Ana amwezi akudwala matenda osowa kwambiri obadwa nawo otchedwa xeroderma pidementosum (XP), amene amadwala kwambiri chifukwa cha cheza cha cheza cha ultraviolet, chomwe chimawalepheretsa kupsa ndi dzuwa. Ngati palibe chitetezo chokwanira, amadwala khansa yapakhungu ndi kuwonongeka kwa maso, nthawi zina kumakhudzana ndi matenda a ubongo. Otsogolera apita patsogolo kwambiri koma matendawa akadali osauka ndipo matendawa amakhala ovuta kukhala nawo tsiku ndi tsiku.

Tanthauzo

Xeroderma pigmentosum (XP) ndi matenda osowa kwambiri omwe timatengera kwa makolo omwe amadziwika ndi kukhudzidwa kwambiri ndi cheza cha ultraviolet (UV) chomwe chimapezeka pa kuwala kwa dzuwa ndi magwero ena opangira magetsi.

Ana omwe ali ndi vutoli amavulala pakhungu ndi maso akamapsa kwambiri ndi dzuwa, ndipo khansa yapakhungu imatha kuchitika mwa ana aang'ono kwambiri. Mitundu ina ya matendawa imatsagana ndi matenda a minyewa.

Popanda chitetezo chokwanira cha dzuwa, moyo umakhala wosakwana zaka 20. Kukakamizika kutuluka usiku kokha kuti asatengeke ndi dzuwa, odwala achichepere nthawi zina amatchedwa "ana a mwezi".

Zimayambitsa

Ma radiation a UV (UVA ndi UVB) ndi ma radiation osawoneka amtali wamtali komanso olowera kwambiri.

Kwa anthu, kutenthedwa pang'onopang'ono ndi kuwala kwa dzuwa komwe kumatulutsa kumapangitsa kuti vitamini D apangidwe. Komano, kuwonetseredwa mopitirira muyeso kumakhala kovulaza chifukwa kumayambitsa kuyaka kwakanthawi kwa khungu ndi maso ndipo, pakapita nthawi, kumapangitsa khungu msanga. kukalamba komanso khansa yapakhungu.

Kuwonongeka kumeneku kumayamba chifukwa cha kupanga ma free radicals, mamolekyu omwe amagwira ntchito kwambiri omwe amasintha DNA yama cell. Nthawi zambiri, dongosolo lokonzanso DNA la maselo limakonza zowonongeka zambiri za DNA. Kuchulukana kwawo, komwe kumapangitsa kusintha kwa maselo kukhala maselo a khansa, kumachedwa.

Koma mu Ana a Mwezi, dongosolo lokonzekera DNA siligwira ntchito chifukwa majini omwe amawongolera amasinthidwa ndi masinthidwe obadwa nawo.

Mwatsatanetsatane, zinali zotheka kuzindikira masinthidwe omwe amakhudza 8 jini zosiyanasiyana zomwe zimatha kuchititsa mitundu isanu ndi iwiri ya zomwe zimatchedwa "classic" XP (XPA, XPB, etc. XPG) zomwe zimachitika m'njira zofanana, komanso mtundu wotchedwa "XP variant" . , yofanana ndi mawonekedwe ochepetsetsa a matendawa ndi mawonetseredwe amtsogolo.

Kuti matendawa awonetsedwe, ndikofunikira kulandira kopi ya jini yosinthika kuchokera kwa amayi ake ndi ina kuchokera kwa abambo ake (kufalikira munjira ya "autosomal recessive"). Makolowo ndi onyamula athanzi, omwe ali ndi kopi imodzi ya jini yosinthika.

matenda

Matendawa amatha kupangidwa kuyambira ali mwana, ali ndi zaka 1 mpaka 2, ndi maonekedwe a khungu loyamba ndi zizindikiro za maso.

Kuti atsimikizire izi, biopsy imachitika, yomwe imatenga ma cell otchedwa fibroblasts omwe ali mu dermis. Mayeso a ma cell amatha kuwerengera kuchuluka kwa kukonza kwa DNA.

Anthu okhudzidwa

Ku Ulaya ndi ku United States, 1 mpaka 4 mwa anthu 1 ali ndi XP. Ku Japan, mayiko a Maghreb ndi Middle East, mwana mmodzi pa 000 amadwala matendawa.

Mu Okutobala 2017, bungwe la "Ana a Mwezi" lidazindikira milandu 91 ku France. 

Matendawa amayambitsa zotupa pakhungu ndi m'maso zomwe zimawonongeka msanga, ndipo nthawi zambiri zimakhala zopitilira 4000 kuposa anthu wamba.

Zilonda pakhungu

• redness (erythema): Kukhudzidwa kwa UV kumabweretsa "kuwotchedwa kwa dzuwa" koopsa pambuyo powonekera pang'ono kuyambira miyezi yoyamba ya moyo. Kupsya uku kuchira bwino ndipo kumatha kwa milungu ingapo.
• Hyperpigmentation: "Timadontho" timawonekera pankhope ndipo mbali zowonekera za thupi zimatha kukhala ndi mawanga abulauni.
• Khansa yapakhungu: Zilonda zam'mbuyo zam'mimba (solar keratoses) zokhala ndi mawanga ang'onoang'ono ofiira ndi okhwima zimawonekera poyamba. Khansara nthawi zambiri imayamba asanakwanitse zaka 10, ndipo imatha kuwoneka zaka ziwiri. Izi zitha kukhala ma carcinomas kapena ma melanomas, omwe ndi oopsa kwambiri chifukwa cha kufalikira kwawo (metastases).

Kuwonongeka kwamaso

Ana ena amadwala photophobia ndipo samalekerera kuwala bwino. Zovuta za cornea ndi conjunctiva (conjunctivitis) zimayamba kuyambira zaka 4 ndipo khansa ya m'maso imatha kuwoneka.

Matenda a mitsempha

Kusokonezeka kwaubongo kapena zovuta zakukula kwa psychomotor (kugontha, zovuta zamagalimoto, ndi zina zambiri) zitha kuwoneka mumitundu ina ya matendawa (pafupifupi 20% ya odwala). Salipo mu mawonekedwe a XPC, omwe amapezeka kwambiri ku France.

Ngati palibe chithandizo chochizira, kasamalidwe kamakhala pa kupewa, kuzindikira ndi kuchiza zilonda zapakhungu ndi maso. Kuwunika pafupipafupi (kangapo pachaka) ndi dermatologist ndi ophthalmologist ndikofunikira. Vuto lililonse la minyewa ndi kumva liyenera kuyesedwanso.

Kupewa kukhudzidwa konse kwa UV

Kufunika kopewa kukhudzidwa ndi UV kumasintha moyo wabanja. Zotuluka zimachepetsedwa ndipo ntchito zomwe zimachitika usiku. Ana a mwezi tsopano amalandiridwa kusukulu, koma kaŵirikaŵiri gulu limakhala lovuta kukhazikitsa.

Njira zodzitetezera zimakhalabe zochepetsetsa komanso zokwera mtengo:

• kugwiritsa ntchito mobwerezabwereza mafuta oteteza dzuwa,
• kuvala zida zodzitetezera: chipewa, chigoba kapena magalasi a UV, magolovesi ndi zovala zapadera,
• zida za malo omwe amapezeka pafupipafupi (kunyumba, sukulu, galimoto, ndi zina zotero) zokhala ndi mazenera odana ndi UV ndi magetsi (samalani ndi magetsi a neon!). 

Chithandizo cha zotupa pakhungu

Opaleshoni kuchotsa zotupa pansi opaleshoni m`deralo zambiri amakonda. Nthawi zina kumezanitsa khungu kotengedwa kwa wodwala mwiniyo kumachitidwa kuti alimbikitse machiritso.

Thandizo lina lakale la khansa (chemotherapy ndi radiotherapy) ndi njira zina pomwe chotupacho chimakhala chovuta kugwira ntchito.

Njira zina zochiritsira

• Oral retinoids amathandizira kupewa zotupa pakhungu, koma nthawi zambiri samalekerera.
• Matenda a khansa asanakhalepo amachiritsidwa pogwiritsa ntchito zonona zochokera ku 5-fluorouracil (anticancer molecule) kapena cryotherapy (kutentha kozizira).
• Vitamin D supplementation ndiyofunika kubweza zofooka zomwe zimawonekera chifukwa chosowa dzuwa.

Chisamaliro chamaganizidwe

Kudzimva kukhala wodzipatula, kutetezedwa mopambanitsa kwa makolo ndi kukongola kwa zotupa pakhungu ndi maopareshoni sizovuta kukhala nazo. Kuonjezera apo, kuneneratu kofunikirako sikunatsimikizikebe ngakhale kukuwoneka bwino kwambiri kuyambira kukhazikitsidwa kwaposachedwa kwa ndondomeko zatsopano zotetezera kwathunthu ku UV. Chisamaliro chamaganizo chingathandize wodwalayo ndi banja lake kulimbana ndi matendawa.

Search

Kupezeka kwa majini okhudzidwawo kwatsegula njira zatsopano zochizira. Kuchiza kwa majini ndi mankhwala am'deralo kukonza DNA kungakhale njira zothetsera mtsogolo.

M'mabanja omwe ana a mwezi abadwa, uphungu wa majini ukulimbikitsidwa. Zidzalola kukambirana za kuopsa kwa kubadwa mwatsopano.

Kuzindikira kwa oyembekezera kumatheka ngati masinthidwe okhudzidwa adziwika. Ngati okwatiranawo akufuna, kuchotsa mimba kwachipatala n'kotheka.