Ukuthi yini i-Epidermolysis Bullosa? Izimpawu, Izimbangela, kanye Nokwelashwa

I-Epidermolysis bullosa (EB) iyisimo esingavamile sezofuzo esenza ukuba isikhumba sakho sibe buthakathaka kakhulu futhi sibe lula ukuqhuma. Ngisho nokubamba kancane, ukusuleka, noma ukulimala okuncane kungabangela amaqhubu nokulimala okuhlungu esikhumbeni sakho, futhi ngezinye izikhathi ngaphakathi komzimba wakho.

Cabanga ngakho njengokuba nesikhumba esibuthakathaka njengephepha lethusi. Nakuba lesi simo sihlupha abantu ngezindlela ezahlukene, into ehlangene ukuthi isikhumba sakho asibi nazo izinto ezinamandla ezidingekayo ukubopha izigaba zalo ndawonye kahle. Lokhu kwenza imisebenzi yansuku zonke ibe nzima, kodwa ngokunakekelwa okuhle nokusekelwa, abantu abaningi abane-EB baphila ukuphila okuhlangabezana nezidingo zabo.

Ziyini izimpawu ze-epidermolysis bullosa?

Isimpawu esiyinhloko ukuqhuma okuvela kalula kakhulu kunokufanele. La maqhubu angabonakala kuphi na emzimbeni wakho, ngokuvamile ezindaweni lapho izingubo zicindezela khona noma lapho uhlangabezana khona nokusuleka kwansuku zonke.

Nazi izimpawu ezivame kakhulu ongazibona:

• Amaqhubu ezandleni, ezinyaweni, emadolweni, nasezinzwini ezivela emisebenzini evamile
• Isikumba esibuthakathaka esiqhekeka noma siqhuma ngokuthinta okuncane
• Amaqhubu ngaphakathi emlonyeni, ehlombe, noma esiswini
• Isikumba esiqinile, esiqinile ezandleni nasezinzwini
• Ukuqhekeka ngemuva kokwelapha amaqhubu
• Izinzipho nezinzipho zezinyawo eziyize noma ezonakele
• Izinkinga zamahlombe njengokuqhekeka kwamazinyo noma ukungabi kahle kwesikhumba samazinyo

Ezimweni ezinzima, ungase uhlangabezane namaqhubu esifundeni sakho sokuhlanza okwenza ukugwinya kube nzima, noma izinkinga zamehlo ezihlupha umbono wakho. Abanye abantu baphuthuma ukungabi nama-hemoglobin ngenxa yokulimala okuqhubekayo nezinqubo zokwelapha.

Izimpawu zivame ukuvela ebuntwaneni noma ebuntwaneni, nakuba izinhlobo ezilula zingase zingabonakali kuze kube kamuva ekuphileni. Isipiliyoni somuntu ngamunye sihlukile, futhi izimpawu zingase zihluke kusuka ekuqhubeni okuncane okungavamile kuya ezingxakeni ezinkulu zansuku zonke.

Ziyini izinhlobo ze-epidermolysis bullosa?

Kunezinhlobo ezine eziyinhloko ze-EB, ngayinye ihlupha izigaba ezahlukene zesikhumba sakho. Ukuqonda ukuthi yiluphi uhlobo olukuyo kusiza odokotela ukuba banikeze ukunakekelwa okufanele kakhulu nelenqubo yokwelapha.

I-Epidermolysis Bullosa Simplex (EBS) iyinhlobo evamile futhi evame ukuba lula. Amaqhubu akha esigabeni esiphezulu sesikhumba futhi ngokuvamile aphulukana ngaphandle kokwelapha. Ungase uqaphele ukuqhuma okuningi ngesikhathi sezulu elifudumele noma ngemisebenzi eyengeziwe.

I-Dystrophic Epidermolysis Bullosa (DEB) ihlupha izigaba ezijulile zesikhumba futhi ngokuvamile iholela ekuqhekekeni. Lolu hlobo lungabangela ukubopha kwezinzipho nezinzipho zezinyawo ngokuhamba kwesikhathi, futhi lungase luhlanganise amalungu angaphakathi njengesifundiso sokuhlanza.

I-Junctional Epidermolysis Bullosa (JEB) ithuthukiswa esigabeni esixhumanisa izingxenye eziphezulu nezansi zesikhumba sakho. Lolu hlobo lungase luhluke kusuka okulula kuya kokunzima, ngezinye izinhlobo eziyingozi ekuphileni ebuntwaneni.

I-Kindler Syndrome iyinhlobo engavamile, ihlanganisa izici zezinye izinhlobo. Abantu abane lesi simo bavame ukuba nokuzwela okukhulu ekukhanyeni kwelanga futhi bangase bathuthukise ukuguquka kwesikhumba okuhlobene nokuqina kwesikhumba.

Yini ebangela i-epidermolysis bullosa?

I-EB ivela ngenxa yokuguquka (ukuguqulwa) ku-genes ezenza amaprotheni abhekene nokuhlanganisa izigaba zesikhumba sakho ndawonye. La maprotheni asebenza njengensika noma izibopho, futhi uma angasebenzi kahle, isikhumba sakho sibe buthakathaka.

Lesi yisimo esidluliselwa ezizukulwaneni, okusho ukuthi sidluliselwa kubazali kubantwana nge-genes. Noma kunjalo, iphethini yokudluliselwa ihluke kuye ngohlobo lwe-EB olukuyo.

Izinhlobo eziningi zilandela lokho odokotela abakubiza ngokuthi "ukudluliselwa okuhlukanisayo kwe-autosomal". Lokhu kusho ukuthi womabili abazali kufanele babe ne-gene eguqukile ukuze umntwana wabo athuthukise i-EB. Abazali abaphethe ikhophi elilodwa ngokuvamile abanazo izimpawu, kodwa bangadlulisela lesi simo kubantwana babo.

Ezinye izinhlobo zilandela ukudluliselwa okuhlukanisayo kwe-autosomal, lapho umzali oyedwa kuphela odingeka abe ne-gene eguqukile. Ezimweni ezingavamile, i-EB ingase ivela njengokuguquka okusha kwe-gene, okusho ukuthi akekho umzali onalesi simo noma ophethe i-gene.

Nini kufanele ubona udokotela nge-epidermolysis bullosa?

Kufanele ubona udokotela uma wena noma umntanakho enamaqhubu abonakala kalula kakhulu noma ngaphandle kwesizathu esicacile. Lokhu kubaluleke kakhulu uma amaqhubu evela ngokuthinta okuncane noma ngemisebenzi yansuku zonke.

Funani ukunakekelwa kwezokwelapha ngokushesha uma uqaphela amaqhubu ngaphakathi emlonyeni noma ehlombe okwenza ukudla noma ukuphuza kube nzima. Qaphela futhi izimpawu zokutheleleka ezindaweni ezolile, njengokwanda kokubomvu, ukushisa, ukukhula, noma i-pus.

Uma unomlando womndeni we-EB futhi uhlela ukuba nezingane, ukwelulekwa kwe-gene kungakusiza ukuqonda ingozi nezindlela ezitholakalayo. Ukuxilongwa kwasekuqaleni nokukhathalela okuhle kokwelapha kwenza umehluko omkhulu ekulawuleni lesi simo ngokuphumelelayo.

Ungalindi uma uqaphela ukuthi amaqhubu aphulukana kancane, etholakala njalo, noma uma lesi simo sihlupha ikhono lakho lokudla, ukuphuza, noma ukwenza imisebenzi yansuku zonke. Ukukhathalela okukhethekile kungasiza ukuvimbela izinkinga nokuthuthukisa ikhwalithi yempilo.

Ziyini izinto ezingozi ze-epidermolysis bullosa?

Into eyingozi eyinhloko ukuba nabazali abaphethe ukuguquka kwe-gene okubangela i-EB. Njengoba lesi yisimo esidluliselwa ezizukulwaneni, umlando womndeni wakho udlala indima ebaluleke kakhulu ekuqondeni ingozi yakho.

Uma bobabili abazali bephethe i-gene ehlukanisayo ye-EB, ukukhulelwa ngakunye kunenzuzo engu-25% yokuthi kuvele ingane enalesi simo. Uma umzali oyedwa enesimo esiphezulu se-EB, ingane ngayinye inenzuzo engu-50% yokuthola lesi simo.

Ukuba nabazalwane noma abanye abantu abaseduze abane-EB kukhuphula amathuba okuba ungumthwali noma ube nalesi simo. Noma kunjalo, kufanele kuqaphele ukuthi i-EB ngezinye izikhathi ingase ivela njengokuguquka okusha kwe-gene, ngisho nasemikhayeni engenamlando wangaphambili.

Izizwe ezithile zingase zibe namanani aphezulu kancane ezinhlobo ezithile ze-EB, kodwa lesi simo singathinta abantu banoma yiluphi uhlanga noma ubuzwe. Ubunzima nohlobo lwe-EB oyithola kuye ngokuguquka kwe-gene okuthile okudluliselwa kubazali bakho.

Ziyini izinkinga ezingase zenzeke nge-epidermolysis bullosa?

Nakuba abantu abaningi abane-EB balawula lesi simo kahle, ezinye izinkinga zingase zivele ngokuhamba kwesikhathi. Ukuqonda lezi zinto ezingase zenzeke kukusiza ukusebenzisana neqembu lakho lokukhathalela impilo ukuze uzivimbele noma uzixazulule ekuqaleni.

Nazi izinkinga ezingase zenzeke:

• Ukulimala okuqhubekayo okuphulukana kancane futhi okutholakala kalula
• Ukuqhekeka okungase kuvimbele ukunyakaza, ikakhulukazi ezinhlanganweni
• Ukubopha kwezinzipho noma izinzipho zezinyawo (pseudosyndactyly)
• Ukunciphisa kwesifundiso sokuhlanza, okwenza ukugwinya kube nzima
• Ukungabi nama-hemoglobin ngenxa yokulahleka kwegazi okuqhubekayo nokondleka okungafanele
• Izinkinga zezinkulungwane kwezinye izinhlobo ezinzima
• Izinkinga zamehlo kufaka phakathi ukuqhekeka kwe-cornea
• Ukungozi okukhulu yomdlavuza wesikhumba ezindaweni ezihluphekayo kakhulu

Izinselele zokondleka zivame ukuvela ngoba ukudla kungase kube buhlungu uma amaqhubu evela emlonyeni noma ehlombe. Lokhu kungabangela ukwehla kwesisindo, ukwanda kokukhula kubantwana, nokuntuleka kwezinto ezibalulekile zevithamini naminerali.

Ezimweni ezingavamile, izinhlobo ezinzima ze-EB zingabangela izinkinga ezingozi ekuphileni ebuntwaneni. Noma kunjalo, ngokunakekelwa kwezokwelapha okuhle nokusekelwa, izinkinga eziningi zingavikelwa noma ziphathwe kahle.

I-epidermolysis bullosa ixilongwa kanjani?

Odokotela ngokuvamile bayaxilonga i-EB ngokuhlola isikhumba sakho nokuthatha umlando wezokwelapha onemininingwane. Bazobheka iphethini yokuqhuma futhi babuze ngesikhathi izimpawu ezazivela ngaso kanye nokuthi yini ezibangela.

Ukukhipha isikhumba kuvame ukudingeka ukuze kuqinisekiswe ukuxilongwa nokubona ukuthi yiluphi uhlobo lwe-EB olukuyo. Ngalesi senzo, udokotela wakho ukhipha isampula encane yesikhumba futhi ayihlole ngaphansi kwama-microscope akhethekile ukuze abone ukuthi ukwahlukaniswa kwesikhumba kwenzeka kuphi.

Ukuhlolwa kwe-gene kungabonisa ukuguquka kwe-gene okuthile okubangela i-EB yakho. Lolu lwazi lusiza ukubikezela ukuthi lesi simo singase siqhubeke kanjani futhi luqondise izinqumo zokwelapha. Kubalulekile futhi ekuhleleni komndeni nasekwelulekeni kwe-gene.

Udokotela wakho angase futhi enze ukuhlolwa kwegazi ukuze ahlole ukungabi nama-hemoglobin noma ukondleka okungafanele. Uma unezinkinga zokugwinya, bangase bancoma izifundo zokwenza izithombe ukuze bahlole isifundiso sokuhlanza ne-digestive tract yakho.

Yini ukwelashwa kwe-epidermolysis bullosa?

Nakuba ayikho indlela yokwelapha i-EB okwamanje, ukwelashwa kugxile ekuvikeleni isikhumba sakho, ekulawuleni izimpawu, nasekuvimbeleni izinkinga. Umgomo ukukusiza ukuba uphile ngokunethezeka nangokusebenza ngangokunokwenzeka.

Ukukhathalela okulimala kuyisisekelo sokwelapha i-EB. Lokhu kuhlanganisa ukuhlanza amaqhubu nokulimala ngobumnene, ukufaka izembatho ezikhethekile, nokusebenzisa amasu athuthukisa ukwelapha ngesikhathi sokuvimbela ukutheleleka.

Nazi izindlela eziyinhloko zokwelapha:

• Izembatho zokwelapha ezikhethekile ezinganamatheli esikhumbeni esibuthakathaka
• Imikhiqizo yokunakekela isikhumba ebuthakathaka namasu
• Ukulawula ubuhlungu ngemithi efanele
• Ukusekelwa kokondleka ukuze kulondolozwe ukukhula okuhle nokwelapha
• I-physiotherapy ukuze kulondolozwe ukunyakaza nokuvimbela ukuqhekeka
• Ama-antibiotics uma kutheleleka
• Ukuhlinzwa kwezinkinga ezinzima njengokunciphisa kwesifundiso sokuhlanza

Iqembu lakho lokukhathalela impilo lingase lihlanganise odokotela besikhumba, ochwepheshe bokukhathalela okulimala, ochwepheshe bokondleka, kanye nochwepheshe be-physiotherapy. Bazosebenzisana ndawonye ukwakha uhlelo lokukhathalela oluphelele olufanele izidingo zakho ezikhethekile nohlobo lwe-EB.

Ukwelashwa okusha kuyaqhubeka ucwaningo, kufaka phakathi i-gene therapy kanye ne-protein replacement therapy. Nakuba lokhu kungatholakali okwamanje, kunikeza ithemba lokwelashwa okuphumelelayo ngokwengeziwe esikhathini esizayo.

Ungalawula kanjani i-epidermolysis bullosa ekhaya?

Ukukhathalela kwansuku zonke ekhaya kudlala indima ebalulekile ekulawuleni i-EB ngokuphumelelayo. Ngamathuluzi nemishini efanele, unganciphisa ukuqhuma futhi usize okulimala kuphele ngokushesha.

Ukukhathalela isikhumba ngobumnene kubalulekile. Sebenzisa amanzi afudumele ukugeza bese uthinta isikhumba sakho siwome kunokukusula. Khetha izingubo ezithambile, eziqondile futhi ugweme izinto ezingase zibangele ukusuleka noma ukuvuvukala.

Nansi indlela ongakunakekela ngayo wena noma othandekayo wakho onale EB ekhaya:

• Gcina izinzipho ezimfushane kakhulu futhi zibuthakathaka ukuze uvimbele ukukroba
• Sebenzisa i-padding noma i-cushioning ezindaweni ezivame ukuqhuma
• Faka izinto ezithambisayo ukuze ugcine isikhumba sibuthakathaka futhi singase siqhekeke
• Shintsha izembatho zokwelapha njalo usebenzisa indlela ehlanzekile
• Hlola okulimala izimpawu zokutheleleka njengokwanda kokubomvu noma i-pus
• Londoloza ukondleka okuhle ukuze usekele ukwelapha
• Hlala uthambile ukuze usize isikhumba sakho sihlale siphilile

Ukudala indawo ephephile ekhaya kusiza ukuvimbela ukulimala okungadingekile. Susa izinkinobho ezibukhali, sebenzisa izinto ezithambile, futhi uqinisekise ukukhanya okwanele ukuze ugweme ukugqugquzela nokuwa okungabangela amaqhubu amasha.

Ungangabazi ukuxhumana neqembu lakho lokukhathalela impilo uma unemibuzo noma ukukhathazeka ngokunakekela okulimala. Bangakunikeza isiqondiso esithile futhi balungise uhlelo lwakho lokukhathalela njengoba kudingeka.

Kufanele ulungiselele kanjani i-aphoyintimenti yakho nodokotela?

Ukulungiselela i-aphoyintimenti yakho kusiza ukuqinisekisa ukuthi uthola izinzuzo eziningi ngesikhathi sakho neqembu lokukhathalela impilo. Letha uhlu lwezimpawu zamanje, imithi, nanoma yimiphi imibuzo ofuna ukuyixoxa.

Gcina idayari yesimpawu ubhale lapho amaqhubu evela khona, ukuthi yini engase iwayibangele, nokuthi aphila kanjani. Thatha izithombe zokulimala okukhathazayo noma ukuguquka kwesikhumba sakho ukuze ubonise udokotela wakho.

Bhala yonke imithi nokwelashwa okusebenzisayo okwamanje, kufaka phakathi imikhiqizo yokuthengwa ngaphandle komthetho kanye nemithi yasekhaya. Lokhu kusiza udokotela wakho ukuqonda ukuthi yini esebenzayo nokuthi yini edinga ukulungiswa.

Lungisa imibuzo mayelana nokukhathalela kwansuku zonke, ukumisa imisebenzi, nokuthi nini kufanele ufunane ukunakekelwa okusheshayo. Buza ngezinsiza zemishini, amaqembu wokusekela, nochwepheshe abangase basize esimweni sakho esithile.

I-epidermolysis bullosa ingavikelwa kanjani?

Njengoba i-EB iyisimo sezofuzo, ayikwazi ukuvinjelwa ngendlela evamile. Noma kunjalo, ukwelulekwa kwe-gene kungasiza imindeni ukuqonda ingozi yabo futhi enze izinqumo ezilwemi ngokuba nezingane.

Uma une-EB noma uphethe i-genes yayo, abaluleki be-gene bangachaza amathuba okudlulisela lesi simo kubantwana bakho. Bangase futhi baxoxe ngezinketho ezifana nokuhlolwa kwangaphambi kokukhulelwa noma amasu okusizwa kokuzala.

Kwabantu abasene-EB kakade, ukuvimbela kugxile ekuqedeni amaqhubu amasha nezinkinga. Lokhu kusho ukuvikela isikhumba sakho ekubeni lilimale, ukugcina ukondleka okuhle, nokulandelwa uhlelo lwakho lokukhathalela njalo.

Ukungenelela kwasekuqaleni nokukhathalela okuhle okulimala kungavimbela izinkinga eziningi ezihambisana ne-EB. Ukuhlolwa okuvamile neqembu lakho lokukhathalela impilo kusiza ukubamba nokuxazulula izinkinga ngaphambi kokuba zibe nzima.

Yini okufanele uyikhumbule mayelana ne-epidermolysis bullosa?

I-EB iyisimo esinzima esidinga ukunakekelwa okuqhubekayo nokunakekelwa, kodwa abantu abaningi abane-EB baphila ukuphila okuhlangabezana nezidingo zabo. Okubalulekile ukusebenzisana nochwepheshe abanolwazi lokukhathalela impilo nokufunda amasu okuzinakekela ngokuphumelelayo.

Nakuba ayikho indlela yokwelapha okwamanje, ucwaningo luyaqhubeka luthuthukisa ukuqonda kwethu nezindlela zokwelapha. Ukwelashwa okwamanje kungathuthukisa kakhulu ikhwalithi yempilo futhi kuvimbele izinkinga eziningi uma kusetshenziswa njalo.

Khumbula ukuthi i-EB ihlupha wonke umuntu ngokuhlukile. Okusebenza komunye umuntu kungase kudinge ukulungiswa komunye, ngakho-ke hlala uxhumana neqembu lakho lokukhathalela impilo ukuze uthuthukise uhlelo lwakho lokukhathalela.

Xhumana nezinhlangano zokusekela i-EB namanye imindeni ehlupheka yilesi simo. Bangakunikeza amathiphu asebenzayo, ukusekelwa ngokomzwelo, kanye nokuvuselelwa kwocwaningo olusha nokwelashwa okungase kukusize.

Imibuzo evame ukubuzwa mayelana ne-epidermolysis bullosa

Ingabe i-epidermolysis bullosa iyadluliselwa?

Cha, i-EB ayidluliselwa nhlobo. Yisimo sezofuzo ozalwa naso, hhayi into ongayithola noma uyidlulisele kwabanye abantu. Amaqhubu nokulimala kubangelwa isikhumba esibuthakathaka, hhayi amabhaktheriya noma ama-virus angadluliselwa kwabanye.

Ingabe abantu abane-epidermolysis bullosa bangaba nezingane?

Yebo, abantu abaningi abane-EB bangaba nezingane futhi bayaba nazo. Noma kunjalo, kuneingozi yokudlulisela lesi simo kubantwana babo kuye ngohlobo lwe-EB kanye nesimo se-gene somlingani wabo. Ukwelulekwa kwe-gene ngaphambi kokukhulelwa kungakusiza ukuqonda lezi zingozi nokucwaninga izinketho zakho.

Ingabe i-epidermolysis bullosa izoba nzima ngokuhamba kwesikhathi?

I-EB ihlupha abantu ngokuhlukile kulo lonke impilo yabo. Ezinye izinhlobo zihlala zizinzile, ngenkathi ezinye zingase ziholele ekuqhekekeni okwandayo noma izinkinga ngokuhamba kwesikhathi. Noma kunjalo, ngokunakekelwa okuhle nokuphathwa kwezokwelapha, izinkinga eziningi zingavikelwa noma zinciphisiwe. Ukungenelela kwasekuqaleni nokukhathalela okuqhubekayo okulimala kwenza umehluko omkhulu emiphumeleni yesikhathi eside.

Ingabe abantu abadala bangathuthukisa i-epidermolysis bullosa kamuva ekuphileni?

I-EB yangempela ye-gene ikhona kusukela ekuzalweni, nakuba izinhlobo ezilula zingase zingaxilongwa kuze kube ubudala. Noma kunjalo, kunesimo esingavamile esibizwa nge-epidermolysis bullosa acquisita esingathuthukiswa kubantu abadala ngenxa yezinkinga ze-autoimmune kunokuba kube yizimbangela ze-gene. Lokhu kudinga izindlela zokwelapha ezihlukile kunale EB ye-gene.

Ingabe kunamisebenzi ethile abantu abane-EB okufanele bayigweme ngokuphelele?

Nakuba abantu abane-EB kudingeka baqaphele ngemisebenzi ebangela ukusuleka noma ukulimala, abaningi bangase bahlanganyele ezingxenyeni ezilungisiwe zezemidlalo nezinto abazithandayo. Ukubhukuda ngokuvamile kuyatholakala, ngenkathi imidlalo yokuxhumana ingase ibe nzima kakhulu. Sebenzisana neqembu lakho lokukhathalela impilo ukuze uthole izindlela ezifanele zokuhlala usebenza futhi uhlanganyele emisebenzini ebalulekile kuwe.