ʻO ka loaʻa ʻana o ka maʻi i hoʻoili ʻole ʻia i kapa ʻia ʻo xeroderma pidementosum (XP), ua pilikia nā keiki o ka mahina i ka hypersensitivity i ka radiation ultraviolet, kahi e pale ai iā lākou mai ka ʻike ʻana i ka lā. I ka loaʻa ʻole o ka pale piha, loaʻa lākou i ka maʻi maʻi ʻili a me ka pōʻino o ka maka, i kekahi manawa pili me nā maʻi neurological. Ua holomua ka hoʻokele ʻana akā ʻaʻole maikaʻi ka wānana a paʻakikī ka maʻi e noho me kēlā me kēia lā.

Definition

ʻO ka Xeroderma pigmentosum (XP) kahi maʻi ʻano ʻano ʻano ʻike ʻia e ka naʻau loa i ka radiation ultraviolet (UV) i loaʻa i ka lā a me kekahi mau kumu kukui hana.

Hiki i nā keiki i ma'i ke ho'opō'ino i ka 'ili a me ka maka me ka li'ili'i o ka 'ike 'ana i ka lā, a hiki ke loa'a ka ma'i 'ili i nā keiki li'ili'i loa. Hoʻopili ʻia kekahi mau ʻano o ka maʻi me nā maʻi neurological.

Me ka ʻole o ka pale ʻana i ka lā, ʻoi aku ka lōʻihi o ke ola ma mua o 20 mau makahiki. Ke koi ʻia e hele i waho i ka pō wale nō e pale i ka ʻike ʻana i ka lā, kapa ʻia nā maʻi ʻōpio i kekahi manawa "nā keiki o ka mahina".

Nā kumu

ʻO nā kukuna UV (UVA a me UVB) he mau kukuna ʻike ʻole ʻia o ka lōʻihi hawewe pōkole a komo loa.

I loko o nā kānaka, ʻo ka hoʻolaha haʻahaʻa ʻana i nā kukuna UV i hoʻokuʻu ʻia e ka lā e ʻae i ka synthesis o ka vitamina D. Ma kekahi ʻaoʻao, ʻoi aku ka pōʻino o ka overexposures no ka mea ke kumu lākou i ke ahi pōkole o ka ʻili a me nā maka a, i ka wā lōʻihi, hoʻoulu i ka ʻili mua. ʻelemakule a me ka maʻi maʻi ʻili.

ʻO kēia pōʻino ma muli o ka hana ʻana o nā radical manuahi, nā molekole reactive e hoʻololi i ka DNA o nā cell. ʻO ka maʻamau, ʻo ka ʻōnaehana hoʻoponopono DNA o nā cell e hoʻoponopono i ka hapa nui o ka pōʻino DNA. Hoʻopaneʻe ko lākou hōʻiliʻili ʻana, ka hopena i ka hoʻololi ʻana o nā cell i mau cell cancerous.

Akā i ka Moon Children, ʻaʻole maikaʻi ka ʻōnaehana hoʻoponopono DNA no ka mea ua hoʻololi ʻia nā genes e hoʻomalu iā ia e nā hoʻololi hoʻoilina.

ʻOi aku ka pololei, ua hiki ke ʻike i nā mutations e pili ana i nā ʻano genes ʻokoʻa 8 i hiki ke hana i ʻehiku ʻano o ka mea i kapa ʻia ʻo "classic" XP (XPA, XPB, etc. XPG) e kū mai ana i nā ʻano like, a me kahi ʻano i kapa ʻia ʻo "XP variant" . , pili i kahi ʻano attenuated o ka maʻi me nā hōʻike hope.

No ka hōʻike ʻia ʻana o ka maʻi, pono ia e hoʻoili i kahi kope o ke ʻano mutated mai kona makuahine a me kekahi mai kona makuakāne (hoʻouna ʻia ma ke ʻano "autosomal recessive"). No laila, he mau mea lawe ola kino nā mākua, loaʻa i kēlā me kēia o lākou hoʻokahi kope o ka gene mutated.

PalekanaEND_LINK

Hiki ke ʻike ʻia ka maʻi i ka wā kamaliʻi, ma kahi o 1 a 2 mau makahiki, me ke ʻano o ka ʻili mua a me nā hōʻailona maka.

No ka hōʻoia ʻana i kēia, hana ʻia kahi biopsy, kahi e lawe ai i nā cell i kapa ʻia ʻo fibroblasts aia i loko o ka dermis. Hiki i nā hoʻokolohua kelepona ke helu i ka helu o ka hoʻoponopono DNA.

Pili ka poʻe

Ma ʻEulopa a me ʻAmelika Hui Pū ʻIa, 1 a 4 i 1 poʻe i loaʻa iā XP. Ma Iapana, nā ʻāina Maghreb a me ka Middle East, 000 i loko o 000 mau keiki i loaʻa i ka maʻi.

I ʻOkakopa 2017, ua ʻike ka hui "Les Enfants de la lune" i nā hihia 91 ma Farani.. 

ʻO ka maʻi ke kumu o ka ʻili a me ka maka e degenerate i ka wā mua, me ke alapine ma kahi o 4000 mau manawa kiʻekiʻe ma mua o ka lehulehu.

Liona ʻili

• ʻulaʻula (erythema): ʻO ka ʻike UV ka hopena i ka "sunburn" koʻikoʻi ma hope o ka liʻiliʻi ʻana mai nā mahina mua o ke ola. Ho'ōla maikaʻi ʻole kēia mau kuni a mau no kekahi mau pule.
• Hyperpigmentation: ʻIke ʻia nā "Freckles" ma ka maka a ua uhi ʻia nā ʻāpana o ke kino me nā kiko ʻeleʻele like ʻole.
• Nā maʻi maʻi ʻili: ʻO nā maʻi maʻi ma mua o ka maʻi maʻi (solar keratoses) me ke ʻano o nā wahi ʻulaʻula liʻiliʻi a me nā kikoʻī e ʻike mua ʻia. Hoʻomaka maʻamau ka maʻi maʻi maʻi ma mua o ka makahiki 10, a hiki ke ʻike ʻia ma mua o 2 mau makahiki. He maʻi maʻi maʻi a i ʻole melanomas, ʻoi aku ka koʻikoʻi ma muli o ko lākou makemake e laha (metastasize).

Poino maka

Ua pilikia kekahi mau pēpē i ka photophobia a ʻaʻole ʻae maikaʻi i ka mālamalama. Hoʻoulu ʻia nā ʻano like ʻole o ka cornea a me ka conjunctiva (conjunctivitis) mai ka makahiki 4 a hiki ke ʻike ʻia ka maʻi kanesa maka.

ʻO nā maʻi neurological

Hiki ke ʻike ʻia nā maʻi neurological a i ʻole ka ulu ʻana o ka psychomotor (nā kuli, nā pilikia hoʻonohonoho kaʻa, a me nā mea ʻē aʻe) i kekahi mau ʻano o ka maʻi (ma kahi o 20% o nā maʻi). ʻAʻole lākou i ka puka XPC, ka mea maʻamau ma Farani.

I ka loaʻa ʻole o ka lāʻau lapaʻau, hoʻokumu ʻia ka hoʻokele ma ka pale ʻana, ka ʻike ʻana a me ka mālama ʻana i nā ʻili a me nā maka. Pono ka nānā mau ʻana (he mau manawa o ka makahiki) e ka dermatologist a me ka ophthalmologist. Pono e nānā ʻia kekahi pilikia neurological a me ka lohe.

Kāohi ʻana i nā ʻike UV āpau

ʻO ka pono e pale i ka hoʻolaha ʻana o UV e hoʻohuli i ke ola o ka ʻohana i lalo. Hoʻemi ʻia nā huakaʻi a hoʻomaʻamaʻa nā hana i ka pō. Hoʻokipa ʻia nā keiki o ka mahina ma ke kula, akā paʻakikī ka hoʻonohonoho ʻana i ka hui.

ʻO nā hana palekana e noho paʻa loa a he kumu kūʻai:

• ka hoʻohana pinepine ʻana o ka sunscreen pale kiʻekiʻe loa,
• ke komo ʻana i nā mea pale: pāpale, mask a i ʻole nā ​​aniani UV, nā mīkina lima a me nā lole kūikawā,
• nā lako o nā wahi i hele pinepine ʻia (home, kula, kaʻa, etc.) me nā puka aniani anti-UV a me nā kukui (e makaʻala i nā kukui neon!). 

Ka lapaʻau ʻana i nā ʻili koko

ʻO ka wehe ʻana i nā maʻi koko ma lalo o ka anesthesia kūloko. I kekahi manawa, hana ʻia kahi ʻili ʻili i lawe ʻia mai ka mea maʻi ponoʻī no ka hoʻōla ʻana.

ʻO nā lāʻau lapaʻau maʻamau ʻē aʻe (chemotherapy a me radiotherapy) he mau mea ʻē aʻe ke paʻakikī ka hana ʻana o ka ʻōpū.

ʻO nā mea lapaʻau ʻē aʻe

• Hiki i nā retinoids waha ke kōkua i ka pale ʻana i ka ʻili koko, akā ʻaʻole ʻae pinepine ʻia.
• Hana ʻia nā ʻeha ma mua o ka maʻi maʻi ma o ka hoʻohana ʻana i ka cream i hoʻokumu ʻia ma ka 5-fluorouracil (kahi mole anticancer) a i ʻole cryotherapy (ke ahi anuanu).
• Pono ka hoʻohui ʻana i ka Vitamin D e hoʻopaʻi i nā hemahema i ʻike ʻia ma muli o ka ʻike ʻole ʻana i ka lā.

Mālama manaʻo noʻonoʻo

ʻAʻole maʻalahi ka manaʻo o ka hoʻokaʻawale ʻana i ka nohona, ka overprotection o nā mākua a me nā hopena maikaʻi o nā ʻili a me nā hana. Eia kekahi, ʻaʻole maopopo ka prognosis koʻikoʻi inā ʻoi aku ka maikaʻi mai ka hoʻokō ʻana o nā protocols hou no ka pale piha ʻana i ka UV. Hiki i ka mālama noʻonoʻo ke kōkua i ka mea maʻi a me kona ʻohana e hoʻokō i ka maʻi.

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ʻO ka loaʻa ʻana o nā genes pili i wehe i nā ala hou no ka mālama ʻana. ʻO ka lāʻau lapaʻau Gene a me nā lāʻau kūloko e hoʻoponopono i ka DNA hiki ke lilo i mea hoʻonā no ka wā e hiki mai ana.

I nā ʻohana kahi i hānau ʻia ai nā keiki mahina, ʻōlelo ʻia ka ʻōlelo aʻoaʻo genetic. E kūkākūkā ia i nā pilikia e pili ana i kahi hānau hou.

Hiki ke ʻike ʻia ka maʻi Antenatal inā ʻike ʻia nā hoʻololi i pili. Inā makemake ka male, hiki ke ho'opau 'ia ka hānau keiki.