Phenylketonuria (PKU)

Anter

• Nā ʻōuli o phenylketonuria
• Nā kumu o phenylketonuria
• Pehea e hōʻoia ʻia ai
• Nā koho lapaʻau
• Meaʻai
• Laau Lapaʻau
• ʻO ka hāpai a me ka phenylketonuria
• ʻO ka nānā lōʻihi lōʻihi no ka poʻe me phenylketonuria
• Hiki ke pale ʻia ka phenylketonuria?

He aha ka phenylketonuria?

ʻO Phenylketonuria (PKU) kahi ʻano kūlohelohe maʻamau e kumu ai i kahi amino acid i kapa ʻia ʻo phenylalanine e kūkulu i loko o ke kino. ʻO nā amino acid nā mea kūkulu i ka protein. Loaʻa ʻo Phenylalanine i loko o nā protein āpau a me kekahi mau mea hoʻonanea ʻono.

ʻO ka Phenylalanine hydroxylase kahi enzyme a kou kino e hoʻohana ai e hoʻolilo i ka phenylalanine i tyrosine, kahi e pono ai i kou kino e hana i nā neurotransmitters e like me epinephrine, norepinephrine, a me dopamine. Hoʻokumu ʻia ʻo PKU e kahi kīnā ma ka ʻaoʻao e kōkua i ka hana ʻana i ka phenylalanine hydroxylase. Ke nalowale kēia enzyme, ʻaʻole hiki i kou kino ke wāwahi i ka phenylalanine. ʻO kēia ke kumu o ka buildup o phenylalanine i kou kino.

Nānā ʻia nā pēpē maʻAmelika Hui Pū ʻIa no PKU ma hope koke iho o ka hānau ʻana. ʻAʻole maʻamau kēia ʻano ma kēia ʻāina, kahi wale nō e pili ana i 1 ma 10,000 a 15,000 mau hānau hānau i kēlā me kēia makahiki. ʻAʻohe laha nā ʻōuli koʻikoʻi a me nā ʻōuli o PKU i ʻAmelika Hui Pū ʻIa, no ka mea, hiki i ka loiloi mua ʻana ke ʻae i ka mālama ʻana ma hope koke o ka hānau ʻana. Hiki i ke kuhi mua a me ka lāʻau lapaʻau ke kōkua i ke kōkua ʻana i nā ʻōuli o PKU a pale i ka hōʻino ʻana o ka lolo.

Nā ʻōuli o phenylketonuria

Hiki ke kau ʻia nā ʻōuli PKU mai ke akahai a i ke koʻikoʻi. ʻO ke ʻano koʻikoʻi loa o kēia maʻi i ʻike ʻia ma ke ʻano he PKU kahiko. Hiki ke ʻike ʻia kahi pēpē me PKU maʻamau no nā mahina mua o ko lākou ola. Inā mālama ʻole ʻia ka pēpē no PKU i kēia manawa, hoʻomaka lākou e hoʻomohala i nā ʻōuli penei:

• ka hopu ʻana
• haʻalulu, a haʻalulu paha
• ulu ʻaʻano
• hyperactivity
• nā kūlana ʻili e like me ka eczema
• kahi ʻala musty o ko lākou hanu, ʻili, a mimi paha

Inā kuhi ʻole ʻia ʻo PKU i ka wā hānau a ʻaʻole i hoʻomaka koke ka mālama ʻana, hiki i ka maʻi ke kumu:

• hiki ʻole i ka lolo ke hoʻihoʻi ʻia a me nā pono kīnā ʻole i loko o nā mahina mua o ke ola
• nā pilikia a me ka hopu ʻana i nā keiki makua

Kāhea ʻia kahi ʻano PKU liʻiliʻi loa o PKU a i ʻole non-PKU hyperphenylalaninemia. Kū kēia ke loaʻa ka phenylalanine nui i ka pēpē i ko lākou kino. Loaʻa paha i nā pēpē me kēia ʻano o ka maʻi ke loaʻa nā ʻōuli mālie wale nō, akā pono lākou e ukali i ka papaʻai kūikawā e pale ai i nā kīnā ʻole o ka ʻike.

I ka manawa e hoʻomaka ai kahi papa ʻaina kikoʻī a me nā mea pono e pono ai, hoʻomaka nā ʻōuli e hōʻemi. ʻO ka poʻe me PKU nāna e hoʻokele pono i kā lākou papaʻai maʻamau ʻaʻole hōʻike i kekahi mau ʻōuli.

Nā kumu o phenylketonuria

ʻO PKU kahi kūlana hoʻoilina i hoʻokumu ʻia e kahi kīnā ma ka ʻaoʻao PAH. Kōkua ka ʻohana PAH i ka hana ʻana i ka phenylalanine hydroxylase, ka ʻenemema i kuleana no ka haki ʻana i ka phenylalanine. Hiki ke hana i kahi kūkulu weliweli o ka phenylalanine ke ʻai kekahi i nā meaʻai protein kiʻekiʻe, e like me nā hua manu a me kaʻiʻo.

Pono nā mākua ʻelua e hoʻohele i kahi mana hemahema o ka ʻaoʻao PAH no kā lākou keiki e hoʻoilina i ka maʻi. Inā hala wale kekahi makua i kahi ʻāpana i hoʻololi ʻia, ʻaʻole e loaʻa i kahi keiki nā ʻōuli, akā e lawe lākou i ka ʻāpana.

Pehea e hōʻoia ʻia ai

Mai ka makahiki 1960, ua nānā pinepine nā haukapila maʻAmelika Hui Pū ʻIa i nā keiki hānau hou no PKU ma o ka lawe ʻana i kahi hōʻailona koko. Hoʻohana kahi kauka i kahi nila a i ʻole lancet e lawe i kekahi mau kulu koko mai kou kuʻekuʻe wāwae o kāu pēpē e hoʻāʻo no PKU a me nā ʻano maʻi ʻē aʻe.

Hana ʻia ka hoʻokolohua kānana ke hele ka pēpē i hoʻokahi a ʻelua mau lā a aia nō i ka haukapila. Inā ʻaʻole ʻoe e hāʻawi i kāu pēpē i kahi haukapila, pono ʻoe e hoʻonohonoho i ka hoʻokolohua loiloi me kāu kauka.

Hana ʻia paha nā hōʻike hou e hōʻoia i nā hopena mua. Huli kēia mau hoʻāʻo i ke kū ʻana o ka mutation gen PAH e kumu ai PKU. Hana pinepine ʻia kēia mau hoʻāʻo ma loko o ʻeono pule ma hope o ka hānau ʻana.

Inā hōʻike ke keiki a makua paha i nā ʻōuli o PKU, e like me ka hoʻopaneʻe ulu ʻana, e kauoha ke kauka i kahi hoʻokolohua koko e hōʻoia i ka hōʻailona. Pili kēia hōʻike i ka lawe ʻana i kahi hāpana o ke koko a kālailai ʻia ia no ke alo o ka enzyme e pono ai e wāwahi i ka phenylalanine.

Nā koho lapaʻau

Hiki i nā poʻe me PKU ke hoʻokuʻu i kā lākou mau ʻōuli a pale i nā pilikia ma o ka hāhai ʻana i kahi papaʻai kūikawā a me ka lawe ʻana i nā lāʻau.

Meaʻai

ʻO ke ala nui e mālama ai iā PKU ka ʻai ʻana i kahi papaʻai kūikawā e kaupalena ana i nā meaʻai i loaʻa ka phenylalanine. Hānai ʻia nā pēpē me PKU i ka waiū umauma. Pono lākou e hoʻopau i kahi hana kūikawā i kapa ʻia ʻo Lofenalac. Ke lawa ka nui o kāu pēpē e ʻai i nā meaʻai paʻa, pono ʻoe e hōʻalo i ka waiho ʻana iā lākou e ʻai i nā meaʻai i loko o ka protein. Loaʻa kēia mau meaʻai:

• huamoa
• tī
• hua kukui
• waiū
• pīni
• moa
• pipi
• puaʻa
• iʻa

E hōʻoia i ka loaʻa ʻana o ka protein i kūpono, pono nā keiki me PKU e hoʻopau i ka hana PKU. Loaʻa iā ia nā amino acid āpau e pono ai i ke kino, koe wale no phenylalanine. Aia kekahi mau protein protein haʻahaʻa, PKU aloha e hiki ke loaʻa ma nā hale kūʻai olakino kūikawā.

Pono nā poʻe me PKU e hāhai i kēia mau papaʻai papaʻai a hoʻopau i ka hana PKU i loko o ko lākou ola e hoʻokele i kā lākou mau ʻōuli.

He mea nui e hoʻomaopopo i ka PKU papaʻai ʻai ʻokoʻa ke kanaka i kekahi kanaka. Pono nā poʻe me PKU e hana pū me ke kauka a dietitian paha e mālama i kahi kaulike kūpono o nā meaola me ka palena ʻana i kā lākou lawe ʻana i ka phenylalanine. Pono lākou e nānā i kā lākou pae phenylalanine ma ka mālama ʻana i nā moʻolelo o ka nui o ka phenylalanine i nā meaʻai a lākou e ʻai ai a puni ka lā.

Ua hana kekahi mau ʻahaʻōlelo o ka mokuʻāina i nā bila e hāʻawi ana i kekahi ʻinikua uhi no nā meaʻai a me nā hana i pono e mālama ai iā PKU. E hōʻoia me kāu ʻahaʻōlelo o ka mokuʻāina a me ka ʻoihana inikua olakino e ʻike inā loaʻa kēia uhi iā ʻoe. Inā ʻaʻohe āu inikua olakino, hiki iā ʻoe ke nānā me kāu keʻena olakino kūloko e ʻike i nā koho i loaʻa e kōkua ai iā ʻoe e loaʻa i ka PKU formula.

Laau Lapaʻau

Ua ʻae ʻia e ka United States Food and Drug Administration (FDA) ka sapropterin (Kuvan) no ka mālama ʻana o PKU. Kōkua ka Sapropterin i ka hoʻohaʻahaʻa i nā pae phenylalanine. Pono e hoʻohana i kēia lāʻau i ka hoʻohui me kahi papa ʻaina PKU kūikawā. Eia naʻe, ʻaʻole holo pono ia no kēlā me kēia kanaka me PKU. ʻOi aku ka maikaʻi i nā keiki me nā hihia akahai o PKU.

ʻO ka hāpai a me ka phenylketonuria

Hiki paha i ka wahine me PKU ke makaʻu i nā pilikia, me ka hāʻule ʻole o ke keiki, inā ʻaʻole lākou e ukali i kahi papa ʻaina PKU i ko lākou wā hānau keiki. Aia kekahi manawa e hōʻike ʻia ka pēpē hānau ʻole i nā pae kiʻekiʻe o ka phenylalanine. Hiki i kēia ke alakaʻi i nā pilikia like ʻole i ka pēpē, e like me:

• nā pono kīnā o ka ʻike
• kīnā o ka naʻau
• lohi ka ulu ʻana
• kaumaha hānau haʻahaʻa
• he poʻo liʻiliʻi liʻiliʻi

ʻAʻoleʻike koke ʻia kēia mau hōʻailona i loko o kahi keiki hānau hou, akā e hana ke kauka i nā hoʻokolohua e nānā ai i nā hōʻailona o nā hopohopo olakino i loaʻa i kāu keiki.

ʻO ka nānā lōʻihi lōʻihi no ka poʻe me phenylketonuria

ʻO ka nānā lōʻihi loa no ka poʻe me PKU maikaʻi loa inā pili lākou i kahi papa ʻaina PKU kokoke a ma hope koke iho o ka hānau ʻana. Ke lohi nei ka ʻike a me ka mālama ʻana, e hōʻino paha ka lolo. Hiki i kēia ke alakaʻi i nā kīnā ʻole o ka ʻike e ka makahiki mua o ke ola o ke keiki. Hiki i ka PKU hana ʻole ʻia ke kumu pū:

• lohi ka hoʻomohala ʻana
• nā pilikia pili i ka hana a me ka naʻau
• nā pilikia neurological, e like me ka haʻalulu a me ka hopu ʻana

Hiki ke pale ʻia ka phenylketonuria?

ʻO PKU kahi ʻano moʻokalaleo, no laila ʻaʻole hiki ke pale ʻia. Eia nō naʻe, hiki ke hana ʻia kahi hoʻāʻo enzyme no ka poʻe e hoʻolālā i ka hānau keiki. ʻO kahi assay assay kahi hōʻike koko e hiki ke hoʻoholo inā lawe kekahi i ka ʻāpana hemahema i kumu iā PKU. E hana ʻia paha ka hōʻike ma ka wā hāpai e nānā i nā pēpē i hānau ʻole ʻia no PKU.

Inā loaʻa iā PKU, hiki iā ʻoe ke pale i nā ʻōuli ma ka hāhai ʻana i kāu papa ʻaina PKU i loko o kou ola.