Ingabe nawe unenkinga yokungezwa kahle ngenxa yokushintsha kwesikhumba, izinwele, nombala wamehlo? Ake sixoxe ngalokhu (i-Waardenburg Syndrome)!

Ngezinye izikhathi kungenzeka ukuthi uke waphawula ukuthi phakathi kwabantu bakithi, kunabantu ababenezinwele ezimhlophe kusukela ebuntwaneni, noma abantu abaneso elilodwa eliluhlaza okwesibhakabhaka nelinye elinsundu. Abanye abantu banezinkinga zokuzwa kusukela ebuntwaneni. Ngezinye izikhathi kungase kube nesizathu sofuzo ngemuva kwezinto ezinjalo esingazazi. Leso yisimo esikhethekile esizokhuluma ngaso namuhla (i-Waardenburg Syndrome) . Ungesabi, sizokhuluma ngalokhu kalula, ngendlela ongayiqonda.

Iyini i-Waardenburg Syndrome? Kalula nje...

Kulungile, manje ake sibone ukuthi iyini le (i-Waardenburg Syndrome). Lesi yisimo sofuzo . Okusho ukuthi, sibangelwa ushintsho kumajini emzimbeni wethu. Ukuze sibe nembile, lesi simo singashintsha umbala (ukuguqulwa kwesikhumba) kwezinwele zakho, amehlo, kanye nesikhumba . Akukhona lokho kuphela, kodwa abanye abantu bangase babe nokukhubazeka kokuzwa ngenxa yalokhu. Kunezinhlobo ezine eziyinhloko zalesi sifo (i-Waardenburg Syndrome). Lezi zinhlobo zibangelwa izinguquko ezahlukene (ukuguqulwa kwezakhi zofuzo) kumajini ayisithupha. Uhlobo ngalunye lunezici ezithile ezihlukile.

Ubani othola i-Waardenburg Syndrome?

Njengoba lesi kuyisimo sofuzo, singathinta noma ubani. Ngokuvamile, ingane izuza ifa lesi sifo kumama noma kuyise. Ngokwezokwelapha, lokhu kubizwa ngokuthi ifa elithi "autosomal dominant" . Kuleso simo, umzali onikeza lesi sici uvame ukuba nalesi simo. Cabanga nje, uma umama noma ubaba enalezi zici, ingane nayo ingazithola.

Kodwa-ke, ngezinye izikhathi i-Waardenburg Syndrome type II kanye ne-IV ingadluliselwa njenge-gene ``autosomal recessive`` . Lokhu kusho ukuthi bobabili abazali kumele babe ngabathwali be-gene ethintekile, kodwa abanazo izimpawu. Kodwa-ke, uma bobabili abazali bedlulisela i-gene enganeni yabo, ingane ingaba nalesi simo.

Akuvamile kakhulu, lesi simo singakhula kumuntu ongenawo umlando womndeni, ngenxa yokuguquka kwezakhi zofuzo okusha.

Kuvamile kangakanani lokhu?

I-Waardenburg Syndrome ithinta cishe umuntu oyedwa kubantu abangu-40,000 . Iphinde ibe yimbangela yokulahlekelwa ukuzwa okubangelwa ukuzalwa okungu-2% no-5%.

I-Waardenburg Syndrome iwuthinta kanjani umzimba wami?

Ukuguquka kwezakhi zofuzo okubangela lokhu kungathinta ukuzwa kwakho. Abanye abantu banokuzwa okuvamile, kodwa abanye bazalwa benokulahlekelwa okukhulu kokuzwa (ukuzalwa). Lezi zakhi zofuzo zingashintsha nokubukeka kwamehlo akho, isikhumba, nezinwele . Ungase ube namehlo amabili noma ngaphezulu anemibala ehlukene. Lesi simo singabangela ukuthi ezinye izindawo zesikhumba sakho zibe lula kunezinye, izinwele zakho zishintshe umbala, nezinwele zakho zibe mpunga, ikakhulukazi usemncane kakhulu .

Ziyini izimpawu ze-Waardenburg Syndrome?

Izimpawu zalesi sifo ziyahlukahluka kumuntu nomuntu. Zingahluka ngisho nangaphakathi komndeni ofanayo. Izimpawu eziyinhloko ukulahlekelwa ukuzwa kanye nombala wezinwele, isikhumba, namehlo. Ngaphezu kwalokho, kunezimpawu ezithile kuye ngohlobo lwe-Waardenburg Syndrome. Isibonelo, kuhlobo 1, kukhona ukwanda kwebanga phakathi kwamehlo, kuhlobo 3, ukukhubazeka ezandleni naseminweni, kanti kuhlobo 4, isifo samathumbu esibizwa ngokuthi isifo se-Hirschsprung .

Ukukhubazeka kokuzwa

Abanye abantu abane-Waardenburg Syndrome bangase babe nokulahlekelwa ukuzwa okuphakathi kuya kokubi kakhulu endlebeni eyodwa noma zombili. Kodwa-ke, kwezinye izimo, ukuzwa kungase kungathinteki nhlobo. Lokhu kulahlekelwa ukuzwa kungokwemvelo .

Izimpawu zokushintsha umbala

I-Waardenburg Syndrome ingabangela izinguquko ezinweleni zakho, esikhumbeni, nasembala wamehlo, njenge:

• Amehlo aluhlaza okwesibhakabhaka akhanya kakhulu.
• Unamehlo amabili anemibala emibili. Cabanga nje, elinye liluhlaza okwesibhakabhaka kanti elinye linsundu.
• I-Heterochromia irides ukushintsha kombala engxenyeni enombala yeso (iris) ngisho nangaphakathi kweso elifanayo.
• Ukuba khona kwe -tuft emhlophe noma i-tuft yezinwele ezinweleni, ngokuvamile ngaphezu kwebunzi (i-forelock).
• Ukuphuka kwezinwele usemncane kakhulu.
• Ukuba namabala noma amabala esikhumbeni alula kunezinye izindawo (i-congenital leukoderma) .

Yiziphi izinhlobo ze-Waardenburg Syndrome?

Kunezinhlobo ezine eziyinhloko ze-Waardenburg Syndrome. Udokotela uzohlonza lolu hlobo ngokusekelwe ezimpawini zakho.

• Uhlobo I: Ibanga eliphakathi kwamehlo libanzi kakhulu, kanti ibhuloho lekhala libanzi.
• Uhlobo II: Ukulahlekelwa ukuzwa okuphakathi kuya kokubi kakhulu.
• Uhlobo III - Lubizwa nangokuthi "i-Klein-Waardenburg syndrome": ukulahlekelwa ukuzwa, ukushintsha kombala wesikhumba, kanye nokukhubazeka ekukhuleni kwamathambo ezandla neminwe.
• Uhlobo IV - Olwaziwa nangokuthi i-Waardenburg-Shah syndrome: Kanye nazo zonke ezinye izici ze-Waardenburg syndrome, kuphinde kube nesimo esibizwa ngokuthi isifo se-Hirschsprung . Lokhu kungabangela ukuqunjelwa okukhulu noma ukuvaleka kwamathumbu.

Kulezi, izinhlobo I kanye no-II yizona ezivame kakhulu. Izinhlobo III kanye no-IV azivamile kakhulu.

Yiziphi izimbangela ze-Waardenburg Syndrome?

I-Waardenburg Syndrome ibangelwa ukuguquka kwezakhi zofuzo okukodwa noma ngaphezulu kwalokhu okulandelayo:

• `(EDN3)` (yohlobo lwe-IV)
• `(EDNRB)` (yohlobo IV)
• `(MITF)` (yohlobo II)
• `(PAX3)` (yezinhlobo I kanye ne-III)
• `(SNAI2)` (yohlobo II)
• `(SOX10)` (yohlobo IV)

Lezi zakhi zofuzo yizo ezidala izinhlobo ezahlukene zamaseli emzimbeni wethu. Phakathi kwazo, uhlobo olukhethekile lwamaseli olubizwa ngokuthi ``melanocytes`` lwakhiwe ngala maseli. Lawa maseli akhiqiza umbala ``melanin pigment`` onikeza umbala esikhumbeni sethu, ezinweleni nasemehlweni ethu.Ngaphezu kokukhiqiza imibala, la maseli aphinde abe negalelo ekusebenzeni kwengxenye engaphakathi yendlebe yethu. Ngakho-ke, uma kukhona ushintsho kunoma yiliphi lala ma-gene, lungabangela lezi zimpawu.

Itholakala kanjani i-Waardenburg Syndrome?

Udokotela wengane yakho cishe uzoxilonga i-Waardenburg Syndrome lapho izalwa noma ngesikhathi isencane . Bazokwenza ukuhlolwa ngokomzimba ukuze babheke izimpawu kanye nomlando wezokwelapha womndeni wakho. Udokotela wakho angase futhi ancome ukuhlolwa kwezakhi zofuzo ukuqinisekisa ukuxilongwa kanye nokubheka ezinye izimpawu ezihlobene nalesi simo, njenge:

• Ukuhlolwa kwamehlo.
• Ukuhlolwa kokuzwa .
• Kuye ngohlobo lwezimpawu, ukuhlolwa kwezithombe kungenziwa endlebeni yangaphakathi, ezandleni naseminweni, noma emathunjini.

Yelashwa kanjani i-Waardenburg Syndrome?

Akuzona zonke izinhlobo ze-Waardenburg Syndrome ezidinga ukwelashwa. Kodwa-ke, uma kukhona izimpawu, zelashwa njengoba kudingeka. Isibonelo:

• Ukusebenzisa izinsiza zokuzwa noma ukuhlinzwa kwe-cochlear implant ngenxa yokukhubazeka kokuzwa.
• Ukusebenzisa isithako sokuvikela ilanga ukuvikela izindawo ezinezinguquko zombala wesikhumba elangeni .
• Uma unesifo sokuqunjelwa (ikakhulukazi uhlobo lwesine), thatha imithi noma ukudla ukudla okune-fiber eningi .
• Ukuhlinzwa kokususa noma ukulungisa ingxenye yamathumbu evinjiwe (uhlobo IV).
• Ukusebenzisa ama-lotion noma amafutha okugcoba ukuze kugcinwe impilo yesikhumba.

Ingabe i-Waardenburg Syndrome ingavinjelwa?

Njengoba lokhu kubangelwa ukuguquka kwezakhi zofuzo, ayikho indlela yangempela yokukuvimbela . Kodwa-ke, uma ufuna ukwazi ingozi yakho yokuba nengane enesifo sofuzo, ungakhuluma nodokotela mayelana nokwelulekwa nokuhlolwa kwezakhi zofuzo .

Yini okufanele ngiyilindele uma ingane yami ine-Waardenburg Syndrome?

Uma ingane yakho itholakale ine-Waardenburg Syndrome, kubalulekile ukuthi ihlolwe njalo ukuzwa kuyo yonke impilo yayo. Lokhu kungabandakanya ukubona udokotela noma udokotela wezindlebe. Lokhu kungenxa yokuthi izinkinga zokuzwa ezenzeka ebuntwaneni zingalibazisa izigaba zokukhula futhi zithinte intuthuko yokuqonda . Kodwa-ke, abantu abanalesi simo bavame ukuzuza ngokufakelwa kwe-cochlear kanye nezinsiza zokuzwa .

Into ebaluleke kakhulu ukuhlonza ukulahleka kokuzwa kwengane yakho kusenesikhathi bese unikeza usizo oludingekayo.

Izinwele, amehlo, nombala wesikhumba sengane yakho kungase kuyenze izizwe ingakhululekile futhi ihlukile kontanga bayo. Ezimweni ezinjalo, ezinye izingane ziyazuza emasu okwelulekwa ngokwengqondo njengokwelashwa kokuziphatha kwengqondo (i-CBT) ukuze zibasize bakhe ukuzethemba kwabo.

Abantu abane-Waardenburg Syndrome baphila impilo evamile . Akukho ukwelashwa kwalokhu, kodwa izimpawu zingalawulwa futhi abantu bangaphila impilo enhle.

Kufanele ngimbone nini udokotela?

Uma izimpawu zakho zenza kube nzima ukwenza imisebenzi yansuku zonke, ikakhulukazi uma unenkinga yokuzwa , noma uma unezinkinga ezifana nokuqunjelwa njalo , qiniseka ukuthi ubona udokotela.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Uma uya kudokotela, ungabuza imibuzo efana nale:

• Ingabe ngidinga ukusebenzisa insiza yokuzwa?
• Ingabe ngidinga ukuhlinzwa ukuze ngithuthukise ukuzwa kwami?
• Ngingavikela kanjani isikhumba sami elangeni?
• Uma ngishintsha umbala wezinwele, ngingayidaya yini izinwele zami?

Okokugcina, okufanele ukukhumbule (Umyalezo Wokuya Ekhaya)

Nakuba ungase ube nezinguquko ezithile ekubukekeni kwakho ngenxa ye-Waardenburg Syndrome, lezo zinto yizo ezikwenza uhluke . Ngezinye izikhathi, ikakhulukazi ezinganeni, uma lezi zimpawu zikwenza uzizwe ungakhululekile, kungumqondo omuhle ukukhuluma nomeluleki wezempilo yengqondo ukuze amsize akhe ukuzethemba kwakhe . Uma ingane yakho itholakale ine-Waardenburg Syndrome, qapha izinyathelo zayo zokukhula eduze phakathi nobuntwana bayo. Lokhu kuzosiza ukuqinisekisa ukuthi izimpawu azithinti intuthuko yayo yengqondo noma ikhono layo lokukhula kahle. Ungakhathazeki, ngeseluleko sezokwelapha esifanele kanye nokusekelwa, ungaphila ngempumelelo nalesi simo!

I- Waardenburg Syndrome, izifo zofuzo, ukushintsha kombala wesikhumba, ukushintsha kombala wezinwele, ukushintsha kombala wamehlo, ukukhubazeka kokuzwa, ukulahlekelwa ukuzwa okuzalwe nakho