Xeroderma pigmentosum: take, tohu, whakaahuatanga me ngā āhuatanga o te maimoatanga

I teie mahana, ahua o te tangata whai wāhi nui. Ko, kāore, tupu te reira e te tahi mau taime kore te tinana, me te tahi mea i roto i te tinana tīmata ki te mahi tino rite kia reira. Ko tenei take, e pā ahua o te tangata, ko te pigmentosum xeroderma. He aha te mea tenei mate, me te taua nui katoa e pā ana ki te mate - ko tenei, a ka haere tonu i te reira.

kupu

I te tīmatanga, e ti'a ia tatou matau he aha te mea te reira. Na, pigmentosum xeroderma - he mate o te kiri, i te mea tuku iho. I roto i tenei take, he hypersensitive ki te rā kiri tangata. I roto i te hononga ki tenei, ko maha te huru hakari o te manawanui te tākuta i huaina precancerous. Ki te kōrero tatou i roto i ngā hauora, tenei māuiuitanga - ko te DNA mate retsesivnoe autosomal ka kore e taea e ngā pūtau ratou te whakatika ngā āputa pakaru ranei i roto i te rāpoi ngota.

He aha atu e hiahia ana koe ki te mohio e pā ana ki te tātaritanga "xeroderma pigmentosum"? aratau o tupu, kua rite kua mea i runga, retsesivny autosomal. Heoi, mōhio kaipūtaiao kia autosomal tino, engari wahi hono ano hoki ki te pūira takoto.

Ētahi tatauranga me ngā āhuatanga

Ki te kōrero tatou e pā ana ki whenua whakawhanakehia, kitea xeroderma pigmentosum kotahi tangata ia 1 miriona tangata. Heoi, i roto i Haina he nui teitei te ahua - 1 manawanui ia 100 mano tangata. tohu ano nga kairangahau i taua āhuatanga i tēnei puka o te mate te nuinga mo hapori uipa, ngā rōpū, te tu ke pera-ka karanga, i hanga e te mau ti'aturiraa motuhake (hei tauira, hapori fakalotu). Ano, he tuku tenei raruraru me te haere i te matua ki te tamaiti. Doctors mea e he maha ano hoki tenei mate puta i roto i te take o te mau faaipoiporaa o whanaunga toto tata.

Ko te ahua o te mate

He aha te mea xeroderma pigmentosum? I runga i te kiri o te tangata tapaea ähua motuhake. tupu katoa tenei rite ki te hua o te rongo ki te radiation hihi katinga i runga i te kiri o te manawanui. Otiia ki te mea he whākōkī mahi motuhake hauora e ārai i te takanga o wahi raraunga, i roto i enei tūroro, e kore e kaha ratou. te hara ki katoa - ngā irakētanga i roto i te pūmua e he kawenga mō te kiko ora i muri i te pānga taua. pūtau mutated āta kohikohi i roto i te tinana, i hua i roto i te mate pukupuku kiri. Haunga radiation hihi katinga, kia tuhia te reira, ko ano hoki te kiri o te manawanui rawa tairongo ki radiological me (ionizing) radiation.

Mō te momo o mate

hiahia ana ano ahau ki te mōhio e reira he momo rerekē o te xeroderma pigmentosum. He katoa o e whitu taratahi, a rerekē ratou pukapuka: A, B, C, D, E, F, G. ia o nga momo raraunga whakaritea ki te ira ngā mutant. Rawa rite kei te tonu enei rerekētanga te ako e te pūtaiao. I tua atu tohatoha i te momo waru - pigmentosa kserodermoid Jung. Heoi, me ahau mea e i roto i tenei take i te koha tuatahi, me te kore e mohiotia.

tohutanga

Me mea e ahau e i te whanautanga o xeroderma pigmentosum kiri e kore e pāngia. E whanau pēpi noa, kahore he faaiteraa anō i runga i te kiri. timata nga tohu tuatahi ki te puta a tawhio noa te wa o te 3 marama - 3 tau, engari he reira taea, me te mua ranei i muri tīmata te tukanga, i runga i te mananga o te radiation hihi katinga rānei. Ko te tohu tuatahi, e faaite mai ratou i roto i ngā tamariki:

• kanohi waiwai;
• photophobia;
• pīkaru taea;
• te mate e taea faaite mai ano photodermatitis.

I te tinana o te tamaiti i reira he wahi rite kiore freckles ranei. Āta, faarahi ratou tau. he tika ki te ähua disorders tukanga tenei. Ētahi atu tohumate, e ka timata ki te puta:

1. Telangiectasia, wewiti arā oko kiri.
2. Ka taea hoki e te reira i hyperkeratosis, ka rawa hohoro wehe ngā pūtau, me nga tukanga o te desquamation leva. Nā tēnei, kia puta ai kiri actinic.
3. Kei te nui haere maroke o te kiri.

pikitia haumanu

Na roto i te kiri ira mate ko te hunga mate: xeroderma pigmentosum, reticular melasma ahu whakamua, Peak melasma e, i roto i te hono mo'oní, ko te mate ano. Kei te wehea te pikitia haumanu ki toru ngā momo matua:

1. Inflammatory. I te kiri kitea puta wahi rite freckles. Āta reira he unahi, rite ki te lentigo.
2. Giperkeraticheskaya atamira. I runga i te kiri e tētahi hanga e moutere o tautau o freckles, tawerewere, momo lentigo huānga. fakamanatu katoa pikitia o dermatitis radiation ma'i. I te tahi taime i reira kia kia mātauranga warty. enei huringa atrophic katoa āta te whaiwhaiā ihu hryaschik, taringa, kia hauā orifices tūturu. Ano hoki i tenei wā ko reira pakira taea, mate o eyelashes. Ka taea e te taupoki io hei kapua, i reira he photophobia, me lacrimation.
3. I te wā whakamutunga o te raruraru mate pukupuku haere ki waho. I runga i te kiri i reira e rua puku mārire, me te mārere.

āhuatanga neurological

Mō tetahi i roto i te rima ngā tūroro ki te tātaritanga o abnormalities neurological e kitea. Kia retardation hinengaro, areflexia (kahore whakaaro huritao). He nui ano hoki te reira ki te mōhio e te pigmentosum xeroderma maha mahi wehe ki taua mate:

• syndrome o Reed, ka tērā iho te tupu o te kōhiwi, heke te angaanga te, i reira te mea he whanaketanga tinana, me te hinengaro roa.
• Syndrome De Sanctis-Kakkone ka whakakitea kōtītiti i roto i te pūnaha io pokapū ki faaiteraa kiri.

Ko te take o te mate

He aha e hiahia ana koe ki te mohio e pā ana ki te raruraru pērā i xeroderma pigmentosum? Ai, tohu o te mate? Ki te nga faaiteraa o te mate mārama katoa, na ko reira te wa ki te kitea i roto i te mea rite pāngia e tona ahua. Ka rite ki meinga, kua mārama, he reira he irakētanga ira motuhake, ka te kaiwero, ko te ira autosomal haere e te i te mau metua. Hoki i roto i ngā pūtau manawanui ngaro UV-endonuclease paru kia hē polymerase RNA. mea hoki nga kairangahau e kia te take o te māuiuitanga he hua i roto i te taiao tangata porphyrins whākōkī tūturu motuhake, e pēhia ngā te kiri.

tātaringa

Ko te hāngaitanga o te xeroderma pigmentosum mo tenei ra, ko te tino nui. I muri i te katoa, e tamata atu me te ake iwi ki te haere ki te ra atu maha, e kore he reira wehi o te rongo ki hihi UV. A te reira he. Ahakoa, ki te kahore te tangata, me te e whakawehi te mate, ko pai te kiri ki te maka atu minimally te radiation solar hohe. Me pehea ka taea ki te kitea tenei mate?

• whakamātautau o te kiri mā te whakamahi i te monochromator, he taputapu motuhake, e whakatau i te taumata o te tūtohutanga o te kiri.
• Ko te mahi i muri mai - i te unuhanga. I roto i tenei take, kua tūhuratia te matūriki puku i runga i te kiri o te manawanui.
• tangohia tauira kikokiko i roto i te histologically unuhanga uiui.

take maimoatanga

Ki te pāngia tetahi manawanui ki "xeroderma pigmentosum" maimoatanga o te manawanui - ko te tino nui tenei. Hei tauira, e whai i te tangata ki te whai i tino tohutohu o te tākuta:

• Me koe ki te haere ki te dermatologist.
• I roto i te tīmatanga o nga wāhanga kaha whakamahia antimalarials (hei tauira, "delagil" ranei "Rezohin") e whakaiti te tūtohutanga o te kiri ki te marama.
• Ko reira mātua ki te huaora ki te tautoko i te tinana. I roto i te take i taua he mea e tika ana ki te tango i te waikawa nicotinic (huaora PP), retinol (huaora A reira), me te huaora matatini o te rōpū B.
• Ki te hanga e te tawerewere kawe kiri, me te tukatuka ratou hinu, e kua hāngai ki reira corticosteroids.
• Ki te mea i reira he kiritona i runga i te kiri, whai koe ki te tono i te hinu ki cytostatics, te mahi matua - ki te ārai atu wehenga pūtau.
• Wā, me tūroro inu antihistamines, i roto i te kupu atu, māngai antiallergic, hei tauira, "Tavegil" ranei "Suprastin" ranei desensitizing āpiha e attenuate tauhohe mate pāwera.
• Ki te pānga kaha i runga i te kiri o te manawanui, hei tauira, i roto i te raumati, whakaritea te manawanui kei te aihikirīmi UV paruru Tāhorongia ranei.
• Ki te kahore he he riri ki te hanganga o te pukupuku, me te rēhita te manawanui e kore e anake i roto i te matepukupuku rānei, engari ano ia wā tirotirohia ana te rōpū o te tahi atu tohunga: he dermatologist, he ophthalmologist me te toketā neave.
• Neoplasms o te kiri, tae noa warty, ki te nekehia atu hāparapara.