Xeroderma pigmentosum: mea, lalau mai, symptoms, hōʻikeʻano a me nā 'ano o ka hana

I kēia lā, he kanaka ka helehelena Radio he kūlana nui. Akā, Eia naʻe, ka mea hana i kekahi manawa i ke kino ke aloha, a me kekahi mea i loko o ke kino hoʻomaka e Launch loa me ka mea pono. He kēia pukana, a e loli ai ke kanaka i ka helehelena o xeroderma pigmentosum. He aha ka i kēia maʻi, a pau na mea nui e pili ana i ka maʻi - keia mea, a, e hoʻomau ia.

terminology

Initially, ua pono ike i ia mea. No laila, xeroderma pigmentosum - he maʻi o ka ili, i mea hereditary. Ma keia hihia, kanaka ili mea hypersensitive ke Map. Ma pili ana i keia, i ka manawa ana o ka hoʻomanawanui Ua pinepine ke kauka i kapaia precancerous. Inā mākou e'ōlelo i loko o 'inikua hua'ōlelo, keia pathology - mea he autosomal maʻi retsesivnoe DNA ka wā keena lakou hiki ole koho i wāhiʻia paha, mai hemo mai ma na nā lātoma.

He aha aʻe 'oe pono e ike e pili ana i kaʻike, "xeroderma pigmentosum"? ano o ka hooilina, e like me ua olelo mai ma luna, autosomal retsesivny. Eia naʻe, e hoailona oukou epekema i i e autosomal Hoʻohaku, akā, he nawaliwali kekahi ua hoʻopili pū i ka wahine chromosomes.

Kekahi mau 'ikepili helu a me nā' ano

Inā mākou e kamailio e pili ana i ke kino'āina, xeroderma pigmentosum loaʻa kekahi kanaka no 1 miliona poʻe e noho ana. Eia naʻe, ma Kina i ka huahelu mea nui kiekie ae - 1 hoomanawanui no 100 tausani poʻe e noho ana. Ke noiʻi i kuhikuhi mai i kēia palapala no ka maʻi ua wehewehe akuʻano nui no, haʻalele akula ka noho 'ana, nā pūʻulu, ka ai-kapaia isolates, i hanaʻia e kekahi kūikawā hilinaʻi (no ka laʻana, haipule nā kaiāulu). Nō hoʻi, i kēia pilikia mea hereditary, a ua hala aku mai ka makua i ke keiki. Kauka i aku nei au i kēia maʻi o kekahi pinepine ia lŘlŘ i loko o ka hihia o ka mare o kokoke mau pili koko.

Keʻano o ka maʻi

He aha ka xeroderma pigmentosum? Ma kaʻili o ke kanaka hoike kuikawa pigmentation. Keia a pau ka hana me ka hopena o ka waiū i ultraviolet pāhawewe ma ka ili o ka hoʻomanawanui. Akā, inā he olakino hana i ho'ākāka 'nā'ūhū e pale aku i ka hanana o ke kiko aeaiiua, i loko o kēia mau hoʻomanawanui iki mai, ka mea, i ole kaila. A pau o ka hewa - mutations i loko o nā polokina i nā kuleana no ka'aʻaʻa koi ma hope o ia ka hopena. Mutated aeee ke kiʻekiʻe o loaa i loko o ke kino, i nā hualoaʻa ma ka ili maʻi 'aʻai. Ma waho ultraviolet pāhawewe, ia e ke kaulana, o kekahi o ka ili o ka hoʻomanawanui kokoke ikepili koʻikoʻi i radiological a (ionizing) pāhawewe.

About na ano o ka maʻi

I makemake kekahi makemake e hoailona oukou i ka loaʻa i ke ano okoa o ke xeroderma pigmentosum. A huina o ehiku kaʻawaleʻana, a me ka mea, oko palapala: A, B, C, D, E, F, G. kēlā me kēia no ka ikepiliʻAno ia i ka kekahi mutant'ōewe. No like kēia mau oko ao i keia manawa, ua aʻoʻia e kānakaʻepekema. Eia kekahi kālā līkaia no ka walu o ka type - pigmentosa kserodermoid Jung. Eia naʻe, au pono aku nei au i loko o keia hihia i ka iniiaiie kina a me ka ua i ikeia.

symptomatology

Au pono e olelo aku nei ia ma ka hanau ana o xeroderma pigmentosumʻili ua ole diagnosed. Keiki i hanau maʻamau,ʻaʻole nō he keu hoike ana mai ma ka ili. Ka mua symptoms hoʻomaka e ana a puni o ka manawa o ka 3 mahina - 3 makahiki kahiko, akā, he mea hiki, a mamua aku paha ma hope hoʻomaka i ke kaʻina hana, ke kaumaha ma muli o ka potency o ultraviolet pāhawewe. Ka mua symptoms, i hoike mai ai ia lakou iho i poe keiki:

• lua mau maka;
• photophobia;
• hiki conjunctivitis;
• i ka maʻi ke hoike iho photodermatitis.

Ma ke kino ke keiki ka loaʻa pūkoʻa ia mau mea e like iole a me freckles. Ua, kā lākou helu maoli. Kēia mea ma muli o ke pigmentation kāna hana keʻano o ka hanaʻana. Other symptoms, a laila, hoʻomaka e hōʻike:

1. Telangiectasia, oa ili moku dilate.
2. Ua hiki no hoi e hyperkeratosis, ka wā keena mahele nui koke, a me ka keʻano o ka hanaʻana o ka desquamation inhibited. Nolaila, ka mea i hoʻomaka ai actinic ili.
3. Ua mahuahua dryness o ka ili.

lapaʻau kiʻi

Ma aaiaoe ili mai nō ia mau maʻi: xeroderma pigmentosum, reticular e holumua ai melasma, melasma TFX mea, ma ka mea, o ka mea ia maʻi. Ka lapaʻau kiʻi Ua maheleia i loko o ka papa kuhikuhi hoailona ia mea ekolu:

1. Hoʻoʻino. Ma hooleiiaʻi mawaho ili ikea pūkoʻa ia e like freckles. Ua loaʻa nā unahi, like i ka lentigo.
2. Giperkeraticheskaya ke kahua. Ma ka ili e alternately hana islets o nā huhui waina a lākou o nā freckles, flakes, lentigo type hehee wale. A pau ka nani a kiʻi o ka maʻi pāhawewe dermatitis. I kekahi manawa, loaʻa paha e warty hoʻonaʻauao. A pau kēia mau loli atrophic i nā deplete hryaschik ihu, pepeiao, ma kona ano maoli orifices i ke ino. No hoi i keia kahua ia mea hiki'ōhule, poho o ka lihilihi. Ke cornea ke lilo ao, he mea photophobia, a me ka lacrimation.
3. Ma ka hope ke kahua o ka maʻi 'aʻai pilikia hele wale aku no. Ma ka ili loaʻa nō nā benign a me ka malignant hikoko.

neurological hiʻona

About kekahi i ka elima hoʻomanawanui iki mai i kaʻike, o neurological abnormalities i malama. Paha e noʻonoʻo retardation, areflexia (ʻaʻohe Hōʻuluʻulu Manaʻo E). Ua mea i nui, e hoailona oukou i ka xeroderma pigmentosum pinepine fraught me na maʻi:

• Reed ka maʻi pale, i ka wa a ka meheu o ia i ka ulu ana o ka iwi, ua hoemiia ka puniu wale no, aia no ke kali hou aku ke kino a me ka noʻonoʻo 'ulu.
• Maʻi pale De Sanctis-Kakkone wā paewaewa ma ka Central ko mākou hopohopo'ōnaehana hoike aku me ka ili hoike ana.

Nā kumu o ka maʻi

He aha kou pono e ike e pili ana ia i ka pilikia e like me xeroderma pigmentosum? Ke kumu no, symptoms o ka maʻi? Inā na hoikeana o ka maʻi a pau ike, alaila ia ka manawa e loaʻa mai nā mea e like triggers kona helehelena. E like me ua lilo akaka, ia mea he kūikawā'ōewe mutation, i ka wa a ka culprit mea he autosomal'ōewe i ua maalo ae mai na makua. Nō hoʻi ma ka hoʻomanawanui keena nele UV-endonuclease'ūhū paha e RNA polymerase deficiency. Ke noiʻi hoi aku nei au i ka aoao o ka pathology i e ka ulu i loko o ka kanaka i hoʻolilo 'ia porphyrins kūikawā maoli nā'ūhū, a he kūlana maikaʻiʻole i ka ili.

lapaʻau '

I ka pilina o ka xeroderma pigmentosum no keia mea he kiʻekiʻe. Ma hope o nā mea a pau, nui a me ka nui kanaka e ho'āʻo ana e hele aku i ka la nui pinepine, ia mea i makau o ka waiū e UV kukuna. A he hewa. Oia hoi, ina aole ia i olelo hooweliweli aku i kekahi kanaka, a me ka maʻi, i ka ili mea pono e minimally kiola aku la i ka hana pāhawewe lā. Pehea la e hiki ai e huai ae i kēia maʻi?

• ka ninaninau ana i ka ili ka hoʻohana 'ana i ka monochromator, he kūikawā mea paahana, a hoʻoholo i ka nui o ka pā lonoaʻili o ka ili.
• Na kekahi mua - he biopsy. Ma keia hihia, e hoʻokolokolo i ka (particles) hikoko ma luna o kaʻili o ka hoʻomanawanui.
• Ua lawe'aʻaʻa Eia kekahi laʻana i ka biopsy histologically hoʻokolokolo.

lapaʻau nāna e hoʻopuka i

Inā diagnosed he hoomanawanui me "xeroderma pigmentosum" lapaau o ka hoʻomanawanui - keia mea loa nui. No ka laʻana, makemake i kekahi kanaka no ka ikaika hahai i ke kauka ka kauoha:

• Oe Pono e kipa i ka dermatologist.
• I ke kakahiaka nui kahua o ka hoʻonaʻauao 'Imi hoʻohana antimalarials (e laʻa me, "delagil" a me "Rezohin") a emi i ka pā lonoaʻili o kaʻili i ka malamalama.
• He muli o ke wikamina e kākoʻo i ke kino. Ma ia he hihia hoi e pono ke lawe nicotinicʻakika (wikamina PP), retinol (wikamina A ia), e like me luna 'nā wikamina o ka pae B.
• Inā ka ili scaly flakes i hana, ka mea pono e hoʻokō 'ia me ka hinu, a i ka nānā' ana ma laila corticosteroids.
• Inā he mau warts ma luna o kaʻili, āu i e pili i ka poni a me cytostatics, i ka papa kuhikuhiE hana - e pale hou aeea mahele.
• Kēlā wā i kēia wā, e inu nā mea maʻi antihistamines, i loko o nā hua'ōlelo, antiallergic konohiki, no kekahi laʻana, "Tavegil" a me "Suprastin" a desensitizing konohiki i attenuate allergic reactions.
• Me kaʻeleu ia ma luna o kaʻili o ka hoomanawanui, e laʻa me, i loko o ke kau, i ka hoʻomanawanui ua kuhikuhi aiiay UV holika paha paipu,.
• Inā he mea i hoʻoweliweli 'ana i ke kahua o ka hikoko, pono e kakau i ka hoʻomanawanui i loko o ka oncologist wale, akā, i kekahi manawa nānā' ia ai kekahi pūʻulu o nā hoʻomalu: he dermatologist, he ophthalmologist a me ka neurologist.
• Neoplasms o kaʻili, a hiki warty, e e wehe surgically.