthintelwa?

Ekubeni oku kubangelwa kukuguquka kwezakhi zofuzo, akukho ndlela yokwenyani yokukuthintela . Nangona kunjalo, ukuba ufuna ukwazi umngcipheko wokuba nomntwana onesifo sezakhi zofuzo, ungathetha nogqirha malunga neengcebiso kunye novavanyo lwezakhi zofuzo .

Yintoni endimele ndiyilindele ukuba umntwana wam une-Waardenburg Syndrome?

Ukuba umntwana wakho ufunyaniswe ene-Waardenburg Syndrome, kubalulekile ukuba ahlolwe rhoqo ukuva ubomi bakhe bonke. Oku kunokubandakanya ukubona ugqirha okanye ingcali ye-audiologist. Oku kungenxa yokuba iingxaki zokuva ezenzeka ebuntwaneni zinokulibazisa ukukhula kwaye zichaphazele uphuhliso lwengqondo . Nangona kunjalo, abantu abanale meko banokuxhamla kwi -cochlear implants kunye nezixhobo zokuva .

Eyona nto ibalulekileyo kukubona umntwana wakho enengxaki yokuva kwangethuba kwaye unike uncedo olufunekayo.

Iinwele, amehlo, kunye nombala wolusu lomntwana wakho zinokumenza azive engakhululekanga kwaye ahluke kontanga bakhe. Kwiimeko ezinjalo, abanye abantwana bayazuza kwiindlela zokunika iingcebiso zengqondo ezifana ne -cognitive behavioral therapy (CBT) ukuze bancede bakhe ukuzithemba kwabo.

Abantu abane-Waardenburg Syndrome baphila ubomi obuqhelekileyo . Akukho nyango loku, kodwa iimpawu zinokulawulwa kwaye abantu banokuphila ubomi obuhle.

Ndifanele ndimbone nini ugqirha?

Ukuba iimpawu zakho zenza kube nzima ukwenza imisebenzi yemihla ngemihla, ingakumbi ukuba unengxaki yokuva , okanye ukuba uneengxaki ezifana nokuqunjelwa rhoqo , qiniseka ukuba ubona ugqirha.

Ndingayibuza yiphi imibuzo ugqirha?

Xa usiya kugqirha, ungabuza imibuzo efana nale:

• Ngaba kufuneka ndisebenzise isixhobo sokuncedisa ukuva?
• Ngaba kufuneka ndityandwe ukuze ndiphucule ukuva kwam?
• Ndingalukhusela njani ulusu lwam elangeni?
• Ukuba nditshintsha umbala weenwele zam, ndingazidaya na iinwele zam?

Okokugqibela, yintoni ekufuneka uyikhumbule (Umyalezo Wokuya Ekhaya)

Nangona usenokuba notshintsho oluthile kwindlela obonakala ngayo ngenxa ye-Waardenburg Syndrome, ezo zinto zezona zikwenza ube ngumntu owahlukileyo . Ngamanye amaxesha, ingakumbi ebantwaneni, ukuba ezi mpawu zikwenza uzive ungakhululekanga, kungcono ukuthetha nomcebisi wezempilo yengqondo ukuze umncede akhe ukuzithemba . Ukuba umntwana wakho ufunyaniswe ene-Waardenburg Syndrome, jonga amanyathelo akhe okukhula ngokusondeleyo ebuntwaneni bakhe bonke. Oku kuya kunceda ukuqinisekisa ukuba iimpawu azichaphazeli uphuhliso lwakhe lwengqondo okanye amandla akhe okukhula kakuhle. Ungakhathazeki, ngeengcebiso zonyango ezifanelekileyo kunye nenkxaso, unokuphila ngempumelelo nale meko!

I- Waardenburg Syndrome, izifo zemfuza, utshintsho lombala wolusu, utshintsho lombala weenwele, utshintsho lombala wamehlo, ukukhubazeka kokuva, ukulahlekelwa kukuva okuzelweyo