Xeroderma Pigmentosum

Nhaka Yakagadzikana Inokonzera Kuwedzerwa Kwezuva Sensitivity

Xeroderma pigmentosum (XP) chirwere chinotora nhaka chinokonzera kukanganisa kukuru kune ultraviolet (UV) chiedza. UV chiedza inokuvadza mageneti ( DNA ) mumasero uye inovhiringidza masero esero. Kazhinji, DNA yakaodzwa inogadziriswa nemuviri, asi DNA yekugadzirisa zvirongwa zvevanhu vane XP hazvishandi zvakanaka. Muna XP, DNA yakaodzwa inovaka uye inokuvadza masero emumuviri, kunyanya muganda nemaziso.

Xeroderma pigmentosum inotora nhaka muzvinyorwa zvekutsvaga . Inobata varume nevakadzi vemarudzi ose. XP inofungidzirwa kuti inoitika kune 1 mu1 000 000 vanhu muUnited States. Mune dzimwe nzvimbo dzenyika, dzakadai seNorth Africa (Tunisia, Algeria, Morocco, Libya, Egypt), Middle East (Turkey, Israel, Syria), uye Japan, XP inowanzoitika.

Zviratidzo zveganda

Vanhu vane xeroderma pigmentosum vanoona zviratidzo zveganda uye kuchinja kubva kuzuva. Izvi zvinogona kusanganisira:

Zita rokuti "xeroderma pigmentosum" zvinoreva "ganda rakaoma rakapetwa." Kujekesa kune zuva pamusoro penguva kunoita kuti ganda rive rima, rakaoma, uye secheche-yakafanana. Kunyangwe nevana, ganda rinoratidzika seganda revarimi nevashambadzi vange vari muzuva kwemakore akawanda.

Vanhu vane xeroderma pigmentosum vane makore anodarika makumi maviri vane nguva dzinopfuura 1 000 pangozi yekuva nekenza yeganda kupfuura vanhu vasina chirwere.

Chekutanga kenza yeganda inogona kukura mwana asati aine XP ane makore gumi nemashanu, uye mazhinji akawanda echechi yekenza anogona kukura mune ramangwana. Muna XP, kenza yeganda inokura kakawanda pameso, pamiromo, pameso, uye pamucheto werurimi.

Zviratidzo Zveziso

Vanhu vane xeroderma pigmentosum vanoonawo zviratidzo zveziso uye kuchinja kubva kuzuva. Izvi zvinogona kusanganisira:

Nervous System Symptoms

Vanenge 20 kusvika ku30 muzana yevanhu vane xeroderma pigmentosum vanewo zviratidzo zvehutano zviratidzo zvakadai se:

Nervous system zviratidzo zvinogona kunge zviripo mucheche, kana kuti zvingasaratidzika kusvikira achiri mwana kana achiri kuyaruka. Vamwe vanhu vane XP vachakudziridza zviratidzo zvehutano zvishoma pakutanga, asi zviratidzo zvinowedzera kuipa kupfuura nguva.

Kuziva

Kuongororwa kwe xeroderma pigmentosum kunobva paganda, ziso, uye zviratidzo zvehutano zviratidzo (kana zviripo). Chiyero chinokosha chakaitwa muropa kana sampu yeganda chinogona kutsvaga DNA yekugadzirisa kukanganisa iko mu XP. Miedzo inogona kuitwa kuitira kutonga zvimwe zvirwere zvinogona kuita kuti zviratidzo zvakafanana, zvakadai seCockayne syndrome, trichothiodystrophy, Rothmund-Thomson syndrome, kana Hartnup chirwere.

Kurapa

Hakuchina mushonga we xeroderma pigmentosum, saka kurapa kunotarisa pane zvinetso zviripo uye kudzivirira matambudziko emangwana kubva pakukura. Chero kanzira kana zvipembenene zvinoshungurudza zvinofanira kurapwa kana kubviswa nechirwere cheganda ( dermatologist ).

Anyanzvi weziso ( ophthalmologist ) anogona kubata chero matambudziko eziso anoitika.

Sezvo iri chiedza cheVV chinokonzera kukanganisa, chikamu chikuru chekudzivirira kwezvinetso kunodzivirira ganda nemaziso kubva kunezuva. Kana mumwe munhu ane XP achifanira kuenda panze masikati, iye anofanira kupfeka masaga, marefu, magirafu, chikwata, magirazi ane magiravha, uye sunshcreen. Kana iri mumba kana mumotokari, mahwindo anofanira kuvharwa kudzivirira mazai eVV kubva kunezuva (kunyange zvazvo UVA chiedza ichiri kupinda mukati, saka munhu anofanira kunge akapfeka zvakakwana). Vana vane XP havafaniri kutamba panze masikati.

Dzimwe mhando dzechiedza chemukati (zvakadai semarambi e halogen) dzinogonawo kupa chiedza che UV. Nzvimbo dzakasununguka dzekuvhenekera UV mumusha, chikoro, kana nzvimbo yekushanda inofanira kuonekwa uye kubviswa, kana zvichibvira. Vanhu vane XP vanogonawo kupfeka chisiki chezuva mumba kuti vadzivirire pamusana pezvizivikanwe zvekuvhenekera kweVV.

Zvimwe zvikamu zvakakosha zvekudzivirira zvinetso ndezvenguva dzakaongororwa zveganda, kuongororwa kweziso, uye kuongorora kwekutanga uye kurapwa kwematambudziko emagetsi emagetsi akadai sekurasikirwa kwekunzwa.

Sources:

"Kunzwisisa Xeroderma Pigmentosum." Zvirwere Zvirwere Zvinyorwa Publications. 2006. Clinical Center, National Institutes of Health.

Kraemer, Kenneth. "Xeroderma Pigmentosum." GeneReviews. 22 Apr 2008. GeneTests.