Xeroderma pigmentosum: izimbangela, izimpawu, incazelo kanye izici ukwelashwa

Namuhla, ukubukeka komuntu idlala indima enkulu. Kodwa, ngeshwa, kuyenzeka ukuthi ngezinye izikhathi emzimbeni ehluleka, nento emzimbeni iqala ukusebenza ngokuphelele njengoba kufanele. Kuyinto lolu daba, esithinta ukubukeka komuntu kuyinto xeroderma pigmentosum. Siyini ngempela lesi sifo futhi zonke ezibalulekile ngalesi sifo - lena futhi uzoqhubeka ke.

amagama

Ekuqaleni, kumelwe siqonde ukuthi kuyini. Ngakho, xeroderma pigmentosum - isifo esikhumbeni, okuyinto omkhulu sitholwa njengefa. Kulokhu, isikhumba womuntu awuwona hypersensitive elangeni. Ngokuqondene nalokhu, isimo samanje isiguli ngokuvamile udokotela okuthiwa precancerous. Uma sikhuluma kukhulunywa ngezokwelapha, lokhu zokugula - kuyinto autosomal isifo retsesivnoe DNA uma amaseli ngokwabo abakwazi ukulungisa izikhala noma amakhefu ku-molecule.

Yini enye okudingeka ukwazi mayelana uphethwe "xeroderma pigmentosum"? Imodi yefa, njengoba kushiwo ngenhla, retsesivny autosomal. Nokho, ososayensi uqaphele ukuthi kungaba autosomal ovelele, kodwa futhi ngokwengxenye exhumene chromosome ocansini.

Ezinye izibalo kanye nezici

Uma sikhuluma amazwe athuthukile, xeroderma pigmentosum wathola omunye umuntu ngamunye abakhileyo 1 million. Nokho, e-China bangamaphesenti ephakeme kakhulu - 1 isiguli ngasinye abakhileyo ayizinkulungwane 100. Abacwaningi baye baveza ukuthi lolu hlobo sifo libhekene ikakhulukazi imiphakathi elibiyelwe, amaqembu, okubizwa ngokuthi lehlukanisa, ezakhiwe izinkolelo ekhethekile (isibonelo, imiphakathi engokwenkolo). Futhi le nkinga zenani elikhulu eziyifa kanye sidlulile kumzali siye enganeni. Odokotela bathi lesi sifo futhi ngokuvamile kwenzeka endabeni imishado eduze igazi izihlobo.

Ukubukeka sifo

Kuyini xeroderma pigmentosum? On isikhumba umuntu ukwethula lesikhumba ekhethekile. Lokhu konke kwenzeka ngenxa yokuchayeka emisebeni ultraviolet esikhumbeni isiguli. Kodwa uma umsebenzi othize enzyme enempilo ukuthi ukuvimbela okuvela kuyo idatha izindawo, kulezi iziguli, awayona asebenzayo. Zonke iphutha - ukuguquka kwezakhi zofuzo amaprotheni ukuthi banesibopho izicubu emumva nethonya kangaka. amaseli soguquko lwegciwane singalawuleka kancane kancane buthelela emzimbeni, eliphumela umdlavuza wesikhumba oyingozi. Ngaphandle emisebeni ultraviolet, kufanele kuphawulwe, isikhumba nesineke futhi ayizwani nanoma radiology futhi (ionizing) evela ngaphandle.

Mayelana izinhlobo izifo

Ngizothanda futhi ukuthi wazi ukuthi kukhona izinhlobo ezahlukene xeroderma pigmentosum. Linani selilonkhe lebantfu labange eziyisikhombisa elahliwe futhi bayehluka izinhlamvu: A, B, C, D, E, F, G Ngamunye izinhlobo idatha yabelwe isakhi esithile asabekayo. Ikakhulukazi njengoba lo mehluko Namanje lafundvwako ososayensi. Ngaphezu kwalokho ukwaba uhlobo lwesishiyagalombili - pigmentosa kserodermoid Jung. Nokho, mangisho ukuthi kulesi simo isici esiyinhloko kanye alwaziwa.

symptomatology

Mangisho ukuthi lapho kuzalwa xeroderma pigmentosum isikhumba akuyona sitholakale. Izingane zizalwa evamile, akukho ukubonakaliswa extra esikhumbeni. Izimpawu zokuqala kuqale nokuqala ukwenzeka emhlabeni esikhathini izinyanga 3 - 3 ubudala, kodwa kungenzeka futhi ngaphambili noma kamuva uqale inqubo, kuncike potency we emisebeni ultraviolet. Izimpawu zokuqala, okuyinto azibonakalisa izingane:

• amehlo zamanzi;
• photophobia;
• kungenzeka conjunctivitis;
• lesi sifo ukuzibonakalisa photodermatitis.

On umzimba wengane zikhona izindawo like amavukuzi noma freckles. Kancane kancane, inani lawo likhuphuka. Lokhu kungenxa lesikhumba iziyaluyalu izinqubo. Ezinye izimpawu, okuyinto ke ziqala ukuvela:

1. Telangiectasia, okusho izitsha isikhumba uvuleke.
2. Kungaba hyperkeratosis, lapho amangqamuzana ehlukana ngokushesha okukhulu, futhi izinqubo desquamation engasenamahloni. Ngenxa yalokho, kungenzeka isikhumba actinic.
3. Luyanda ukoma kwesikhumba.

emitholampilo isithombe

Ngu isikhumba zofuzo izifo yilezo izifo: xeroderma pigmentosum, reticular melasma lesichubekako, melasma Peak ukuthi, eqinisweni, yilokho sifo. Isithombe emitholampilo ihlukaniswe izinhlobo ezintathu eziyinhloko:

1. Okuvuthayo. On yomzimba avele izindawo like freckles. Kancane kancane kukhona izikali, efana lentigo.
2. Giperkeraticheskaya esiteji. On the isikhumba kuthiwa yanjalo kwakhiwa neziqhingana ka amahlukuzo freckles, ishq, lentigo uhlobo izakhi. Konke ukhumbuza isithombe ezingamahlalakhona dermatitis ngemisebe. Ngezinye izikhathi kungase kube warty imfundo. Zonke lezi zinguquko atrophic kancane kancane deplete ekhaleni hryaschik, izindlebe, orifices yemvelo ingase zikhubazekile. Futhi kulesi sigaba kungenzeka impandla, ukulahlekelwa eyelashes. I-cornea bangaba liguqubele kukhona photophobia, futhi lacrimation.
3. Ngesikhathi esigabeni yokugcina inkinga umdlavuza uya phesheya. On the isikhumba kukhona kokubili izimila benign nesibulalayo.

izici zezinzwa

Cishe umuntu oyedwa kweziguli ezinhlanu nge sitholakele kwezinso zezinzwa kuyagcinwa. Kungase kube retardation engqondo, areflexia (akukho zibona). Kubalulekile futhi ukuqaphela ukuthi pigmentosum xeroderma ngokuvamile kubabangele izifo ezifana:

• Reed Syndrome, lapho ingasheshi ekukhuleni skeleton, ugebhezi kuyehla, kukhona ukubambezeleka ekuthuthukiseni ngokomzimba nangokwengqondo.
• Syndrome De Sanctis-Kakkone lapho ukushayisana isimiso sezinzwa esiyinhloko kubonakala khona nge ukubonakaliswa isikhumba.

Izimbangela isifo

Yini odinga ukuyazi mayelana nenkinga efana xeroderma pigmentosum? Ubangela, izimpawu zesifo? Uma izenzo isifo zonke ecacile, bese kuba yisikhathi ukuthola ukuthi yini ncamashi icuphe ukubukeka kwayo. Njengoba siye saba sobala, kuba isakhi kuguquka ekhethekile, lapho nkinga isakhi sofuzo autosomal ukuthi sidlulile kubazali. Futhi kumaseli nesineke entula UV-endonuclease enzyme kungenzeka RNA polymerase ukuntula. Abacwaningi bathi imbangela zokugula kungenzeka ukwanda imvelo yomuntu porphyrins enzyme yemvelo ekhethekile, okuyinto zibulale isikhumba.

ukuhlola

Ukuhlobana xeroderma pigmentosum namuhla impela high. Phela, abantu abaningi ozama ukuya ilanga kaningi, ke akesabi ukuchayeka UV imisebe. Futhi akulungile. Ngisho noma umuntu futhi akusho zisongele isifo, isikhumba engcono kancane adalule asebenzayo emisebeni yelanga. Kungenzeka kanjani ukuthola lesi sifo?

• Ukuhlola isikhumba usebenzisa monochromator, ithuluzi ekhethekile, okuyinto inquma lizinga ukuzwela kwesikhumba.
• Isinyathelo esilandelayo - a biopsy. Kulokhu, izinhlayiya uphenyo izimila esikhumbeni isiguli.
• amasampula Tissue athathwa ngesikhathi histologically biopsy uphenyo.

nezindaba ukwelashwa

Uma isiguli sekutholakele ukuthi sine- "xeroderma pigmentosum" ekwelapheni isiguli - lokhu kubaluleke kakhulu. Ngokwesibonelo, umuntu kuzofuneka ukuthi ngokuqinile landela imiyalelo kadokotela:

• Udinga ukuvakashela udokotela.
• Okwakuhlalwa kuzo lapho kusaqalwa ngenkuthalo esetshenziswa antimalarials (isb, "delagil" noma "Rezohin") okuyinto ukunciphisa ukuzwela kwesikhumba ukuze ukukhanya.
• Kuyinto ayimpoqo uvithamini ukusekela umzimba. Esimweni esinjalo kubalulekile ukuthatha nicotinic acid (uvithamini PP), retinol (uvithamini A ke), kanye namavithamini eyinkimbinkimbi iqembu B.
• Uma akhiwa ishq isikhumba zibe maholoholo, kumele kusetshenzwe yokugcoba, okuncike khona corticosteroids.
• Uma kukhona warts esikhumbeni, une ukusebenzisa wamafutha nge cytostatics, umsebenzi oyinhloko - ukunqanda ukuhlasela kwezinye cell division.
• Ngezikhathi ezithile, abantu abanaso kufanele baphuze antihistamine, ngamanye amazwi, ama-ejenti antiallergic, isibonelo, "Tavegil" noma "Suprastin" noma desensitizing ejenti ukuthi attenuate komzimba.
• Nge umphumela asebenzayo on isikhumba isiguli, isib, ehlobo, isiguli ezinqunyiwe zokuzivikela UV okhilimu noma izifutho.
• Uma kukhona usongo ekwakhekeni izimila, isiguli kufanele zibhaliswe hhayi kuphela oncologist, kodwa futhi ngezikhathi zihlolwe iqembu nezinye Ochwepheshe: wesikhumba, kudokotela wezifo zamehlo futhi isazi sezinzwa.
• Neoplasms kwesikhumba, ngisho warty, zisuswe surgically.