Xeroderma pigmentosum: zimayambitsa, zizindikiro, zimene ndi makhalidwe a mankhwala

Lero, maonekedwe a munthu n'chofunikira kwambiri. Koma, mwatsoka, izo zimachitika kuti nthawi zina thupi sichitha, ndi chinachake mu thupi limayamba liziyenda kwathunthu monga kuyenera. Ndi nkhani iyi, kumene kumakhudza maonekedwe a munthu xeroderma pigmentosum. Kodi matenda ndi onse ofunika kwambiri za matenda - izi ndi adzapitiriza izo.

terminology

Poyamba tiyenera kumvetsa chimene icho chiri. Choncho, xeroderma pigmentosum - matenda a khungu, amene ali cholowa. Pankhaniyi, khungu anthu ndi hypersensitive dzuwa. Mogwirizana ndi zimenezi, mkhalidwe wamakono wa wodwalayo zambiri dokotala amatchedwa precancerous. Ngati ife kulankhula mu zamankhwala, kudwala izi - ndi autosomal matenda retsesivnoe DNA pamene maselo paokha sangathe kukonza mipata kapena yopuma mu mamolekyulu lapansi.

Kodi china chimene muyenera kudziwa za matenda "xeroderma pigmentosum" chiyani? mode cholowa monga zanenedwa pamwambapa, autosomal retsesivny. Komabe, asayansi kuona kuti akhale autosomal lalikulu, komanso mwina zogwirizana DNA kugonana.

Ena ziwerengero ndi makhalidwe

Ngati ife kulankhula za m'mayiko olemera, xeroderma pigmentosum anapeza munthu wina pa anthu 1 miliyoni. Komabe, mu China wodziwika ndi apamwamba kwambiri - 1 mtima pa anthu 100 sauzande. Ofufuzawa amanena kuti mtundu uwu wa matenda amakhala makamaka m'madera gated magulu otchedwa cholekanitsa, popangidwa ndi zikhulupiriro wapadera (Mwachitsanzo, anthu opembedza). Komanso, vutoli ndi cholowa ndiponso wadutsa kuchokera kholo mwana. Madokotala amanena kuti matenda ndi zambiri amapezeka mu nkhani ya maukwati a achibale magazi.

Maonekedwe a matenda

Kodi xeroderma pigmentosum? Pa khungu la munthu azipereka mtundu wapadera. Izi zonse zimachitika chifukwa cha kukhudzana ndi cheza ultraviolet pa khungu la wodwalayo. Koma ngati wathanzi ntchito yeniyeni michere kuti kuteteza zosayembekezereka deta mawanga, odwala awa, iwo ali sachita. vuto onse - masinthidwe mapulotini ali ndi udindo minofu kuchira pambuyo zimakhudza. maselo Mutated pang'onopang'ono kudziunjikira mu thupi, amene zimachititsa khansa ya pakhungu. Kuwonjezera cheza ultraviolet, tisaiwale, khungu la wodwalayo komanso msanga kuti radiological ndi (ionizing) cheza.

Za mitundu ya matenda

Ndikufuna kuona kuti pali mitundu yosiyanasiyana ya xeroderma pigmentosum. A okwana asanu yekha, ndipo amasiyana makalata: A, B, C, D, E, F, G. Aliyense wa mitundu deta anatumizidwa ku makamaka ZOOPSA mbewu. Makamaka kusiyana awa ali akuphunziridwa asayansi. Komanso kuonetsetsa mtundu chitatu - pigmentosa kserodermoid Jung. Komabe, ndiyenera kunena kuti mu nkhani iyi chilema chachikulu ndi silidziŵika.

symptomatology

Ine ndiyenera kunena kuti pa kubadwa kwa xeroderma pigmentosum khungu si matenda. Ana amabadwira wabwinobwino, palibe mawonetseredwe owonjezera pa khungu. Zizindikiro chiyamba kuchitika pa nthawi miyezi 3 - zaka 3, koma n'zotheka ndi kale kapena pambuyo kuyamba ndondomeko, malingana potency cheza ultraviolet. Zizindikiro woyamba, umene zimapezeka ana:

• madzi maso;
• photophobia;
• zotheka conjunctivitis;
• matenda angasonyeze photodermatitis.

Pa thupi mwana pali mawanga monga timadontho-timadontho kapena madontho madontho. Pang'onopang'ono, chiwerengero chawo chinawonjezeka. Ichi ndi chifukwa mtundu matenda njira. Zizindikiro zina zomwe kuonekere:

1. Telangiectasia, mwachitsanzo ziwiya khungu dilate.
2. Zingakhalenso hyperkeratosis, pamene maselo kugawanitsa mofulumira kwambiri, ndi njira ya desquamation imathetsa. Choncho, izo zingachitike khungu actinic.
3. Kodi kuchuluka dryness wa khungu.

chithunzi matenda

Ndi khungu majini matenda ndi matenda awa: xeroderma pigmentosum, reticular mwapang'onopang'ono melasma, melasma Peak kuti, Ndipotu, nthenda yomweyo. Chithunzi matenda lagawidwa zitatu zikuluzikulu:

1. Yotupa. Pa khungu poyera kuoneka mawanga ngati madontho madontho. Pang'onopang'ono pali mamba, ofanana lentigo.
2. Giperkeraticheskaya siteji. Pa khungu alternately anapanga Zilumba za masango madontho madontho, flakes, zinthu lentigo mtundu. Chirichonse akukumbutsa chithunzi cheza aakulu dermatitis. Nthawi zina pangakhale warty maphunziro. Zonsezi atrophic pang'onopang'ono kuchepetseratu mphuno hryaschik, makutu orifices chachibadwa opunduka. Komanso pa nthawi imeneyi n'zotheka dazi, imfa ya nsidze. The diso akhoza kukhala mitambo, pali photophobia, ndi lacrimation.
3. Pa gawo lotsiriza la vuto khansa amapita kunja. Pa khungu pali onse chosaopsa ndi zilonda zotupa.

mbali minyewa

Pafupifupi odwala asanu ndi matenda a kuvutika ubongo ali anaona. Mwina retardation maganizo, areflexia (palibe mawunikidwe). M'pofunikanso kukumbukira kuti xeroderma pigmentosum zambiri zinadzala ndi matenda:

• syndrome Reed, pamene liwiro kukula kwa mafupa a, chigaza yafupika, pali kuchedwa kukula thupi ndi m'maganizo.
• Syndrome De Sanctis-Kakkone pamene monyanyira mu chapakati mantha dongosolo akuwonetseredwa ndi mawonetseredwe khungu.

The zimayambitsa matenda

Kodi muyenera kudziwa za vuto monga xeroderma pigmentosum? Amachititsa, zizindikiro za matenda? Ngati maonekedwe a matenda onse bwino, ndiye ndi nthawi kupeza zomwe ndendende akapsa maonekedwe ake. Monga chikuonekera, ndi wapadera jini kusintha, pamene zikuoneka kuti ndi autosomal jini imene wadutsa kuchokera kwa makolo. Komanso maselo wodwala akusowa UV-endonuclease enzyme kungakhale RNA polymerase akusowa. Ofufuzawa amanenanso kuti chifukwa cha kudwala mwina kuwonjezeka mu chilengedwe anthu porphyrins wapadera zachilengedwe michere, amene kusokoneza khungu.

diagnostics

Kufunika kwa xeroderma pigmentosum lero si mkulu. Ndipotu anthu ambiri akuyesera kuti apite kwa dzuwa zambiri, si mantha kukhudzana ndi UV kunyezimira. Ndipo izo ziri zolakwika. Ngakhale ngati munthu ndipo alibe zingasokoneze matenda, khungu ndi bwino asang'ambe poyera yogwira dzuwa cheza. Kodi n'zotheka kudziwa matenda?

• mosamala khungu ntchito monochromator, chida wapadera, amene amasankha mlingo wa tilinazo khungu.
• Chotsatira - ndi biopsy. Pankhaniyi, particles ali ankafufuza zotupa pa khungu la wodwalayo.
• zitsanzo minofu unatengedwa pa biopsy histologically ankafufuza.

nkhani chithandizo

Ngati wodwala matenda ndi "xeroderma pigmentosum" mankhwala wodwala - izi ndi zofunika kwambiri. Mwachitsanzo, munthu angakhale nako mosamalitsa malangizo a dokotala:

• Muyenera kukaona dermatologist.
• Mu magawo oyambirira mwakhama ntchito antimalarials (mwachitsanzo, "delagil" kapena "Rezohin") zomwe kuchepetsa tilinazo khungu kuwala.
• Ndi mokakamizidwa kwa vitamini kuthandiza thupi. Zikatero m'pofunika kutenga asidi nicotinic (vitamini PP), retinol (vitamini A izo), komanso mavitamini zovuta za gulu B.
• Ngati flakes khungu wazikang'a anapanga, ayenera kukonzedwa zodzola, zomwe ndi zochokera kumeneko corticosteroids.
• Ngati pali njerewere pa khungu, uyenera kugwiritsa ntchito mafuta ndi cytostatics, ntchito yaikulu - kuteteza zina magawano selo.
• Nthawi zina odwala ayenera kumwa mankhwala, mwa kulankhula kwina, antiallergic wothandizira, mwachitsanzo, "Tavegil" kapena "Suprastin" kapena zakupha chikumbumtima nthumwi kuti attenuate thupi lawo siligwirizana.
• Ndi zotsatira yogwira pa khungu la wodwala, mwachitsanzo, mu chilimwe, wodwalayo Kwalamulidwa zoteteza UV creams kapena opopera.
• Ngati pali kuukira mapangidwe zotupa, wodwala ayenera mayina osati oncologist, komanso nthawi inali itakwana gulu la akatswiri ena: a dermatologist, ndi maso ndi matenda okhudza ubongo.
• Neoplasms wa khungu, ngakhale warty, kuchotsedwa opaleshoni.