Chii Chinonzi Epidermolysis Bullosa? Zviratidzo, Zvinokonzera, & Kurapa

Epidermolysis bullosa (EB) chirwere chisingawanzoitiki chinogona kuita kuti ganda rako rive rakapfava zvikuru uye rinokurumidza kuita maronda. Kunyange kubata zvinyoro nyoro, kukwesha, kana kukuvara kudiki kunogona kukonzera maronda anorwadza uye zvikwerekuti zviumbwe paganda rako uye dzimwe nguva mukati memuviri wakowo.

Fungidzira ganda rakaita sepepa re tissue. Kunyange zvazvo chirwere ichi chinoita zvakasiyana-siyana kune vanhu, chinhu chikuru ndechekuti ganda rako harina mapuroteni akasimba anodiwa kuti aite kuti zvikamu zve ganda rirambe riri pamwe chete zvakanaka. Izvi zvinoita kuti mabasa ezuva nezuva ave akaoma, asi nekutarisirwa kwakakodzera nekutsigirwa, vanhu vakawanda vane EB vanorarama hupenyu hunofadza.

Ndeapi zviratidzo zve epidermolysis bullosa?

Chiratidzo chikuru ndechekuita maronda nyore nyore kupfuura zvaifanira. Aya maronda anogona kuoneka chero kupi zvako mumuviri wako, kazhinji munzvimbo dzakapfeka zvipfeko kana kwaunonzwa kukwesha kwezuva nezuva.

Heano mamwe ezviratidzo zvaunogona kuona:

• Maronda pamaoko, tsoka, mazamu, uye magaro kubva kumabasa ezuva nezuva
• Ganda rakapfava rinopwanya kana kubuda ropa nekubata kushoma
• Maronda mukati memukanwa, muhuro, kana mudumbu
• Ganda rakaoma, rakaoma pamaoko nematsoka
• Makwapa mushure mekurapa maronda
• Misumari yeminwe nemaoko yakarasika kana yakakuvara
• Matambudziko ezino senge kuora kwemazino kana kukuvara kwe enamel

Mumagariro akaoma, unogona kuwana maronda mu esophagus ako anoita kuti kudya kuve kwakaoma, kana matambudziko emaziso anokanganisa kuona kwako. Vamwe vanhu vanowanawo anemia nekuda kwezvikwerekuti zvichangobva kurapwa.

Zviratidzo kazhinji zvinoonekwa muhucheche kana muhudiki, kunyange zvazvo zvimwe zvisingawanzoitiki zvingasave pachena kusvika gare gare muhupenyu. Chiitiko chemunhu mumwe nemumwe chinokosha, uye zviratidzo zvinogona kubva kune maronda maduku kusvika kumatambudziko makuru ezuva nezuva.

Ndeapi marudzi e epidermolysis bullosa?

Kune marudzi mana makuru eEB, imwe neimwe inokanganisa zvikamu zvakasiyana zve ganda rako. Kunzwisisa rudzi rwaunaro kunobatsira vanachiremba kupa kutarisirwa kwakakodzera uye chirongwa chekurapa.

Epidermolysis Bullosa Simplex (EBS) ndiro rudzi runowanzoitika uye kazhinji runyoro. Maronda anoita paganda repamusoro uye kazhinji anorapika pasina makwapa. Unogona kuona maronda akawanda panguva yekunaya kwemwaka kana nekuwedzera kwemabasa.

Dystrophic Epidermolysis Bullosa (DEB) inokanganisa zvikamu zvakadzika zve ganda uye kazhinji inokonzera makwapa. Rudzi urwu runogona kukonzera minwe nematsoka kusungana pamwe chete nekufamba kwenguva, uye zvinogona kusanganisira nhengo dzemukati senge esophagus.

Junctional Epidermolysis Bullosa (JEB) inoitika muchikamu chinobatanidza zvikamu zvepamusoro nepazasi peganda rako. Rudzi urwu runogona kubva parunyororo kusvika pakaoma, nemamwe marudzi ari ngozi muhucheche.

Kindler Syndrome rudzi rusingawanzoitiki, rinosanganisa zviratidzo zvemamwe marudzi. Vanhu vane rudzi urwu kazhinji vane kusagadzikana kwezuva uye vanogona kuita shanduko dze ganda dzinoita sekukwegura kwemberi.

Chii chinokonzera epidermolysis bullosa?

EB inoitika nekuda kwekuchinja (mutations) mumajini anoita mapuroteni anoita kuti zvikamu zve ganda rirambe riri pamwe chete. Aya mapuroteni anoita seglue kana zvinhu zvinosunga, uye kana asingashandi zvakanaka, ganda rako rinova rakapfava.

Ichi chirwere chinogona kuwanikwa kubva kuvabereki, zvinoreva kuti chinopfuudzwa kubva kuvabereki kuvana kuburikidza nemajini. Zvisinei, nzira yekupfuudzwa inosiyana zvichienderana nerudzi rweEB raunaro.

Marudzi mazhinji anotevera zvinonzi nachiremba kuti "autosomal recessive" inheritance. Izvi zvinoreva kuti vabereki vese vanofanira kuve nejeni rachinja kuti mwana wavo awane EB. Vabereki vane kopi imwe chete kazhinji havaiti zviratidzo asi vanogona kupfuudza chirwere kuvana vavo.

Mamwe marudzi anotevera "autosomal dominant" inheritance, umo mubereki mumwe chete anoda kuva nejeni rachinja. Muzviitiko zvisingawanzoitiki, EB inogona kuitika sechishanduko chitsva chejeni, zvinoreva kuti hapana mubereki ane chirwere kana ane jeni racho.

Rini unofanira kuona chiremba nekuda kwe epidermolysis bullosa?

Unofanira kuona chiremba kana iwe kana mwana wako akaita maronda anoita sekunge ari kuoneka nyore nyore kana pasina chikonzero chakajeka. Izvi zvinokosha kana maronda akaitika nekubata zvinyoro nyoro kana mabasa ezuva nezuva.

Tsvaga rubatsiro rwekurapa nekukurumidza kana ukaona maronda mukati memukanwa kana muhuro anoita kuti kudya kana kunwa kuve kwakaoma. Tarisawo zviratidzo zvehutachiona pamativi emaronda, senge kuwedzera kwekupisa, kupisa, kuzvimba, kana purulent.

Kana uine nhoroondo yemhuri yeEB uye uri kuronga kuva nevana, genetic counseling inogona kukubatsira kunzwisisa njodzi uye sarudzo dziripo. Kuongororwa pakutanga nekutarisirwa kwakakodzera kwezvikwerekuti kunoita musiyano mukuru mukutonga chirwere ichi zvinobudirira.

Usamirire kana ukaona kuti maronda ari kurapa zvishoma nezvishoma, achibata kazhinji, kana chirwere ichi chiri kukanganisa kugona kwako kudya, kunwa, kana kuita mabasa ezuva nezuva. Kutarisirwa kwakakosha kunogona kubatsira kudzivirira matambudziko uye kuvandudza hupenyu.

Ndeapi njodzi dze epidermolysis bullosa?

Njodzi huru ndeyekuve nevabereki vane kuchinja kwemajini kunokonzera EB. Sezvo iri chirwere chinogona kuwanikwa kubva kuvabereki, nhoroondo yemhuri yako inotamba basa rinokosha mukuziva njodzi yako.

Kana vabereki vese vane jeni re recessive re EB, pamuviri wega wega une mukana we 25% wekuita mwana ane chirwere ichi. Kana mubereki mumwe chete ane rudzi rwakakosha rwe EB, mwana wega wega ane mukana we 50% wekuwana chirwere ichi.

Kuve nehama kana vamwe hama pedyo vane EB kuwedzera mukana wekuti ungave uri mutariri kana une chirwere icho pachako. Zvisinei, zvinokosha kucherechedza kuti EB inogona kuitika sechishanduko chitsva chejeni, kunyange mumhuri dzisina nhoroondo yapfuura.

Mamwe marudzi evanhu anogona kuva nehuwandu hwakakwira hwemarudzi akasiyana eEB, asi chirwere ichi chinogona kukanganisa vanhu vechizvarwa chero chipi zvacho. Kuomarara uye rudzi rweEB raunowana kunoenderana nekuchinja kwemajini kunopfuudzwa kubva kuvabereki vako.

Ndeapi matambudziko anogona kuitika e epidermolysis bullosa?

Kunyangwe vanhu vakawanda vane EB vachitungamira chirwere chavo zvakanaka, mamwe matambudziko anogona kuitika nekufamba kwenguva. Kunzwisisa aya mikana kunokubatsira kushanda nesangano rako rekurapa kudzivirira kana kugadzirisa matambudziko aya pakutanga.

Heano matambudziko anogona kuitika:

• Zvikwerekuti zvichangobva kurapwa zvinononoka kurapa uye zvine njodzi yekutapurirana
• Makwapa anogona kudzora kufamba, kunyanya mumajoini
• Kusungana kweminwe kana matsoka (pseudosyndactyly)
• Kuomarara kwe esophagus, kuita kuti kudya kuve kwakaoma
• Anemia kubva pakurasikirwa neropa kwenguva refu uye kushaya zvokudya
• Matambudziko etsinga mune mamwe marudzi akaoma
• Matambudziko emaziso anosanganisira corneal abrasions
• Njodzi yakawedzera yekenza ye ganda munzvimbo dzakakanganisika zvakanyanya

Matambudziko ekudya kazhinji anoitika nekuti kudya kunogona kurwadza kana maronda akaita mumukanwa kana muhuro. Izvi zvinogona kukonzera kurasikirwa nehuremu, kukura kwakaderera muvana, uye kushaya mavhitamini neminerari.

Muzviitiko zvisingawanzoitiki, marudzi akaoma eEB anogona kukonzera matambudziko anotyisa muhucheche. Zvisinei, nekutarisirwa kwakakodzera kwemishonga nekutsigirwa, akawanda ematambudziko aya anogona kudzivirirwa kana kutongwa zvinobudirira.

Epidermolysis bullosa inoongororwa sei?

Vanachiremba kazhinji vanoongorora EB nekutarisa ganda rako uye kutora nhoroondo yakakwana yekurapa. Vachatarisa nzira yekuita maronda uye kubvunza nezve nguva iyo zviratidzo zvakaratidzika uye zvinhu zvinozvikonzera.

Skin biopsy kazhinji inodiwa kuti iongorore uye kuona rudzi rweEB raunaro. Panguva yekurapa uku, chiremba wako anobvisa sampuli diki ye ganda uye anoiongorora pasi pemaikorosikopu chaiwo kuti aone kuti kuparadzana kwe ganda kunoitika kupi.

Genetic testing inogona kuziva kuchinja kwemajini kunokonzera EB yako. Ruzivo urwu runobatsira kufanotaura kuti chirwere ichi chingafambira mberi sei uye rinotungamira sarudzo dzekurapa. Zvakakoshawo pakuronga mhuri uye genetic counseling.

Chiremba wako anogonawo kuraira bvunzo yeropa kuti aone anemia kana kushaya zvokudya. Kana uine dambudziko rekudya, vanogona kukurudzira kuongororwa kwemaitiro kuti vaongorore esophagus yako uye turakiti re digestive.

Kurapa kwe epidermolysis bullosa ndekupi?

Kunyangwe pasina mushonga weEB zvino, kurapa kunotarisa pakudzivirira ganda rako, kutonga zviratidzo, uye kudzivirira matambudziko. Chinangwa ndechekukubatsira kurarama zvakanaka uye zvakanyanya sezvinobvira.

Kutarisirwa kwezvikwerekuti ndiko kwakakosha pakurapa EB. Izvi zvinosanganisira kuchenesa zvinyoro nyoro maronda nezvikwerekuti, kushandisa zvipfeko zvakakosha, uye kushandisa nzira dzinokurudzira kurapa nepo kudzivirira hutachiona.

Heano mazano makuru ekurapa:

• Zvipfeko zvakakosha zvemaronda zvisinganamatike paganda rakapfava
• Zvigadzirwa zve ganda zvinyoro uye nzira
• Kutonga marwadzo nemishonga yakakodzera
• Kutsigirwa kwezvokudya kuchengetedza kukura kwakakodzera nekurapa
• Physical therapy kuchengetedza kufamba uye kudzivirira makwapa
• Antibiotics kana hutachiona hwakaita
• Kuopereta kwezvinetso zvakakomba senge kuomarara kwe esophagus

Sangano rako rekurapa rinogona kusanganisira dermatologists, nyanzvi dzekutarisira maronda, vanachiremba vezvokudya, uye vanachiremba ve physical therapy. Vachashanda pamwe chete kugadzira chirongwa chekutarisira chakakodzera zvinodiwa zvako uye rudzi rweEB.

Kurapa kwakakosha kuri kuongororwa, kusanganisira gene therapy uye protein replacement therapy. Kunyangwe izvi zvisati zviripo zvino, zvinopa tariro yekurapa kwakanyanya kunaka mune ramangwana.

Ungatonga sei epidermolysis bullosa pamba?

Kutarisirwa kwezuva nezuva pamba kunotamba basa rinokosha mukutonga EB zvinobudirira. Nenheyo dzakakodzera nezvinhu, unogona kuderedza maronda uye kubatsira zvikwerekuti kurapa nekukurumidza.

Kutarisirwa kwe ganda zvinyoro kunokosha. Shandisa mvura inodziya yekugeza uye pfugama ganda rako panzvimbo pekukwesha. Sarudza zvipfeko zvinyoro, zvakasununguka uye dzivisa zvinhu zvinogona kukonzera kukwesha kana kutsamwa.

Heano maitiro aunogona kuzvichengeta iwe kana munhu waunoda ane EB pamba:

• Chengeta misumari mipfupi uye yakapfava kudzivirira kukwenya
• Shandisa padding kana cushioning munzvimbo dzine njodzi yemaronda
• Isa moisturizers kuchengetedza ganda rakapfava uye risina kukwenya
• Chinja zvipfeko zvemaronda nguva dzose uchishandisa nzira dzakachena
• Tarisa maronda ezviratidzo zvehutachiona senge kuwedzera kwekupisa kana purulent
• Chengetedza zvokudya zvakanaka kutsigira kurapa
• Ramba wakanyorova kubatsira ganda rako kuramba rakasimba

Kuita nharaunda yakachengeteka pamba kunobatsira kudzivirira kukuvara kusina basa. Bvisa makona akapinza, shandisa fenicha zvinyoro, uye chengetedza chiedza chakakwana kudzivirira kukurumidza nekukwira kunogona kukonzera maronda matsva.

Usazengurire kusvika kune sangano rako rekurapa kana uine mibvunzo kana zvinetso nezve kutarisira maronda. Vanogona kupa mazano chaiwo uye kugadzirisa chirongwa chako chekutarisira sezvinodiwa.

Ungagadzirira sei kuenda kuchiremba?

Kuagadzirira kuenda kuchiremba kunobatsira kuve nechokwadi chekuti unowana zvakawanda kubva panguva yako nesangano rekurapa. Uya nechirongwa chezviratidzo zvaunoita iye zvino, mishonga, uye mibvunzo ipi zvayo yaunoda kukurukura.

Chengeta dhayari yezviratidzo uchinyora nguva iyo maronda anooneka, zvinhu zvinogona kuzvikonzera, uye maitiro avanorapika. Tora mifananidzo yezvikwerekuti zvinotyisa kana kuchinja paganda rako kuratidza chiremba wako.

Nyora mishonga yese nekurapa kwaunenge uchishandisa iye zvino, kusanganisira zvigadzirwa zve over-the-counter uye mishonga yekumba. Izvi zvinobatsira chiremba wako kunzwisisa zviri kushanda uye zvinoda kugadziriswa.

Gadzira mibvunzo nezve kutarisira kwezuva nezuva, miganho yekufamba, uye nguva yekutsvaga rubatsiro rwekukurumidza. Bvunza nezve zviwanikwa zve zvinhu, mapoka ekutsigira, uye nyanzvi dzinogona kubatsira munzvimbo yako chaiyo.

Epidermolysis bullosa inogona kudzivirirwa sei?

Sezvo EB iri chirwere chemajini, haigone kudzivirirwa munzira yakajairwa. Zvisinei, genetic counseling inogona kubatsira mhuri kunzwisisa njodzi dzadzo uye kuita sarudzo dzakachenjera nezve kuva nevana.

Kana une EB kana uine majini ayo, genetic counselors vanogona kutsanangura mukana wekupfuudza chirwere kuvana vako. Vanogonawo kukurukura nezve sarudzo senge prenatal testing kana assisted reproductive technologies.

Kune vanhu vane EB kare, kudzivirira kunotarisa pakudzivirira maronda matsva nematambudziko. Izvi zvinoreva kudzivirira ganda rako kubva kukuvara, kuchengetedza zvokudya zvakanaka, uye kutevera chirongwa chako chekutarisira nguva dzose.

Kuita zvinhu pakutanga nekutarisira kwakakodzera kwezvikwerekuti kunogona kudzivirira akawanda matambudziko anobatanidzwa neEB. Kuongororwa nguva dzose nesangano rako rekurapa kunobatsira kubata uye kugadzirisa matambudziko usati asvika pakakomba.

Chii chinonyanya kukosha nezve epidermolysis bullosa?

EB chirwere chinoda kutarisirwa kwenguva refu nekutarisa, asi vanhu vakawanda vane EB vanorarama hupenyu hwakanaka, hunoremekedzwa. Chinhu chikuru ndechekushanda nevanachiremba vakakodzera uye kudzidza nzira dzakanaka dzekuzvichengeta.

Kunyangwe pasina mushonga zvino, tsvakiridzo iri kuramba ichifambira mberi kunzwisisa kwedu uye sarudzo dzekurapa. Kurapa kwazvino kunogona kuvandudza hupenyu zvikuru uye kudzivirira akawanda matambudziko kana kushandiswa nguva dzose.

Yeuka kuti EB inokanganisa munhu wese zvakasiyana. Zvinoshanda kune mumwe munhu zvinoda kugadziriswa kune mumwe, saka gara uchitaura nesangano rako rekurapa kuti uwedzere chirongwa chako chekutarisira.

Batanidza nemapoka ekutsigira EB nemamwe mhuri dzine chirwere ichi. Vanogona kupa mazano anoshanda, rutsigiro rwepfungwa, uye zvigadziriso pane tsvakiridzo itsva nekurapa kunogona kukubatsira.

Mibvunzo inowanzo bvunzwa nezve epidermolysis bullosa

Epidermolysis bullosa inotapuriranwa here?

Kwete, EB haitapuriranwi. Iri chirwere chemajini chaunazvo kubva pakuberekwa, kwete chimwe chinhu chaunogona kuwana kana kuparadzira kune vamwe vanhu. Maronda nezvikwerekuti zvinokonzerwa neganda rakapfava, kwete mabhakitiriya kana mavhairasi anogona kutapurirwa kune vamwe.

Vanhu vane epidermolysis bullosa vanogona kuva nevana here?

Hungu, vanhu vakawanda vane EB vanogona kuva nevana. Zvisinei, pane njodzi yekupfuudza chirwere kuvana vavo zvichienderana nerudzi rweEB uye mamiriro ejini emumwe wavo. Genetic counseling usati wava nepamuviri inogona kukubatsira kunzwisisa njodzi idzi uye kuongorora sarudzo dzako.

Epidermolysis bullosa ichawedzera kuipa nekufamba kwenguva here?

EB inokanganisa vanhu zvakasiyana mukati mehupenyu hwavo. Mamwe marudzi anoramba akafanana, nepo mamwe anogona kukonzera kuwedzera kwemakwapa kana matambudziko nekufamba kwenguva. Zvisinei, nekutarisirwa kwakakodzera nekutonga kwemishonga, akawanda matambudziko anogona kudzivirirwa kana kuderedzwa. Kuita zvinhu pakutanga nekutarisira kwenguva dzose kwezvikwerekuti kunoita musiyano mukuru mune ramangwana.

Vakuru vanogona kuwana epidermolysis bullosa gare gare muhupenyu here?

Genetic EB chaiyo iripo kubva pakuberekwa, kunyange zvazvo marudzi anyoro asingagone kuongororwa kusvika pakuva mukuru. Zvisinei, kune chirwere chisingawanzoitiki chinonzi epidermolysis bullosa acquisita chinogona kuitika muvakuru nekuda kwe autoimmune problems panzvimbo pemajini. Izvi zvinoda nzira dzakasiyana dzekurapa kupfuura genetic EB.

Kune mabasa api zvayo vanhu vane EB vanofanira kudzivisa zvachose?

Kunyangwe vanhu vane EB vachifanira kungwarira nezve mabasa anokonzera kukwesha kana kukuvara, vazhinji vanogona kubatanidzwa mune mamwe maitiro emitambo nemabasa avanofarira. Kushambira kazhinji kunogamuchirwa, nepo mitambo yekubata inogona kunge yakaoma. Shanda nesangano rako rekurapa kuwana nzira dzakachengeteka dzekuramba uchiita mabasa aunofarira.