He ʻili koʻikoʻi anei kou i ka lā? Hiki paha kēia (Xeroderma Pigmentosum - XP)!

I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana olakino i ʻike ʻole ʻia, akā he mea nui loa. Ua ʻike anei ʻoe pehea e ʻā ai kekahi poʻe a ʻulaʻula hoʻi ma hope o ka hoʻopili iki ʻana i ka lā? I kekahi manawa hiki kēia i nā keiki ʻōpio. ʻO kekahi kumu paha o kēia he kūlana i kapa ʻia ʻo Xeroderma Pigmentosum , a i ʻole XP no ka pōkole. I kēia lā e kamaʻilio wale mākou e pili ana i ke ʻano o ia mea, no ke aha e hana ai, a pehea e hiki ai iā mākou ke noho me ia.

He aha ke ʻano o kēia (XP)? E hoʻomaopopo pono kākou!

I ka ʻōlelo maʻalahi, he maʻi genetic kakaʻikahi ʻo Xeroderma Pigmentosum (XP) . Ke lohe ʻoe i ka huaʻōlelo "genetic," manaʻo paha ʻoe i kahi mea e like me kēia. ʻO ia hoʻi, he mea ia a mākou e hoʻoilina ai mai ko mākou mau mākua mai, a i ʻole nā ​​mea ʻelua. He ʻili koʻikoʻi loa ko ka poʻe me kēia maʻi i nā kukuna ultraviolet (UV) mai ka lā. I ka pololei, he paʻakikī i ko lākou ʻili ke omo i kēia mau kukuna (UV).

ʻO ka maʻamau, ʻike ʻia nā hōʻailona o kēia maʻi (XP) ma nā ʻāpana o ke kino i hōʻike pinepine ʻia i ka lā. No ka laʻana, ma ka maka, nā lima, a me nā lehelehe . I ka manawa pinepine, hoʻomaka kēia mau hōʻailona e ʻike ʻia i ka wā ʻōpiopio, ʻo ia hoʻi, i ka wā kamaliʻi . E noʻonoʻo, hiki i kahi keiki liʻiliʻi ke hōʻike ʻia i ka lā no kekahi mau minuke wale nō, a hiki i ko lākou ʻili ke pehu a puhi (blistering sunburns).

He maʻi ʻaʻai anei ʻo (XP)? He nīnau kēia a ka poʻe he nui!

ʻAʻole, ʻaʻole pololei ʻo XP he maʻi kanesa . Akā eia ke kumu nui. ʻOi aku ka nui o ka pilikia o ke kanaka me XP i ka loaʻa ʻana o ka maʻi kanesa ʻili ma mua o nā poʻe ʻē aʻe.

ʻOiai he moʻolelo weliweli kēia, he mea nui e makaʻala. E nānā i kēia mau helu helu:

• ʻO ke kanaka me XP he 10,000 mau manawa ka nui o ka loaʻa ʻana o ka maʻi ʻili nonmelanoma , e like me ka basal cell carcinoma a i ʻole ka squamous cell carcinoma, ma mua o ke kanaka maʻamau.
• Eia kekahi, ʻo ka pilikia o ka hoʻomohala ʻana i ka melanoma, kahi maʻi ʻili koʻikoʻi, ma kahi o 2,000 mau manawa kiʻekiʻe aʻe .

Ma waho aʻe o kēia mau maʻi ʻili, ua ʻike kekahi mau noiʻi he ʻoi aku ka nui o ka pilikia o ka poʻe me XP i ka hoʻomohala ʻana i nā ʻano maʻi ʻē aʻe. Eia kekahi laʻana:

• Nā puʻupuʻu lolo (Astrocytoma) , (Glioblastoma)
• Ka maʻi ʻaʻai umauma
• Ka maʻi ʻaʻai puʻupaʻa
• Leukemia
• Ka maʻi ʻaʻai māmā
• Ka maʻi ʻaʻai pancreatic
• Ka maʻi ʻōpū
• Ka maʻi ʻaʻai testicular
• Ka maʻi ʻaʻai thyroid
• Ka maʻi ʻōpū

Mai hopohopo i kēia papa inoa. ʻAʻole e ulu kēia mau maʻi kanesa a pau i kēlā me kēia maʻi (XP). Eia nō naʻe, he mea nui e makaʻala i nā pilikia.

Pehea ka maʻamau o kēia ʻano?

He maʻi laha ʻole ʻo Xeroderma Pigmentosum. Ua manaʻo ʻia hoʻokahi wale nō i loko o hoʻokahi miliona mau kānaka ma nā ʻāina e like me ʻAmelika Hui Pū ʻIa a me ʻEulopa i loaʻa i kēia maʻi (XP).

Eia nō naʻe, ʻoi aku ka maʻamau ma kekahi mau wahi o ka honua. No ka laʻana, ma Iapana, pili kēia maʻi i hoʻokahi i loko o 22,000 mau kānaka. He mea maʻamau nō hoʻi ia ma ʻApelika ʻĀkau a me ka Hikina Waena. ʻOiai ʻaʻohe ʻikepili pololei e pili ana i kona laha ʻana ma Sri Lanka, ua manaʻo ʻia he maʻi laha ʻole ia.

He aha nā hōʻailona o (XP)? E wehewehe kākou iā lākou!

(XP) Hiki ke ʻokoʻa nā hōʻailona mai kēlā kanaka a kēia kanaka, akā pili nui ia i ka ʻili, nā maka, a me ka ʻōnaehana nerve .

Nā hōʻailona ʻili

ʻO kēia nā hōʻailona i ʻike pinepine ʻia:

• Nā ʻōhū ʻana o ka lā: ʻOiai ma hope o kahi manawa pōkole o ka hōʻike ʻana i ka lā, e pehu a puhi ka ʻili.
• ʻIli maloʻo a lahilahi (Xerosis): Ua maloʻo loa ka ʻili, a hiki ke lilo i lahilahi e like me ka pepa pepa.
• Nā freckles (Lentigos) ma mua o 2 mau makahiki: ʻO ka maʻamau, ʻaʻole e loaʻa i nā keiki ʻōpio nā freckles i kēia wā mua.
• Nā ʻāpana o ka hoʻonui ʻia a me ka emi ʻana o ka pigment ʻili (Poikiloderma): Hiki ke ʻeleʻele kekahi mau wahi, aʻo kekahi ke keʻokeʻo.
• Ka lahilahi ʻana o ka ʻili (Atrophy).
• Nā laina ʻulaʻula ma ka ʻili i hoʻokumu ʻia e ka hoʻonui ʻia ʻana o nā kīʻaha koko - Telangiectasia: ʻIke ʻia lākou ma ke ʻano he mau laina ʻulaʻula no ka mea ua ʻike ʻia nā kīʻaha koko liʻiliʻi ma ka ʻili.

Eia kekahi, ʻoi aku ka nui o ka pilikia o ka poʻe me XP i ka hoʻomohala ʻana i nā ʻeha ʻili i kapa ʻia ʻo actinic keratoses, hiki ke lilo i maʻi kanesa .

Nā hōʻailona maka

I ka manawa pinepine, hiki i ka poʻe me XP ke loaʻa nā hōʻailona maka ma mua o 10 mau makahiki :

• Nā maka maloʻo.
• Ka palaho/ka mae ʻana o nā lihilihi maka.
• Ka mumū ʻana o kou cornea (Keratitis).
• ʻAʻohe moakaka o ka papa waho o kou maka - Cornea opacification: ʻO ke ʻano kēia, lilo ka ʻāpana aniani o ka maka i ao.
• ʻIke i ke kukui (Photophobia): Paʻakikī ke ʻae ʻana i kahi liʻiliʻi o ke kukui.
• Ka nalowale ʻana o nā maka maka.

I ka hala ʻana o ka manawa, hiki i kēia mau hōʻailona ke alakaʻi i ka nalowale o ka ʻike, a me ka makapō . Loaʻa i ka poʻe me XP ka pilikia no ka maʻi ʻaʻai maka .

Nā hōʻailona neurological

Hiki iā XP ke hoʻopilikia i kāu ʻōnaehana nerve. Ma kahi o ka hapahā o ka poʻe me XP e loaʻa nā hōʻailona e pili ana i ka ʻōnaehana nerve. ʻO nā hiʻohiʻona:

• Dysphagia - paʻakikī i ka ale ʻana.
• Ka nalowale ʻana o nā reflexes.
• Kaohi ʻole ʻana i nā ʻiʻo (Ataxia) a me ka ʻoʻoleʻa (Spasticity).
• Ka nalowale mau ʻana o nā mākau noʻonoʻo (cognitive).
• ʻO ka pohō lohe holomua i hoʻokumu ʻia e ka hōʻino ʻia ʻana o nā aʻalolo pepeiao o loko.
• Ka liʻiliʻi o ke poʻo (Microcephaly).
• Ka maʻi lolo o ke kaula leo.

Manaʻo nā loea ua hoʻokumu ʻia kēia mau hōʻailona e ka luku ʻia ʻana o nā hunaola nerve i loko o ka lolo.

He aha ke kumu o ka hoʻokumu ʻia ʻana o (XP)?

E like me kā mākou i ʻōlelo ai ma mua, he maʻi hoʻoilina ʻo Xeroderma Pigmentosum. ʻO ia hoʻi, ua hana ʻia e nā loli maʻamau ʻole (nā mutations) i loko o nā genes i loko o ko mākou kino. Hiki iā ʻoe ke hoʻoilina i kēia mau mutations genetic mai kou makuahine, kou makuakāne, a i ʻole nā ​​​​mea ʻelua. I ka ʻōlelo maʻalahi, ua hana ʻia e ka hemahema o nā genes e kōkua i ko mākou ʻili e hoʻoponopono i ka pōʻino i hana ʻia e nā kukuna UV.

Pehea e ʻike ai inā loaʻa iaʻu (XP)?

Manaʻo paha kāu kauka he XP kou ma muli o kāu mau hōʻailona. No ka hōʻoia ʻana i ke kānalua, e hana lākou i kahi hoʻāʻo koko . Nānā kēia hoʻāʻo koko no nā hoʻololi gene e hoʻoulu ai i ka Xeroderma Pigmentosum.

Aia kekahi lāʻau lapaʻau piha no (XP)?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau no Xeroderma Pigmentosum i kēia manawa . Eia nō naʻe, hiki i kāu kauka ke paipai i nā ʻano lāʻau like ʻole e kōkua i ka hōʻemi ʻana i nā hōʻailona a hoʻomaʻalahi i kou ola:

• Nā kulu maka: Hiki ke hāʻawi ʻia nā kulu maka lubrication e hōʻemi i ka mumū o ke keʻokeʻo o ka maka.
• Nā mea kōkua hoʻolohe: Inā nalowale ka lohe, hiki ke kuhikuhi ʻia nā mea kōkua hoʻolohe. I kekahi mau hihia koʻikoʻi , hiki ke ʻōlelo ʻia nā mea hoʻokomo cochlear .
• ʻOki kino: Inā loaʻa iā ʻoe ka maʻi ʻili, pono paha ʻoe i ke ʻoki kino e wehe ai. A i ʻole pono paha ʻoe i ke ʻoki kino e mālama i kekahi mau maʻi maka, e like me ke kuʻe ʻana o nā maka (ptosis) a i ʻole nā ​​pilikia me ke keʻokeʻo o ka maka. I kekahi mau hihia koʻikoʻi , pono paha kahi hoʻoili cornea .
• Nā mea hoʻohui Vitamin D:Loaʻa i ka hapa nui o ka poʻe ka wikamina D mai ka lā a me ka meaʻai. Pono ka poʻe me XP e pale loa i ka lā, no laila pono lākou e lawe i kahi mea hoʻohui wikamina D.

Hiki ke pale ʻia ʻo XP?

No ka mea, he maʻi hoʻoilina ʻo XP, ʻaʻohe ala e pale aku ai i kona ulu ʻana . Inā kānalua kāu kauka he loaʻa iā ʻoe ka hoʻololi ʻana o ka gene e hoʻoulu ai iā XP, hiki iā ʻoe ke hana i ka hoʻāʻo hoʻoilina .

Hiki i kahi hoʻāʻo genetic ke haʻi iā ʻoe inā loaʻa iā ʻoe ka mutation gene. E wehewehe kekahi kākāʻōlelo genetic i nā hopena iā ʻoe, nā pilikia e pili ana, a me nā manawa kūpono e loaʻa ai kahi keiki me XP.

He aha kāu e makaʻala ai i ka wā e noho pū ai me (XP)?

Inā loaʻa iā ʻoe ʻo Xeroderma Pigmentosum, aia kekahi mau mea āu e makaʻala ai e mālama i kou olakino holoʻokoʻa. Eia nā mea nui loa:

• Ka palekana o ka lā: ʻO kēia ka hana koʻikoʻi loa i ka mālama ʻana iā XP. He mea nui ia e pale i kou ʻili mai nā kukuna UV.
• E ʻaʻahu i nā lole pale lā . ʻO ia hoʻi, nā pālule lima lōʻihi, nā lole lōʻihi, nā kāmaʻa wāwae, a me nā pāpale.
• E komo i nā maka aniani pale UV .
• E hoʻohana i kahi pale lā ākea me ka SPF 35+ a ʻoi aku paha i kēlā me kēia lā. ʻOiai inā ʻaʻole ia e nānā aku i ka lā, hiki nō i nā kukuna UV ke komo ma waena o nā ao.
• Paipai nā loea i ka hoʻohana ʻana i kahi mika kukui UV e ʻike ai i kahi o kou wahi e hōʻike nui ʻia ai i nā kukuna UV a pale aku iā lākou. Hiki i kekahi mau kukui i loko o kou home ke hoʻopuka i nā kukuna UV, no laila e makaʻala pū i kēlā.

• Nā hoʻokolohua maka: E ʻike i kahi kauka maka e nānā mau i kou mau maka. E nānā ʻo ia no nā mea e like me nā lihilihi maka e hāʻule ana a me ka pehu ʻana o ka maka. E nānā i kou mau maka ma ka liʻiliʻi hoʻokahi manawa i ka makahiki, a i ʻole pinepine e like me ka ʻōlelo a kāu kauka.

• Nānā ʻili: E ʻike i kahi kauka ʻili i kēlā me kēia 6 a 12 mau mahina, a ʻoi aku paha e like me ka ʻōlelo a kāu kauka. E nānā lākou i nā hōʻailona o ke kanesa a i ʻole nā ​​​​mole e hiki ke lilo i kanesa. ʻOiai ʻoe ma ke keʻena o ke kauka, e nānā i kou ʻili ma ka liʻiliʻi hoʻokahi manawa i ka mahina . Inā ʻike ʻoe i kekahi mau kiko a i ʻole nā ​​​​puʻupuʻu hou, e ʻike koke i kahi kauka ʻili.

• Mālama neurological: Pono ka poʻe me (XP) e ʻike i kahi neurologist.Pono ʻoe e hālāwai pinepine me lākou e nānā i kā lākou mau reflexes, lohe, a me nā mea ʻē aʻe. Inā ʻike ke kauka i kekahi mau loli i kēia mau hana, e paipai ʻo ia i ka lāʻau lapaʻau e kāohi a hoʻolohi paha i ka ʻino o ke kūlana.

E hoʻomanaʻo, ʻo kēia mau mea a pau no ka pale ʻana iā ʻoe iho. Inā ʻoe e hahai pono i kēia mau mea, hiki iā ʻoe ke ola i kahi ola holomua me (XP).

He aha kāu e ʻōlelo ai e pili ana i ke ola o kekahi me (XP)?

Hiki ke ʻokoʻa ke ola o kekahi kanaka me Xeroderma Pigmentosum mai kēlā me kēia kanaka. I nā hihia he nui, hiki ke ʻike ʻia ka maʻi ʻili i ka wā ʻōpiopio loa, hiki ke hoʻopōkole i ke ola. Eia nō naʻe, ʻo ka hana ʻana i nā hana e pale aku ai i ka hōʻino ʻia o ka ʻili mai ka lā mai ka wā ʻōpiopio e hoʻonui i kou manawa e ola ai i kahi ola lōʻihi . No laila, he mea nui loa ka hahai ʻana i nā hana palekana i ʻōlelo ʻia ma luna.

Nā nīnau e nīnau aku ai i kāu kauka

Inā loaʻa iā ʻoe a i ʻole kāu keiki ʻo Xeroderma Pigmentosum, a inā manaʻo ʻoe he loaʻa iā ʻoe, hiki iā ʻoe ke nīnau i kāu kauka i kēia mau nīnau:

• He aha kaʻu e hana ai e hōʻemi i koʻu pilikia o ka maʻi ʻaʻai ʻili?
• He aha ke ʻano o nā hoʻāʻo ʻana no ka maʻi kanesa e pono e hana ʻia?
• He aha nā hōʻailona mua o ka maʻi ʻili?
• Pehea e pili ai kēia hōʻailona i ke koena o koʻu ʻohana?
• Pono anei au e noʻonoʻo i ka hoʻāʻo genetic?
• He aha nā manawa kūpono e loaʻa iaʻu kahi keiki ʻē aʻe me (Xeroderma Pigmentosum)?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai

ʻAe, no laila, ʻo ka maʻi a mākou i kamaʻilio ai (Xeroderma Pigmentosum - XP) he maʻi genetic kakaikahi. ʻO ka hiʻohiʻona nui o kēia he ʻike nui loa i nā kukuna (UV). Nui ka poʻe e ʻike i nā pilikia ulu ʻana o ka maka a me ka ʻōnaehana nerve. Inā loaʻa iā ʻoe (XP), pono ʻoe e pale i ka nui o ka lā, ʻo ia hoʻi, nā kukuna (UV), i ka hiki . ʻO ka pale ʻana i kou ʻili mai ka lā a me ka loaʻa ʻana o nā nānā ʻana i ka maʻi ʻili maʻamau kou manawa kūpono loa e noho olakino ai.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. Inā he mau nīnau kāu, mai kānalua e nīnau i kāu kauka. E kōkua lākou iā ʻoe.

ʻO Xeroderma Pigmentosum, XP, nā maʻi ʻili, nā maʻi hoʻoilina, ka ʻike ʻana i ka lā, ka maʻi ʻili, nā kukuna UV