Vachitambura nechirwere chisingawanzogarwa nhaka chinozivikanwa se xeroderma pidementosum (XP), vana vemwedzi vanotambura ne hypersensitivity kune ultraviolet mwaranzi, iyo inovadzivisa kupiswa nezuva. Kana pasina kuchengetedzwa kwakakwana, vanotambura kenza yeganda uye kukuvara kwemaziso, dzimwe nguva kunobatanidza neurological disorders. Vatungamiri vakafambira mberi zvakanyanya asi fungidziro ichiri yakaipa uye chirwere chinoramba chakaoma kurarama nacho zuva nezuva.

tsananguro

Xeroderma pigmentosum (XP) chirwere chisingawanzogarwa nhaka chinoratidzwa nekunzwa kwakanyanya kune ultraviolet (UV) mwaranzi inowanikwa muchiedza chezuva uye mamwe magetsi ekugadzira.

Vana vanenge vabatwa nechirwere ichi vanokuvara ganda nemaziso nekusanyanya kupiswa nezuva, uye gomarara reganda rinogona kuitika muvana vadiki zvikuru. Mamwe maitiro echirwere anofambidzana neurological disorders.

Pasina kuchengetedzwa kwezuva kwakazara munzvimbo, hupenyu hwehupenyu huri pasi pemakore makumi maviri. Kumanikidzwa kubuda kunze kweusiku chete kuti vadzivise kutarisana nezuva, varwere vaduku dzimwe nguva vanonzi "vana vemwedzi".

Zvinokonzera

UV radiation (UVA neUVB) imwaranzi isingaonekwe epfupi wevelength uye inopinda zvakanyanya.

Muvanhu, kuratidzwa zvine mwero kumwaranzi yeUV inoburitswa nezuva kunobvumira kuumbwa kwevhitamini D. Ukuwo, kuratidzwa zvakanyanya kunokuvadza nekuti kunokonzera kupisa kwenguva pfupi kweganda nemaziso uye, nekufamba kwenguva, kunokonzera ganda risati rasvika. kuchembera pamwe negomarara reganda.

Kukuvadzwa uku kunokonzerwa nekugadzirwa kwemahara radicals, mamorekuru anoshanda zvakanyanya anoshandura DNA yemaseru. Kazhinji, iyo DNA yekugadzirisa sisitimu yemasero inogadzirisa yakawanda kukuvara kweDNA. Kuunganidza kwavo, izvo zvinoguma nekushandurwa kwemasero kuva masero ane kenza, kunononoka.

Asi muVana veMwedzi, iyo DNA yekugadzirisa sisitimu haishande nekuti majini anoitonga anoshandurwa nekuchinja kwenhaka.

Zvakanyanya, zvaigoneka kuziva shanduko dzinobata 8 magene akasiyana anokwanisa kukonzera marudzi manomwe ezvinonzi "classic" XP (XPA, XPB, etc. XPG) zvichiitika nenzira dzakafanana, pamwe nemhando inonzi "XP variant" . , inopindirana nechimiro chakaderedzwa chechirwere pamwe nekuratidzwa kwekupedzisira.

Kuti chirwere chiratidzwe, zvinodikanwa kuti ugare nhaka kopi yejini rakashandurwa kubva kuna amai varo uye imwe kubva kuna baba varo (kutapurira mu "autosomal recessive" mode). Vabereki saka vatakuri vane hutano, imwe neimwe ine kopi imwe chete yeiyo mutated gene.

chirwere

Kuongororwa kunogona kuitwa muhuduku hwepakutanga, kumativi ezera re1 kusvika kumakore maviri, nekuonekwa kweganda rekutanga uye zviratidzo zveziso.

Kusimbisa izvi, biopsy inoitwa, iyo inotora masero anonzi fibroblasts ari mudermis. Maserura bvunzo anogona kuenzanisa mwero weDNA kugadzirisa.

Vanhu vane hanya

MuEurope neUnited States, 1 kusvika 4 mu1 vanhu vane XP. MuJapan, nyika dzeMaghreb neMiddle East, mwana mumwe mu000 anobatwa nechirwere ichi.

Muna Gumiguru 2017, sangano re "Les Enfants de la lune" rakaratidza 91 nyaya muFrance.. 

Chirwere ichi chinokonzeresa maronda eganda nemeso anodzikira nekukurumidza, aine frequency yakapetwa ka4000 kupfuura muhuwandu hwevanhu.

Zvipembenene zveganda

• Kutsvuka (erythema): Kunzwa kweUV kunokonzera "kupisa kwezuva" kwakanyanya mushure mekuratidzwa zvishoma kubva mumwedzi yekutanga yehupenyu. Kutsva uku kunopora zvisina kunaka uye kunogara kwemavhiki akawanda.
• Hyperpigmentation: Ma “Freckles” anoonekwa pachiso uye nhengo dzemuviri dziri pachena dzinopedzisira dzafukidzwa nemavara ebrown asina kujairika.
• Gomarara reganda: Pre-cancer maronda (solar keratoses) ane chitarisiko chediki dzvuku uye rough makwapa anotanga kuoneka. Gomarara rinowanzokura risati rasvika makore gumi, uye rinogona kuoneka semakore maviri. Aya anogona kunge ari emunharaunda carcinomas kana melanomas, ayo akanyanya kukomba nekuda kwekuda kwavo kupararira (metastases).

Kukuvara kweziso

Vamwe vacheche vanotambura ne photophobia uye havabvumiri chiedza zvakanaka. Kusagadzikana kwecornea uye conjunctiva (conjunctivitis) inokura kubva pazera re4 uye kenza yeziso inogona kuoneka.

Neurological kusagadzikana

Neurological disorders kana psychomotor development abnormalities (kusanzwa, motor coordination problems, etc.) inogona kuonekwa mune dzimwe nzira dzechirwere (mune 20% yevarwere). Ivo havapo muXPC fomu, iyo yakajairika muFrance.

Kana pasina kurapwa kwekurapa, kutungamira kunobva pakudzivirira, kuona uye kurapwa kweganda nemaziso. Kunyatsoongorora nguva dzose (kanoverengeka pagore) nedermatologist uye ophthalmologist inokosha. Chero matambudziko etsinga nekunzwa anofanirawo kuongororwa.

Kudzivirira kwese kuratidzwa kweUV

Iko kudikanwa kwekudzivirira kuratidzwa kweUV kunoshandura hupenyu hwemhuri kukwira pasi. Kubuda kunodzikiswa uye mabasa anoitwa manheru. Vana vemwedzi vava kugamuchirwa kuchikoro, asi sangano rinowanzonetsa kumisa.

Matanho ekudzivirira anoramba achiganhurira zvakanyanya uye achidhura:

• kushandiswa kwakadzokororwa kwekudzivirira kwakanyanya kwezuva,
• kupfeka midziyo yekudzivirira: ngowani, mask kana UV magirazi, magurovhosi uye zvipfeko zvakakosha,
• midziyo yenzvimbo dzinogarogarogara (kumba, chikoro, motokari, nezvimwewo) ine mahwindo ekudzivirira UV nemarambi (chenjera neon magetsi!). 

Kurapa kwezvipembenene zveganda

Kuvhiya kubviswa kwemamota pasi peanesthesia yemunharaunda kunowanzodiwa. Dzimwe nguva kusungirirwa kweganda kunotorwa kubva kumurwere pachake kunoitwa kukurudzira kupora.

Mamwe marapirwo ekare egomarara (chemotherapy uye radiotherapy) dzimwe nzira kana bundu racho rakaoma kushanda.

Dzimwe nzira dzekurapa

• Oral retinoids inogona kubatsira kudzivirira mamota eganda, asi kazhinji haabvumirwe.
• Maronda asati aita kenza anorapwa nekushandisa kirimu inobva pa 5-fluorouracil (an anticancer molecule) kana ne cryotherapy (kupisa kwechando).
• Vitamin D yekuwedzera inodiwa kubhadhara zvikanganiso zvinoonekwa nekuda kwekushaikwa kwekusangana nezuva.

Kuchengetwa kwepfungwa

Manzwiro ekusabatanidzwa munharaunda, kunyanya kudzivirira kwevabereki uye mhedzisiro yeganda reganda uye maoparesheni hazvisi nyore kurarama nazvo. Uye zvakare, iyo yakakosha fungidziro inoramba isina chokwadi kunyangwe ichiita kunge iri nani kubva pachangobva kuitwa mapuroteni matsva ekudzivirira kwakazara kubva kuUV. Kutarisira mupfungwa kunogona kubatsira murwere nemhuri yake kurarama nehosha yacho.

kutsvaka

Kuwanikwa kwemajini anobatanidzwa kwakazarura nzira itsva dzokurapa. Gene therapy uye marapirwo emunharaunda kugadzirisa DNA anogona kuve mhinduro dzeramangwana.

Mumhuri umo vana vemwedzi vakazvarwa, genetic counselling inokurudzirwa. Ichakurukura njodzi dzine chekuita nekuzvarwa patsva.

Kuongororwa kweantenatal kunogoneka kana shanduko dzakabatanidzwa dzakaonekwa. Kana vakaroorana vachida kudaro, kubvisa pamuviri kunogoneka.