Epidermolysis Bullosa

Junctional epidermolysis bullosa inoratidza kuberekwa. Maronda makuru, akavhurika akajairika uye anokonzera hutachiona nekurasikirwa nemvura mumuviri. Somugumisiro, marudzi akakomba eronda aya anogona kuuraya.

Epidermolysis bullosa (ep-ih-dur-MOL-uh-sis buhl-LOE-sah) chirwere chisingawanzoitika chinokonzera ganda rakapfava, rine makomba. Makomba anogona kuoneka semugumisiro wekukuvadzwa kushoma, kunyange kubva pakupisa, kukwenya kana kukweshera. Muzviitiko zvakakomba, makomba anogona kuitika mumuviri, sekufukidza kwemukanwa kana mudumbu.

Epidermolysis bullosa inogara ichipfuudzwa kubva kuvabereki kuvana, uye kazhinji inoratidza muvana vacheche kana vana vaduku. Vamwe vanhu havaone zviratidzo kusvika vave kuyaruka kana vakuru vechidiki.

Epidermolysis bullosa haina mushonga, asi marudzi akapfava anogona kuvandudza nekuwedzera kwezera. Kurapa kunotarisa pakutarisira makomba uye kudzivirira matsva.

Zviratidzo zveEpidermolysis bullosa zvinosanganisira: Ganda rakaonda rinobhururuka nyore nyore, kunyanya pamakumbo nemakumbo Nzwara dzakakora kana dzisina kuumbwa Maburi emukati memuromo nehuro Kubhururuka kweganda remusoro uye kurasikirwa nevhudzi (scarring alopecia) Ganda rinotaridzika kunge rakatetepa Madiki madiki akaita semapimple (milia) Matambudziko emazino, akadai sekuora kwemazino Kunetseka kumedza Ganda rinorwadza, rinorwadza Kazhinji maburi eepidermolysis bullosa anocherechedzwa panguva yekuchechera. Asi hazvishamisi kuti aonekwe kana mwana wechidiki atanga kufamba kana kana mwana mukuru atanga zviitiko zvitsva zvinokonzera kukweshana kwakawanda pasi petsoka. Bata mupi wako wehutano kana iwe kana mwana wako akaita maburi pasina chikonzero chinozivikanwa. Kune vacheche, kubhururuka kwakanyanya kunogona kuva nengozi kuhupenyu. Tsvaga rubatsiro rwekurapa nekukurumidza kana iwe kana mwana wako: Aine matambudziko ekumedza Aine matambudziko ekufema Anoratidza zviratidzo zvehutachiona, senge ganda rinodziya, rinorwadza kana kuzvimba, puru, kana kunhuwa kubva pachironda, uye fivha kana kutonhora

Taura nachiremba wako kana iwe kana mwana wako makaita maronda asingazivikanwe. Kuchembera kwakanyanya kuvana vacheche kunogona kuuraya.

Tsvakai rubatsiro rwekurapa nekukurumidza kana iwe kana mwana wako:

• Ava nematambudziko ekuruma
• Ava nematambudziko ekufema
• Achiratidza zviratidzo zvehutachiona, zvakadai seganda rinopisa, rinorwadza kana kuzvimba, tsvina, kana kunhuhwirira kubva paruvara, uye fivha kana kunzunguza

Zvichienderana nerudzi rwe epidermolysis bullosa, maronda anogona kuitika pane ganda repamusoro (epidermis), ganda riri pasi (dermis) kana rukoko runoparadzanisa maviri aya (basement membrane zone).

Mukurwara kwe autosomal dominant, jini rachinja igene rinokunda. Riri pane rimwe remachromosomes asiri ebonde, anonzi autosomes. Jini rimwe chete rachinja rinoda kuti munhu abatwe nechirwere ichi. Munhu ane chirwere che autosomal dominant — muenzaniso uyu, baba — ane mukana we 50% wekuva nembabvu yakabatwa ine jini rimwe rachinja uye mukana we 50% wekuva nembabvu isina kubatwa.

Kuti uve nechirwere che autosomal recessive, unogara uchigara nemagene maviri akachinja, dzimwe nguva anonzi mutations. Unowana rimwe kubva kuna vabereki vese. Hutano hwavo hahuwanzo kukanganiswa nekuti vane jini rimwe chete rachinja. Vanhu vaviri vane mukana we 25% wekuva nembabvu isina kubatwa ine magene maviri asina kukanganiswa. Vane mukana we 50% wekuva nembabvu isina kubatwa iyo zvakare iri mutsigiri. Vane mukana we 25% wekuva nembabvu yakabatwa ine magene maviri akachinja.

Epidermolysis bullosa simplex kazhinji inoonekwa pakuumbwa kana muhucheche. Ndiyo yakajairika uye isina kuoma. Maronda anogona kunge ari mashoma kana akaenzaniswa nerudzi rumwe.

Dystrophic epidermolysis bullosa kazhinji inoonekwa pakuumbwa kana muhudiki. Maitiro akaoma anogona kukonzera ganda rakaoma, rakaoma, makanda, uye maoko nemaoko akashata.

Epidermolysis bullosa inokonzerwa negene yakagara nhaka. Unogona kugara nhaka yegene rechirwere kubva kumubereki mumwe chete ane chirwere (autosomal dominant inheritance) kana kubva kuvabereki vese (autosomal recessive inheritance).

Ganda rakaumbwa nechepamusoro (epidermis) uye rukoko ruri pasi (dermis). Nzvimbo iyo makwara anosangana inonzi basement membrane. Marudzi e epidermolysis bullosa anotsanangurwa zvikuru nemakwara anoparadzana uye anoumba maronda. Kukuvadzwa kwe ganda kunogona kuunzwa nekukuvara kwakaderera, kuvhunduka kana chinhu chisingaiti.

Marudzi makuru e epidermolysis bullosa ndeiyi:

• Epidermolysis bullosa simplex. Iri ndiro rudzi rwakajairika. Rinokonzerwa nekupisa uye kushambadzira uye rinokura pane ganda repamusoro. Inonyanya kukanganisa maoko nemaoko. Maronda anoporesa pasina makanda.
• Junctional epidermolysis bullosa. Rudzi urwu runogona kunge rwakakomba, nemaronda anotanga muhucheche. Mwana ane mamiriro aya anogona kukura kuchema kwakaoma kubva pakukonzera maronda uye makanda e vocal cords.
• Dystrophic epidermolysis bullosa. Rudzi urwu runobatanidzwa nekushaya kwegene rinobatsira kugadzira puroteni inobatsira kuisa makwara eganda pamwechete. Kana puroteni iyi isingawanikwe kana isingashande, makwara eganda haazobatanidzi zvakakwana. Inogona kukonzera ganda rinotaridzika rakasimba. Mucous membranes dzine chirwere dzinogona kukonzera kuvimba uye kuita kuti zvive zvakaoma kudya.
• Kindler syndrome. Rudzi urwu runowanzoita maronda mumakwara akawanda uye saka rinogona kutaridzika zvakasiyana kubva kune munhu. Maronda anowanzoonekwa muhucheche kana muhudiki. Inowedzera kunzwa kwezuva uye inokonzera ganda rinotaridzika rakasimba, rakaoma uye rakamonyana.

Epidermolysis bullosa acquisita yakasiyana nemamiriro aya, sezvo isingagari nhaka uye yakawanda muvana.

Chikonzero chikuru chinokonzera epidermolysis bullosa ndechokuva nemhuri ine nhoroondo yeronda iri.

Epidermolysis bullosa inogona kuipa kunyangwe iine kurapwa, saka zvakakosha kuona zviratidzo zvematambudziko pakutanga. Matambudziko anogona kusanganisira:

• Kuvira. Ganda rinoputika rinogona kuvirwa nemabhakitiriya.
• Kuvira kweropa. Sepsis inoitika kana mabhakitiriya kubva pakuvira apinda muropa ndokupararira mumuviri wose. Sepsis inogona kupararira nekukurumidza uye kutungamirira kune shock nekutadza kwezvikamu zvemuviri.
• Kusanganiswa kwezvigunwe nekushanduka kwemajombo. Mhando dzakakomba dze epidermolysis bullosa dzinogona kusunga zvigunwe kana minwe uye kukonzera kubendera kwakasiyana kwemajombo (contractures). Izvi zvinogona kukanganisa kushanda kwezvigunwe, mazamu nemabvi.
• Matambudziko ekudya. Zvipuka mumuromo zvinogona kuita kuti kudya kuve kwakaoma uye kutungamirira kune kushomeka kwezvinovaka muviri neanemia, sekushomeka kwe iron muropa. Matambudziko ekudya anogona zvakare kukonzera kurapa kwakawanda kwemaronda nekukura kwakaderera muvana.
• Kutadza kubuda ura. Kunetseka kubuda ura kunogona kunge kuri nekuda kwezvipuka zvinorwadza munzvimbo ye anus. Zvinogona zvakare kukonzerwa nekusatora mvura yakakwana kana zvokudya zvine fiber yakawanda, senge michero nemiriwo.
• Matambudziko ezino. Kuora kwemazino nematambudziko ane tishu dziri mumuromo zvakajairika nemamwe marudzi e epidermolysis bullosa.
• Kenza yeganda. Vatevedzeri nevakuru vane mamwe marudzi e epidermolysis bullosa vari panjodzi yakawanda yemhando yekenza yeganda inonzi squamous cell carcinoma.
• Rufu. Vacheche vane junctional epidermolysis bullosa yakakomba vari panjodzi yakawanda yekuvira nekurasikirwa nemvura mumuviri kubva pakuvira kwakapararira. Zvipuka mumuromo nemuhuro zvinoitawo kuti kudya nekufema zvive zvakaoma. Vazhinji vevana ava havapori.

Hazvibviri kudzivirira epidermolysis bullosa. Asi matanho aya angabatsira kudzivirira maronda nehutachiona.

• Bata mwana wako norudo. Mwana mudiki wako kana mwana anoda kutsamira, asi iva nyoro kwazvo. Kuti unomutsa mwana ane epidermolysis bullosa, isa mwana pamucheka unyoro uye upe rutsigiro pasi pemabvi uye kumashure kwemutsipa. Usamutse mwana kubva pasi pemaoko.
• Chenjera zvikuru munzvimbo yedayapa. Kana mwana wako akapfeka madayapa, bvisa mabhandi ane elastic uye usashandise ma wipes ekuchenesa. Fukidza diaper ne dressing isina kunamira kana kuifukidza ne zinc oxide paste yakakora.
• Chengeta imba ichitonhora. Edza kuchengeta imba yako ichitonhora uye tembiricha yakadzikama.
• Chengeta ganda rakasviba. Isa moisturizer zvinyoro nyoro sezvinodiwa zuva rese.
• Dzivisa kukwenya. Cheka misumari yemwana wako nguva dzose.
• Kurudzira mwana wako kuti ave ane simba. Sezvo mwana wako achikura, kurudzira mabasa anoderedza njodzi yekukuvara kwe ganda. Kushambira sarudzo yakanaka. Kune vana vane epidermolysis bullosa yakapfava, vanogona kudzivirira ganda nekupfeka ma trousers marefu nema sleeves emabasa ekunze.
• Fukidza nzvimbo dzakasimba. Funga kufukidza chigaro chemotokari kana tubhu yekugeza ne sheepskin, foam kana tauro yakakora. Cotton kana silika inonyoro inogona kushandiswa sesefa pamusoro pe padding.

Chiremba wenyu angagona kuona epidermolysis bullosa kubva pakutaridzika kweganda. Imi kana mwana wenyu mungada bvunzo dzekusimudzira chirwere ichi. Bvunzo idzodzo dzinogona kusanganisira:

• Biopsy yekuongorora immunofluorescence. Nerimwe nzira iyi, sampuli duku ye ganda rakakuvara kana mucous membrane inobviswa woongororwa ne microscope chaiyo. Inoshandisa chiedza chinoratidzwa kuziva matunhu eganda akabatwa. Bvunzo iyi inozivawo kana mapuroteni anodiwa pakukura kwemhando aripo uye ane hutano.
• Genetic testing. Nerimwe bvunzo iri, chiremba wenyu anotora sampuli duku yeropa woitumira ku laboratori kuti iongororwe DNA.
• Prenatal testing. Mhuri dzine nhoroondo ye epidermolysis bullosa dzinogona kuda kufunga nezve prenatal testing nekurairwa kwe genetic.