Loaʻa i kāu pēpē ka PKU? (Phenylketonuria) - E kamaʻilio kākou e pili ana i kēia me nā kikoʻī!

He makuahine anei ʻoe no kahi pēpē hānau hou? A i ʻole ua lohe paha ʻoe ua loaʻa i kekahi o kou ʻohana a i ʻole ke keiki a kahi hoaaloha kēia maʻi? Inā pēlā, he mea nui loa kēia ʻatikala iā ʻoe. I kēia lā e kamaʻilio mākou e pili ana iā Phenylketonuria , a i ʻole PKU no ka pōkole, kahi maʻi i lohe ʻia e ka poʻe he nui a ʻaʻole i maʻa, akā he mea kūpono loa ia e ʻike. Mai hopohopo, e kamaʻilio maʻalahi mākou e pili ana i kēia, ma ke ʻano hiki iā ʻoe ke hoʻomaopopo.

He aha ka PKU (Phenylketonuria)? E hoʻomaopopo maʻalahi kākou!

I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ka PKU. ʻO ia hoʻi, ua hana ʻia e kahi loli liʻiliʻi i loko o kā mākou mau genes. ʻO kēia ke kumu o ko mākou kino e lawelawe pono ʻole ai i kahi mea i kapa ʻia ʻo phenylalanine .

I kēia manawa ke noʻonoʻo nei paha ʻoe i ke ʻano o ka phenylalanine. He waikawa amino ia. Ua like nā waikawa amino me nā poloka hale liʻiliʻi e kōkua i ka hana ʻana i nā protein. Loaʻa ka Phenylalanine i nā meaʻai a mākou e ʻai ai, ʻoiai nā mea kiʻekiʻe i ka protein. Loaʻa pū kekahi i kekahi mau mea ʻono hana, e like me ka aspartame .

ʻO ka maʻamau, i loko o ke kanaka olakino, ua wāwahi ʻia kēia phenylalanine i ka nui e pono ai a hana ʻia i ke ʻano e hiki ai i ke kino ke omo. Eia naʻe, i loko o ke kanaka me PKU, ʻaʻole hana pono kēia kaʻina hana. A laila, hoʻomaka kēia phenylalanine e hōʻiliʻili i loko o ke kino. Ua like ia me kahi paipu i paʻa i loko o kahi pahu wai e hoʻopiha ʻia me ka wai. ʻO kēia hōʻiliʻili ke kumu o nā pilikia. Ma ke ʻano kūikawā, hiki iā ia ke hoʻopilikia i ka ulu ʻana o ka lolo . Inā ʻaʻole mālama ʻia, hiki ke loaʻa nā kūlana e like me ke 'kīnā noʻonoʻo'.

Aia kekahi mau ʻano like ʻole o ka PKU?

ʻAe, aia kekahi mau ʻano o ka PKU, ma muli o ke koʻikoʻi. ʻOkoʻa nō hoʻi nā hōʻailona ma muli o ke ʻano, ʻoiai hoʻi i ka poʻe i loaʻa ʻole ka lāʻau lapaʻau.

Hiki ke ʻike ʻia ʻekolu mau ʻano nui:

• PKU Kuʻuna: ʻO kēia ke ʻano koʻikoʻi loa .
• PKU kaulike a ʻoluʻolu paha: ʻAʻole ʻoi aku ka koʻikoʻi o kēia.
• ʻO ka hyperphenylalaniemia iki: ʻO kēia ke ʻano ʻoi loa o ke kūlana. ʻOiai me ka ʻole o ka lāʻau lapaʻau, he haʻahaʻa loa ka pilikia o kēia poʻe i ka loaʻa ʻana o ke kīnā noʻonoʻo.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia maʻi PKU?

No ka mea he genetic ka PKU, hiki i kekahi me nā mutations ma nā kope ʻelua o ka gene PAH ke loaʻa i ke kūlana. Manaʻo kekahi mau noiʻi he ʻoi aku ka nui o ka pilikia o ka poʻe o ka ʻōiwi ʻAmelika a ʻEulopa paha.

ʻO kekahi mea nui, ʻo ka makuahine hāpai me ka PKU i kāohi ʻole ʻia, ʻo ia hoʻi ke kiʻekiʻe loa o ka phenylalanine i loko o kona koko, hiki ke hānau i kahi pēpē me ka ʻole o ka PKU.Hiki iā ia ke hoʻopilikia i ka ulu ʻana o ka noʻonoʻo o ka pēpē, hoʻoulu i nā kīnā hānau, a hoʻoulu i nā pilikia ʻē aʻe. No laila, he mea nui loa ka kaohi ʻana i ka PKU i ka wā hāpai.

Pehea ka maʻamau o ka PKU?

Wahi a nā helu helu mai nā ʻāina e like me ʻAmelika Hui Pū ʻIa, hoʻopilikia ka PKU ma kahi o hoʻokahi i loko o 10,000 a 15,000 mau pēpē hānau hou. ʻOiai he paʻakikī ke loaʻa nā helu helu pololei ma kēia ma Sri Lanka, hiki ke ʻike ʻia kēia kūlana ma nā wahi āpau o ka honua.

He aha nā hōʻailona o ka PKU? Mai hopohopo, e ʻike i kēia!

Ma nā ʻāina he nui, me kekahi mau haukapila ma Sri Lanka, ua hana mua ʻia ka nānā ʻana i nā keiki hānau hou ma nā keiki hānau hou e hoʻoholo ai inā he PKU ko lākou, e hiki ai ke ʻike i ke kūlana ma mua o ka puka ʻana o nā hōʻailona. No laila, ua haʻahaʻa loa ka nui o nā hōʻailona i kēia manawa.

Eia nō naʻe, inā ʻaʻole ʻike ʻia kēia ʻano ma kekahi ʻano a inā ʻaʻole i mālama ʻia, e ʻike ʻia paha kekahi mau hōʻailona. Eia nā mea:

• Nā maʻi ʻili e like me ka eczema .
• Nā loli i ke kala o ka ʻili a me/a i ʻole ka lauoho ( e māmā ana ka ʻili a me ka lauoho ma mua o nā lālā ʻē aʻe o ka ʻohana).
• ʻOi aku ka liʻiliʻi o ke poʻo ma mua o ka maʻamau (microcephaly) .
• He ʻala pilau mai ka hanu, ka ʻili, a i ʻole ka mimi. He ʻala ia e like me kahi mea kahiko.

ʻO nā hōʻailona koʻikoʻi loa e hiki ke kū mai inā ʻaʻole mālama ʻia:

• Nā pilikia pili i ka hana.
• Nā lohi o ka ulu ʻana - ʻO ke ʻano kēia, ua lohi nā pae holomua o ka ulu ʻana o kahi pēpē, e like me ka minoʻaka, ke hāpai ʻana i ko lākou poʻo, a me ka hele wāwae.
• Nā kīnā noʻonoʻo .
• I ka manawa pinepine ʻole, hiki ke loaʻa nā maʻi e like me ka epilepsy .

Mea nui: E hoʻomanaʻo, ʻike wale ʻia ka nui o kēia mau hōʻailona inā ʻaʻole mālama ʻia. I kēia mau lā, hiki i ka nānā ʻana i nā keiki hānau hou ke ʻike mua i kēia, no laila ʻaʻohe mea e hopohopo ai.

He aha ke kumu maoli o ka PKU?

ʻO ke kumu nui o ka PKU he mutation i nā kope ʻelua o ka gene PAH i loko o ko mākou kino. Ke kuhikuhi nei kēia gene PAH i ko mākou kino e hana i kahi enzyme i kapa ʻia ʻo phenylalanine hydroxylase . Hoʻololi kēia enzyme i ka amino acid phenylalanine, a mākou e ʻai ai, i mau protein e hiki i ke kino ke hoʻohana.

No laila, ke hana pono ʻole kēia gene PAH, ʻaʻole i hana ʻia ka enzyme, a i ʻole ʻaʻole ia e hana pono. A laila, hōʻiliʻili ka phenylalanine mai ka meaʻai i loko o ke kino. He mea maʻalahi loa ko mākou kino, ʻoiai ka lolo, i ka phenylalanine keu. ʻO ia ke kumu e hiki ai ke hōʻino ʻia ka lolo.

Pehea e laha ai ka PKU ma o nā genes?

He aha ka PKU?He ʻano maʻi hoʻoilina i hoʻoilina ʻia mai nā mākua a i nā keiki ma ke ʻano autosomal recessive. He ʻano ʻepekema paha kēia, akā ma nā huaʻōlelo maʻalahi penei:

E noʻonoʻo, ʻo ka gene e hoʻokumu ai i ka PKU ua kapa ʻia ʻo "p". ʻO ka gene olakino ua kapa ʻia ʻo "P".

No ka hoʻomohala ʻana i ka PKU, pono i ke keiki ke loaʻa kahi gene "p" mai ka makuahine a me ka makuakāne (ʻo ia hoʻi, pono ia he "pp").

I nā hihia he nui, hiki i nā mākua ke lilo i mea lawe i kēia gene PKU. ʻO ia hoʻi, hiki iā lākou ke loaʻa ka gene ma ke ʻano he "Pp". ʻAʻohe o lākou mau hōʻailona o ka PKU, no ka mea, ke hana nei ka gene "P" olakino. Akā, hiki iā lākou ke hoʻoili i kēlā gene "p" i kā lākou mau keiki.

No laila, inā he mau mea lawe (Pp x Pp) nā mākua ʻelua, i ka wā e loaʻa ai iā lāua kahi keiki:

• Aia he 25% ka manawa e loaʻa ai i kahi keiki ka PKU (pp).
• Aia he 50% ka manawa e lilo ai ke keiki i mea lawe (Pp) - ʻaʻohe hōʻailona.
• Aia he 25% ka manawa e loaʻa ai i ke keiki nā ʻano genes olakino (PP) - ʻaʻohe PKU, a ʻaʻole ia he mea lawe.

ʻO ia ke kumu he mea ia e pono ai ke loaʻa mai nā mākua ʻelua.

Pehea ʻoe e ʻike ai inā loaʻa iā ʻoe ka PKU?

ʻO ka hapa pinepine, ʻike ʻia ka PKU ma o kahi hoʻāʻo nānā ʻana i ka pēpē hānau hou, i hana ʻia ma waena o 24 a me 72 mau hola ma hope o ka hānau ʻana o kahi pēpē . Pili kēia i ke hou ʻana i ka kuʻekuʻe wāwae o ka pēpē me kahi nila liʻiliʻi a lawe i kekahi mau kulu koko . Nānā kēia i ka pae o ka phenylalanine i loko o ke koko o ka pēpē.

• Inā ʻike ʻia he kiʻekiʻe nā pae phenylalanine i ke koko o ka pēpē, e hana nā kauka i nā hoʻokolohua hou aʻe (nā hoʻokolohua koko a mimi paha) e hōʻoia i ke kūlana PKU, a me ka ʻike ʻana i ke ʻano o ka PKU.
• Ma muli o ka PKU he ʻano genetic, hiki ke hana ʻia kahi hoʻāʻo genetic e hoʻoholo ai i ka hoʻololi pololei o ka gene e kuleana no nā hōʻailona.

Inā ʻaʻole i hana ʻia nā hoʻokolohua nānā ʻana i nā keiki hānau hou, hiki ke ʻike ʻia ka PKU i kēlā me kēia makahiki, akā ʻo ka mua o ka ʻike ʻia ʻana, ʻoi aku ka maikaʻi.

He aha nā lāʻau lapaʻau e loaʻa ana no ka PKU?

He hana ola ke ola no ka mālama ʻana i ka PKU. Akā, mai hopohopo, inā mālama pono ʻia, hiki iā ʻoe ke ola i kahi ola olakino. Hiki i ka mālama ʻana ke komo pū me:

1. ʻAi kūikawā: ʻO kēia ka mea nui loa. Pono ʻoe e ʻai i kahi ʻai haʻahaʻa i ka phenylalanine akā waiwai i nā meaola ʻē aʻe .

2. Nā wikamina, nā minelala, a me nā mea hoʻopihapiha meaʻai: He mea pono kēia mau mea no ka loaʻa ʻana o nā meaolaola āu e pono ai, no ka mea, hiki i ka ʻai ʻana ke alakaʻi i ka nele ʻana i kekahi mau meaolaola.

3. Lāʻau lapaʻau: Hiki ke hāʻawi ʻia i kekahi poʻe kahi lāʻau lapaʻau e like me sapropterin dihydrochloride (Kuvan®) . Kōkua kēia i ke kino e wāwahi i ka phenylalanine.

4. ʻO ka lāʻau lapaʻau Pegvaliase (Palynziq®):Hiki i ka poʻe e lawe ana i kēia lāʻau lapaʻau ke ʻai maʻamau me ka ʻole o nā kapu ʻai kūikawā. Hoʻololi kēia i ka enzyme e wāwahi ana i ka phenylalanine i hana pono ʻole i loko o ke kino o ka poʻe me PKU.

Inā loaʻa iā ʻoe a i ʻole kāu keiki ka PKU, pono ʻoe e hana pū me kāu kauka a me kahi meaʻai meaʻai e hoʻomohala i ka hoʻolālā lapaʻau maikaʻi loa.

He aha nā meaʻai i loaʻa ka phenylalanine? E makaʻala kākou i kēia mau mea!

Pono ka poʻe me PKU (ke ʻole lākou e lawe i kahi lāʻau lapaʻau i kapa ʻia ʻo 'Pegvaliase') e kaupalena i nā meaʻai kiʻekiʻe i ka phenylalanine. Loaʻa kēia mau mea i nā meaʻai waiwai i ka protein. Eia kekahi laʻana:

• Waiū a me nā huahana waiū (kīhi, yogurt)
• Nā hua manu
• Nā nati (e like me ka pīnati, cashews)
• Iʻa
• Moa
• Pipi
• Nā legumes e like me nā pīni a me nā lentils
• ʻO Aspartame, kahi mea ʻono hana (hiki ke loaʻa i kekahi mau mea inu a me nā meaʻai me ke kō ʻole)

Aia kekahi papaʻai kūikawā no kekahi me PKU?

ʻAe, ʻoiaʻiʻo nō. Pono ke kanaka me PKU (ʻaʻole e lawe ana i ka lāʻau `Pegvaliase`) e hahai i ka papaʻai haʻahaʻa-protein . Pono e hoʻemi ʻia nā meaʻai kiʻekiʻe-protein e like me ka ʻiʻo, ka iʻa, nā hua manu, a me nā huahana waiū i ka hiki, a i ʻole e hoʻōki loa.

Akā, ʻaʻole kēia i maʻalahi e like me ka mea i ʻike ʻia. No ka mea, he mea nui ka protein no ke kino. No laila, he mea nui loa ke kamaʻilio me ke kauka a meaʻai meaʻai paha a hana i kahi papaʻai kaulike e hāʻawi ana i nā meaolaola ʻē aʻe a pau e pono ai ke kino. Aia nā ʻano waiū kūikawā no nā pēpē me PKU, he haʻahaʻa i ka phenylalanine, akā aia nō nā meaolaola ʻē aʻe e pono ai.

E noʻonoʻo, he pēpē liʻiliʻi kāu ma ka home me PKU. Pehea kou akahele e pili ana i ka meaʻai āu e hānai ai iā ia? Pono ʻoe e nānā i kēlā me kēia pūʻolo meaʻai a ʻike i ka nui o ka phenylalanine i loko. He mōhai nui ia, akā kūpono ia no ka wā e hiki mai ana o ke keiki.

Hiki ke pale ʻia ka PKU?

Ma muli o ka PKU he genetic, ʻaʻohe ala e pale ai i kēia kūlana.

Eia nō naʻe, inā ʻoe e hoʻolālā ana e hāpai, hiki iā ʻoe ke hele i ke aʻoaʻo genetic a me ka nānā ʻana i ka mea lawe e ʻike ai inā loaʻa iā ʻoe a me kāu hoa ka gene PKU. E kōkua kēia iā ʻoe e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me PKU.

He aha ke ʻano o ka wā e hiki mai ana e hiki i kekahi me PKU ke manaʻo?

He pilikia kēia i loaʻa i nā poʻe he nui. ʻOiai he maʻi ola ka PKU, inā mālama pono ʻia, hiki i ka hapa nui o nā kānaka ke ola olakino a maʻamau.

• Ma hope o ka hōʻoia ʻana, pono nā hoʻāʻo koko maʻamau e nānā i ka pae phenylalanine i loko o ke koko . Penei e hiki ai iā ʻoe ke hoʻoholo inā e hahai pono ʻia ana ka ʻai a inā e hana pono ana ka lāʻau lapaʻau.
• No ka poʻe e ʻai ana i ka meaʻai, he kauka meaʻaiHe mea kōkua nui ka hana pū ʻana me lākou. Hōʻike pololei lākou iā ʻoe i nā meaʻai e ʻai ai, nā mea e pale aku ai, a pehea e loaʻa ai ka meaʻai e pono ai kou kino.
• Inā hāpai kahi wahine me PKU, e hana pū kāna kauka a me ka meaʻai meaʻai e hana i kahi hoʻolālā papaʻai kūikawā e hōʻoia i ka loaʻa ʻana o ka makuahine i ka meaʻai e pono ai ʻo ia me ka hoʻemi ʻana i nā pōʻino hiki i ka pēpē.

Pehea e hiki ai iaʻu ke pale iaʻu iho/i kaʻu keiki mai ka PKU?

He mea ola ka maʻi PKU, no laila he mea nui e noho mau me kāu kauka a nānā i kou mau pae phenylalanine koko.

• Inā ʻoe e ʻai ana i ka papaʻai, e lawe i nā huaora a me nā mea hoʻopihapiha e pono ai e hoʻopiha i ka nele o ka protein.
• E hahai i kēia papaʻai no ke koena o kou ola. A i ʻole, hiki ke hoʻi hou mai nā hōʻailona a lilo i mea weliweli i kou olakino.
• Inā ʻoe e noʻonoʻo ana e hoʻomaka i kahi ʻohana, e kamaʻilio me kāu kauka e pili ana i ka hoʻāʻo genetic , hiki ke kōkua iā ʻoe e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me PKU.

Āhea ʻoe e ʻike ai i ke kauka?

• Inā loaʻa iā ʻoe a i ʻole kāu keiki nā hōʻailona e pili ana i ka PKU (nā mea a mākou i kūkākūkā ai ma mua), e ʻike koke i ke kauka no ka hoʻokolokolo piha ʻana.
• Ma mua o kou hāpai ʻana, a i ʻole i ka hoʻomaka ʻana o kou hāpai ʻana, hiki iā ʻoe ke nīnau i kāu kauka e pili ana i ka nānā ʻana o ka mea lawe , hiki ke kōkua iā ʻoe a me kāu hoa e ʻike inā he pilikia ʻoe i ka loaʻa ʻana o kahi keiki me PKU.
• Inā loaʻa iā ʻoe ka PKU, e ʻike pinepine i kāu kauka no nā hoʻāʻo koko a me ka nānā ʻana.

He aha nā nīnau e pono iaʻu e nīnau aku i kaʻu kauka?

Inā he mau nīnau kāu e pili ana i ka PKU a i ʻole ke kūlana PKU o kāu keiki, mai makaʻu e nīnau. Eia kekahi mau laʻana:

• " Pehea e hiki ai iaʻu ke hōʻoia i ka loaʻa ʻana o kaʻu pēpē i ka meaʻai kūpono e noho olakino ai?"
• "Pono anei au/kaʻu keiki e lawe i kekahi mau wikamina a i ʻole nā ​​mea hoʻopihapiha meaʻai hou aku?"
• "Ua lawa anei ka ʻai haʻahaʻa protein e hōʻemi i nā pae phenylalanine o kaʻu/kaʻu keiki, a i ʻole pono anei iaʻu e lawe i ka lāʻau lapaʻau?"
• "He aha nā mea e pono iaʻu e makaʻala i ka wā e hoʻomākaukau ai i kēia pāʻina kūikawā?"
• "Inā e hele ana kekahi keiki i ke kula, pehea lā e hoʻomaopopo ʻia ai ke kula e pili ana i kā lākou meaʻai a me ka mea inu?"

I ka wā mua, hiki ke paʻakikī iki ke koho ʻana i nā meaʻai i nele i ka phenylalanine, akā i kou hana pū ʻana me kāu kauka a me ka mea lapaʻau meaʻai, e maʻa ʻoe iā ia.

ʻO ka mea hope loa, kekahi mau mea nui e hoʻomanaʻo ai (Leka Lawe-Home)

ʻOiai he maʻi ola ka PKU, hiki ke mālama pono ʻia. ʻO ke kī, ʻo ia ka ʻike mua ʻana a me ka mālama pono ʻana.

• He mea nui loa ka nānā ʻana i nā keiki hānau hou . Hiki iā ia ke ʻike mua i nā maʻi ʻē aʻe e like me ka PKU.
• Ke ʻike koke ʻoe he PKU kou, e ʻimi pono i ke kōkua lapaʻau a me ke alakaʻi a kekahi meaʻai meaʻai .
• ʻO ka mālama pono ʻana i ka ʻai a, inā pono, ka lāʻau lapaʻau i ke ola holoʻokoʻa he mea nui ia no ka ulu olakino o ka lolo o kāu a i ʻole ka lolo o kāu keiki.
• E nānā i kāu mau pae phenylalanine me nā hoʻāʻo koko maʻamau .
• ʻAʻole ʻoe hoʻokahi. ʻO ka hoʻopili ʻana me nā poʻe ʻē aʻe me PKU a me ko lākou mau ʻohana hiki ke lilo i kumu ikaika a me ka hoʻoikaika no ʻoe i nā hui kākoʻo .
• Inā he makua ʻoe no kahi keiki me PKU, e aʻo i kāu keiki e noho me kēia maʻi me ke ahonui a me ke aloha .

Manaʻolana wau ua kōkua kēia ʻike iā ʻoe e hoʻomaopopo maikaʻi i ka PKU (Phenylketonuria). E hoʻomanaʻo, ʻo ka ʻike ka mea kaua maikaʻi loa e kūʻē i kekahi pilikia olakino!

PKU , Phenylketonuria, phenylalanine, nā maʻi genetic, nā pēpē hānau hou, ʻai, ʻai haʻahaʻa protein, nānā ʻana i nā pēpē hānau hou