Xeroderma pigmentosum: zvinokonzera, zviratidzo, tsananguro uye unhu kurapwa

Nhasi, munhu chitarisiko wakakurira basa rinokosha. Asi, zvinosuruvarisa zvinoitika kuti dzimwe nguva muviri rapera, uye chinhu mumuviri anotanga kushanda zvachose sezvo kuita. Hazvina nyaya iyi, iyo kunokanganisa munhu nechitarisiko xeroderma pigmentosum. Chii ichi chirwere uye zvose zvakadai zvakakosha pamusoro chirwere - ichi uye richaramba nayo.

mazwi

Pakutanga, tinofanira kunzwisisa kuti chii. Saka, xeroderma pigmentosum - chirwere ganda, inova nhaka. Muchiitiko chino, ganda yevanhu hypersensitive kuti chiedza chezuva. Maererano neizvi, ino ezvinhu omurwere kazhinji chiremba anonzi precancerous. Kana isu kutaura ezvokurapa, zvokurwara ichi - chinhu autosomal chirwere retsesivnoe DNA apo masero pachavo havagoni kugadzirisa Makwanza kana uchinwa ari mamorekuru.

Chiizve unofanira kuziva pamusoro chirwere "xeroderma pigmentosum"? kwadzinoita nhaka, sezvo pamusoro apa, autosomal retsesivny. Zvisinei, masayendisiti cherechedza kuti angava autosomal nesimba, asi pamwe chokuita zvepabonde okutodza.

Vamwe nhamba uye unhu

Kana isu nezvazvo dzakabudirira, xeroderma pigmentosum akawana munhu mumwe chete nevagari miriyoni 1. Zvisinei, muna China nhamba zvikuru yepamusoro - 1 murwere chete nevagari 100 zviuru. Vaongorori kumuratidza kuti chimiro ichi chirwere kunoratidzwa zvikurukuru chine gedhi nemunharaunda, mapoka, vanonzi oga, inoumbwa chaiwo dzidziso (somuenzaniso, nharaunda yechitendero). Uyewo, dambudziko iri nhaka uye wabva mubereki mwana. Vanachiremba vanoti chirwere ichi zvakare rinowanzoberekera kuna dzimba pedyo nehama ropa.

The pakuonekwa chirwere

Chii xeroderma pigmentosum? Paganda munhu kupa chaiyo pigmentation. Izvi zvose zvinoitika somugumisiro yokuwana ultraviolet nemwaranzi paganda murwere. Asi kana munhu utano basa chaiwo makemikari kuti kutadzisa panowanikwa mavara data, Varwere izvi, havana basa. Vose mhosva - kunotouraya mu mapuroteni kuti vane basa rinenge kupora pashure yakadaro mwoyo. masero Mutated zvishoma nezvishoma uchingounganidza mumuviri, chinoguma kenza ganda. Kunze ultraviolet nemwaranzi, zvinofanira kucherechedzwa, ganda murwere ndiyewo achikurumidza kugumbuka kuti radiological uye (ionizing) nemwaranzi.

About mhando zvirwere

Ini ndingadawo kucherechedza kuti pane mhando akasiyana xeroderma pigmentosum. Vanosvika vanomwe oga, uye ivo vakasiyana letters: A, B, C, D, E, F, G. neimwe date mhando ndinoshanda imwe mutant Gene. Kunyanya sezvo kusiyana izvi vari vachiri nemasayendisiti. Uyezve govera wechisere mhando - pigmentosa kserodermoid Jung. Zvisinei, ndinofanira kutaura kuti iyi nyaya chikuru kuremara uye haina kuzivikanwa.

symptomatology

Ndinofanira kutaura kuti pane kuberekwa xeroderma pigmentosum ganda harizivikanwi. Vanoberekwa vari kuipa, hapana imwe kuratidzwa pamusoro ganda. Zviratidzo zvokutanga dzinotanga kuitika kumativi panguva 3 months - 3 makore asi zvinokwanisika uye yapfuura kana gare gare kutanga muitiro, zvichienderana potency ose ultraviolet mwaranzi. Zviratidzo zvokutanga, iyo anozviratidza muvana:

• mvura-mvura meso;
• photophobia;
• zvinogoneka conjunctivitis;
• chirwere kungazviratidza photodermatitis.

On muviri wemwana mune mavara akafanana moles kana freckles. Zvishoma nezvishoma, nhamba yavo inowedzera. Izvi imhaka pigmentation zvirwere pezvakaitwa. Zvimwe zviratidzo, iyo zvino anovamba kuoneka:

1. Telangiectasia, kureva ganda midziyo dilate.
2. Zvingavawo hyperkeratosis, kana kugovera nokukurumidza masero, uye dzinotsanagura desquamation hwakaipa. Somugumisiro, zvinogona kuitika actinic ganda.
3. Ichiwedzerwa kuoma ganda.

zvekuchipatara mufananidzo

By magene ganda zvirwere hurwere avo: xeroderma pigmentosum, reticular mberi melasma, melasma Peak kuti, chaizvoizvo, ndiye chirwere chete. The mufananidzo zvekuchipatara rakakamurwa mhando huru nhatu:

1. Anogumbura. On pachena ganda ngapaonekwe mavara akafanana freckles. Zvishoma nezvishoma pane chikero, rakafanana lentigo.
2. Giperkeraticheskaya siteji. On ganda vari rave vakaumba nezviduku pamusoro masumbu freckles, flakes, lentigo mhando zvinhu. Zvose anoyeuchidza mufananidzo echirwere mwaranzi dermatitis. Dzimwe nguva pangava dzidzo warty. kuchinja zvose izvi atrophic zvishoma nezvishoma deplete hryaschik mhino, nzeve, echisikigo orifices anogona akaremara. Uyewo panguva iyi zvinokwanisika muparavara, kurasikirwa eyelashes. The cornea anogona kuva shongwe, pane photophobia, uye lacrimation.
3. Pakupedzisira pavaipfuura dambudziko kenza anoenda kumwe. On ganda pane zvose benign uye nyanyisa anomera.

chetsinga zvinhu

About mumwe varwere mashanu pamwe nechirwere pamusoro chetsinga abnormalities zvinochengetwa. Angava retardation mupfungwa, areflexia (hapana zvichiratidza). Zvinokoshawo kuziva kuti xeroderma pigmentosum kazhinji hwakazarawo nezvirwere zvakadai:

• Reed kuti urwere, kana kuderera kukura marangwanda, kuti dehenya ipfupi, pane kunonoka kwomuviri nepfungwa kukura.
• Syndrome De Sanctis-Kakkone apo hadzina kufambiswa zvakanaka nechepakati tsinga akaratidza aneganda kuratidzwa.

The zvinokonzera chirwere

Zvaunofanira kuziva pamusoro yakadaro dambudziko sezvo xeroderma pigmentosum? Inokonzera, zviratidzo chirwere chacho? Kana kuratidzwa chirwere zvose zvakajeka, zvino ndiyo nguva yokuti uzive chii chaizvoizvo kunokonzera zvayo chitarisiko. Sezvo wava pachena, ndiwo chaiwo Gene mutation, kana chaikonzera chiri autosomal Gene wakapfuurira kubva kuvabereki. Uyewo mune murwere masero kushayikwa UV-endonuclease enzayemu kungava RNA polymerase kukanganisika. Vaongorori dzinotiwo mhaka zvokurwara angava nokuwedzera kwevanhu masango porphyrins dzinongoitika anokosha makemikari, izvo kukanganisa ganda.

Diagnostics

Chakakoshera xeroderma pigmentosum nokuti nhasi zvakakwirira zvikuru. Pashure pezvose, vanhu vakawanda vari kuedza kuenda zuva kakawanda, hazvina kutya kugara UV mwaranzi. Uye zvakaipa. Kunyange kana munhu uye asingadi kukanganisa chirwere, ganda zvakanaka zvishoma kufumura zvinoshingaira zuva nemwaranzi. Zvinobvira sei kuona chirwere ichi?

• Kuongorora ganda uchishandisa monochromator, chaiyo chokushandisa, izvo anosarudza padanho nehanya ganda.
• Danho rinotevera - munhu biopsy. Panyaya iyi, zvacho zviri kuongororwa mapundu paganda murwere.
• Zvinyama mimwe vakatorwa panguva biopsy histologically kuongororwa.

kurapwa nyaya

Kana murwere chirwere "xeroderma pigmentosum" mabatiro murwere - ichi chinokosha zvikuru. Somuenzaniso, mumwe munhu aizofanira mukanyatsochengeta mirayiridzo chiremba:

• Unofanira kushanyira dermatologist.
• In tanga aishingaira kushandiswa antimalarials (semuenzaniso, "delagil" kana "Rezohin") iro kuderedza aikanganiswa ganda kuti chiedza.
• Zviri rokumanikidzirwa kuti vhitamini kutsigira muviri. Pakadaro zvakafanira kutora nicotinic asidhi (vhitamini PP), retinol (vhitamini A izvozvo), uyewo mavhitaminzi dzakaoma kuti boka B.
• Kana ganda scaly flakes vari kuumbwa, vanofanira kupatsanurwa okuzora, iyo yakavakirwa ipapo corticosteroids.
• Kana pane nemburwa paganda, unofanira kushandisa mafuta pamwe cytostatics, chikuru basa - kudzivisa kumwe masero nokupesana.
• Apo neapo, varwere vanofanira kunwa antihistamines, mune mamwe mazwi, antiallergic vamiririri Somuenzaniso, "Tavegil" kana "Suprastin" kana desensitizing nevasori kuti attenuate neutachiona.
• With chinoshingaira zvainoita paganda murwere, semuenzaniso, muzhizha, murwere ushandiswe unodzivirira UV mumakenduru kana bhurandi.
• Kana pane ngozi nokuumbwa namamota, murwere inofanira kuverengwa kwete oncologist, asi nguva nenguva akaongorora boka rimwe vanachiremba: a dermatologist, imwe ophthalmologist uye chiremba wetsinga.
• Neoplasms ganda, kunyange warty, kubviswa surgically.