Aia kekahi pilikia me ka ʻōnaehana detoxification o kou kino? E aʻo kākou e pili ana i ka Urea Cycle Disorder!

Ua ʻike mākou a pau e loaʻa ana i ko mākou kino nā meaʻai e pono ai lākou mai ka meaʻai a mākou e ʻai ai. Eia kekahi, i loko o kēia kaʻina hana, hana ko mākou kino i nā mea makemake ʻole ʻia, i kekahi manawa nā mea ʻawahia. No laila, he ʻōnaehana kupaianaha ko ko mākou kino e kānana i kēia mau mea ʻawahia makemake ʻole ʻia a lawe i nā mea maikaʻi ma ke kino holoʻokoʻa. Akā, he aha ka mea e hana ai inā he nāwaliwali i loko o kēia ʻōnaehana 'kānana'? ʻO ia kekahi o nā pilikia koʻikoʻi a mākou e kamaʻilio ai i kēia lā.

He aha ke Kaʻapuni Urea? E hoʻomaopopo maʻalahi kākou!

E noʻonoʻo i ke kaʻina hana urea e like me kahi ʻōnaehana kānana e wehe ana i nā mea ʻawahia mai ko mākou kino. Kōkua ia i ka wehe ʻana i nā mea ʻino mai ko mākou kino a lawe i nā mea pono ma ke kino holoʻokoʻa.

Hoʻomaka kēia kaʻina hana ma hope o kā mākou ʻai ʻana. Hoʻokaʻawale ʻia nā protein i loko o nā meaʻai a mākou e ʻai ai i loko o ko mākou kino i nā waikawa amino . ʻO kēia mau waikawa amino nā ʻāpana kumu o nā protein. E like me ka mea e pono ai nā piliki e kūkulu i hale, he mea nui kēia mau waikawa amino no ke kūkulu ʻana i nā ʻiʻo, ka lawe ʻana i nā meaʻai, a me ka mālama ʻana i nā ʻōpū e hana pono.

I kēia manawa, ke hoʻoheheʻe ʻia kēia protein, hana ʻia kahi kinoea i kapa ʻia ʻo ammonia ma ke ʻano he huahana ʻōpala. He mea ʻawahia loa kēia ammonia i ko mākou kino. No laila, no ka hoʻopau ʻana i kēia ammonia ʻawahia, hoʻololi nā enzymes i loko o ko mākou kino - ʻo ia hoʻi, nā protein kūikawā e hana i nā hopena kemika - i kēia ammonia i mea ʻino ʻole i kapa ʻia ʻo urea i loko o ke ake. Loaʻa i kēia urea kekahi mau waikawa amino ʻē aʻe me ka ammonia:

• ʻArikinina
• ʻOrnitine
• ʻO Citrulline

A laila, lawe kēia mau enzymes i ka urea ma o ke koko i nā puʻupaʻa. ʻO ka hana hope loa i ka pōʻaiapuni urea, ʻo ia ke hoʻokuʻu ʻana i kēia urea i loko o kā mākou mimi. Pēlā ka hana o ka pōʻaiapuni urea, ma nā ʻōlelo maʻalahi.

No laila, he aha ka maʻi pōʻaiapuni urea?

ʻO ka Urea Cycle Disorder (UCD) he hui o nā kūlana kahi e hana pono ʻole ai ke kaʻina hana e halihali ana i ka urea ma ke kino holoʻokoʻa, e like me kā mākou i kūkākūkā ai ma mua. ʻO ka maʻamau, hana ʻia kēia e ka nele a i ʻole ka nele o kahi protein a enzyme paha e pono ai no kēlā kaʻina hana.

He kūlana hoʻoilina kēia, ʻo ia hoʻi he mea ia e kū nei mai ka wā hānau mai. Ua kapa ʻia e nā kauka he Inborn Error of Metabolism . ʻO kēia ke kumu o ka hōʻiliʻili ʻana o ka ammonia ʻawahia i loko o ko kākou koko. Ua kapa ʻia kēia ʻo Hyperammonemia . He hopena maikaʻi ʻole kēia kūlana i ko kākou kino, ʻoi aku ka lolo a me nā ʻōpū ʻē aʻe .

Aia kekahi mau ʻano maʻi o ke kaʻina hana urea?

ʻAe, aia ʻewalu mau maʻi pōʻaiapuni urea i ʻike ʻia. Hoʻokumu ʻia kēlā me kēia o lākou e ka nele o kahi enzyme a protein paha e pono ai no ka pōʻaiapuni urea:

• Ka hemahema o ka N-acetylglutamate synthase (NAGS)
• Ka hemahema o ka Carbamoylphosphate synthetase I (CPS1)
• Ka hemahema o ka Ornithine transcarbamylase (OTC)
• ʻO ka hemahema o Argininosuccinate synthase 1 (ASS1) a i ʻole Citrullinemia type I
• Ka hemahema o Citrin a i ʻole Citrullinemia ʻano II
• Ka hemahema o ka Argininosuccinic lyase (ASL)
• Ka hemahema o Arginase (ARG)
• Ka hemahema o ka Ornithine translocase

ʻOiai paha he ʻano ʻepekema iki kēia, ʻo ke ʻano o kēlā me kēia, aia kahi pilikia ma kahi ʻanuʻu kikoʻī o ke kaʻina hana urea.

ʻO wai ka mea hiki ke hoʻomohala i kēia maʻi?

He maʻi hoʻoilina kēia e hiki ke hoʻopilikia i kekahi. Hiki ke ʻike ʻia nā pēpē hānau hou me nā Universal Newborn Screening Blood Tests, i hana ʻia i loko o kekahi mau lā o ka hānau ʻana. Eia nō naʻe, i kekahi manawa ʻike ʻia nā hōʻailona ma hope o ke ola. I kēlā hihia, hiki ke ʻike ʻia nā pākeke me ka maʻi.

He mea kēia i loaʻa mai nā hanauna mai?

ʻAe, he maʻi hoʻoilina ka hemahema o ka pōʻaiapuni urea. I ka hapanui o nā hihia, i mea e loaʻa ai kēia maʻi, pono ʻoe e hoʻoilina i kahi mutation genetic mai kou makuahine a me kou makuakāne. Ua kapa ʻia kēia he autosomal recessive transmission. Hoʻoili ʻia kekahi mau ʻano i kāu mau keiki ma hope o ka hāpai ʻana, i pili ʻia i kahi chromosome sex. Ua kapa ʻia kēia he X-linked transmission.

Pehea ka maʻamau o kēia kūlana?

Ma ʻAmelika Hui Pū ʻIa, ua manaʻo ʻia e pili ana kēia maʻi i hoʻokahi i loko o 35,000 mau kānaka. ʻOiai ʻaʻole loaʻa nā helu kikoʻī ma Sri Lanka, ua manaʻo ʻia he maʻi maʻamau ʻole kēia.

He aha nā hōʻailona o ka nele o ke kaʻina hana urea?

ʻIke pinepine ʻia nā hōʻailona mua o kēia maʻi i ka wā hānau. Eia nō naʻe, hiki ke ʻike ʻia kēia mau hōʻailona i kēlā me kēia makahiki. E nānā inā kamaʻāina kēia mau hōʻailona iā ʻoe:

• Ka hiamoe, ka luhi nui (Lethargy)
• Ka uē pinepine a me ka hoʻomaha ʻole i nā pēpē (Fussiness in babies)
• Ka luaʻi a i ʻole ka luaʻi
• ʻAʻole hiki ke ʻai a hānai paha
• Ka hanu wikiwiki loa a lohi paha
• Ka huikau, ka nalowale o ka ʻike

Hoʻokumu ʻia kēia mau hōʻailona e ka piʻi ʻana o ka nui o ka ammonia i loko o ke koko (Hyperammonemia). Hiki i kēia mau hōʻailona ke ʻano mai ka ʻoluʻolu a i ka ʻino . Hiki paha iā ʻoe ke ʻike i nā mea e like me:

• Nā pilikia me ka ulu ʻana o ka noʻonoʻo a me nā pilikia noʻonoʻo
• Nā loli ʻano
• Nā lohi o ka ulu ʻana - ʻO ke ʻano kēia, ʻaʻole kūpono ka ulu ʻana o ke keiki no ko lākou mau makahiki.
• Ka hōʻiliʻili ʻana o ka wai a puni ka lolo (Cerebral Edema)
• ʻOʻoleʻa o nā ʻiʻo, ka ʻūlū ʻana (Spasticity)
• Nā kūlana epileptic, nā hopu ʻana
• Ke kūlana o ka ʻike ʻole, coma

Mea nui: Hiki i nā hōʻailona e hoʻopilikia ana i ka lolo ke hoʻoweliweli i ke ola, no laila he mea nui e ʻimi koke i ke kōkua lapaʻau inā loaʻa iā ʻoe kēia mau hōʻailona.

He aha ke kumu o kēia?

E like me ka mea i ʻōlelo ʻia ma mua, ʻo ka hemahema o ke kaʻina hana urea ke kumu o kahi mutation genetic . ʻO kēlā me kēia ʻano a mākou i kūkākūkā ai ma mua ua hoʻokumu ʻia e kahi mutation genetic ʻokoʻa:

• Ka hemahema o ka N-acetylglutamate synthase: kahi mutation i loko o ka gene NAGS .
• Ka hemahema o ka Carbamoylphosphate synthetase I: kahi hoʻololi ʻana i ka gene CPS1 .
• ʻO ka hemahema o ka Ornithine transcarbamylase: kahi mutation i loko o ka gene OTC .
• Ka hemahema o Argininosuccinate synthase 1: kahi mutation i loko o ka gene ASS1 .
• Ka hemahema o Citrin: He mutation i loko o ka gene SLC25A13 .
• ʻO ka hemahema o Argininosuccinic lyase: kahi mutation i loko o ka gene ASL .
• Ka hemahema o Arginase: He loli ʻana i loko o ka gene ARG .
• ʻO ka hemahema o ka Ornithine translocase: kahi mutation i loko o ka gene SLC25A15 .

ʻO kēia mau genes ke kuleana no ka hana ʻana i nā protein a me nā enzymes e pono ai e lawe i ka urea ma ke kino holoʻokoʻa. Ke hana ʻia kahi mutation genetic, ʻaʻole lawa ka hana ʻana o ke kino i kēia mau protein a i ʻole nā ​​enzymes. A laila, ʻaʻole hiki i ke kino ke wehe i ka ammonia ʻawahia, ka mea e hōʻiliʻili ana i loko o ke koko a hoʻoulu i nā hōʻailona.

Pehea e ʻike ʻia ai kēia maʻi?

E nīnau mua kāu kauka e pili ana i kāu mau hōʻailona, ​​​​hana i kahi hoʻokolokolo kino, a lawe i kahi mōʻaukala olakino piha. A laila, hiki iā lākou ke kauoha i nā hoʻokolohua koko a mimi paha e hōʻoia i ke kūlana.

He aha nā hoʻokolohua e hana ʻia nei no kēia?

• ʻIkepili waikawa amino a i ʻole ka nānā ʻana: Ke ana nei kahi hāpana o kou koko a mimi paha i nā pae o nā waikawa amino i loko o kou kino.
• Biopsy o ke akepaʻa: Lawe ʻia kahi ʻāpana liʻiliʻi o ke akepaʻa a nānā ʻia ma lalo o kahi microscope e ʻike ai inā he mau enzymes e pili ana i kēia kūlana a pehea lākou e hana ai.
• Hoʻāʻo Genetic: Lawe ʻia kahi hāpana koko e nānā i nā loli genetic e hiki ke hoʻoulu i kāu mau hōʻailona.

Pehea e mālama ʻia ai kēia?

ʻO ka pahuhopu nui o ka mālama ʻana i nā maʻi pōʻaiapuni urea, ʻo ia ka hoʻemi ʻana i ka nui o ka ammonia i loko o ke koko. Hiki ke hana ʻia kēia ma o:

• Ka ʻai ʻana i ka meaʻai haʻahaʻa i ka protein.
• Dialysis: He hana i hoʻohana ʻia e wehe i nā mea ʻawahia mai ke koko. Ua kapa ʻia kēia he hemodialysis .
• Ka hoʻohana ʻana i nā lāʻau lapaʻau: Kōkua nā lāʻau lapaʻau e like me Sodium Phenylacetate a me Sodium Benzoate (e.g. Ammonul® ) i ka wehe ʻana i ka ammonia mai ke koko.
• ʻO ka lawe ʻana i nā mea hoʻohui Amino Acid: ʻO nā mea hoʻohui e like me Arginine a i ʻole Citrulline e kōkua i ke kino e hoʻopau i ka pōʻaiapuni urea.

I nā hihia koʻikoʻi loa o ka hyperammonemia, pono paha ka hoʻoili ʻana o ke ake .

Ma mua o ka hoʻomaka ʻana i ka lāʻau lapaʻau, e kamaʻilio me kāu kauka e pili ana i nā hopena ʻaoʻao o nā lāʻau lapaʻau a me nā kaʻina hana hou. Eia kekahi, e haʻi i kāu kauka e pili ana i nā lāʻau lapaʻau a i ʻole nā ​​​​mea hoʻohui ʻē aʻe āu e lawe nei. Hiki i kēia ke kōkua iā ʻoe e pale i nā hopena ʻaoʻao i makemake ʻole ʻia.

Inā loaʻa iā ʻoe kahi maʻi pōʻaiapuni urea, he aha nā meaʻai āu e pale aku ai?

ʻO ka ʻai haʻahaʻa i ka protein ke ala maikaʻi loa e mālama ai i kēia kūlana. ʻO kēia no ka mea ke wāwahi ʻia ka protein i loko o ka meaʻai a mākou e ʻai ai, hoʻokumu ʻia nā waikawa amino, a laila hana i ka ammonia. ʻAʻole hiki i ke kanaka me ka maʻi pōʻaiapuni urea ke hoʻopau maoli i kēia ammonia. No laila, ʻo ka ʻai ʻana i kahi meaʻai haʻahaʻa i ka protein hiki ke hōʻemi i ka pilikia o ka hōʻiliʻili ʻana o ka ammonia i loko o ke koko.

Eia kekahi o nā meaʻai nui i waiwai i ka protein e pono ai ʻoe e kaupalena mai kāu papaʻai:

• Iʻa
• Moa
• Nā hua manu
• Pipi
• Nā ʻano pīni
• Tofu a i ʻole nā ​​​​meaʻai i loaʻa ka soy

Eia nō naʻe, ʻoiai he mea nui ka protein no ko mākou kino, ʻo ka hōʻoki loa ʻana iā ia hiki ke loaʻa nā hopena ʻaoʻao, e like me ka ulu ʻana o ka ulu. No laila, hiki i kāu kauka ke kuhikuhi iā ʻoe i kahi meaʻai meaʻai a meaʻai meaʻai paha . Hiki iā lākou ke kōkua iā ʻoe e kāohi i ka nui o ka protein āu e ʻai ai. I kekahi manawa, hiki i kāu kauka ke ʻōlelo aku i ka lawe ʻana i nā mea hoʻohui huaora, mineral, a i ʻole amino acid e kōkua i ka hoʻopiha ʻana i nā hemahema meaʻai i hoʻokumu ʻia e ka palena protein.

Hiki ke hānai ʻia kahi pēpē hānau hou i ka waiū umauma inā loaʻa iā ia kēia maʻi?

Loaʻa i kāu pēpē ka protein mai ka waiū umauma. ʻOiai hiki iā ʻoe ke hānai i ka waiū umauma, e nānā pinepine kāu kauka i ke ʻano o kona hopena i kāu pēpē. Inā pono ʻoe e hōʻemi i ka lawe ʻana o ka protein i kāu pēpē, hiki i kāu kauka ke ʻōlelo aku e hāʻawi ʻoe i kāu pēpē i kahi waiū pēpē kūikawā ma kahi o ka waiū umauma.

Hiki ke pale ʻia kēia kūlana?

He maʻi hoʻoilina kēia a ʻaʻole hiki ke pale ʻia. Inā ʻoe e hoʻolālā ana e hāpai a makemake ʻoe e ʻike i ka pilikia o ka loaʻa ʻana o kahi keiki me kahi maʻi hoʻoilina, e kamaʻilio me kāu kauka e pili ana i ke aʻo ʻana i nā hoʻoilina .

He aha ke ʻano o ka manaʻolana e hiki ai i kahi kanaka me ka maʻi pōʻaiapuni urea?

I ka manawa e ʻike ai kāu kauka i kēia maʻi, e hoʻomaka ʻo ia i ka lāʻau lapaʻau e hōʻemi i ka nui o ka ammonia i loko o ke koko. No nā pēpē hānau hou, e hoʻomaka koke ka lāʻau lapaʻau ma hope o ka hānau ʻana e pale i nā pilikia. Ke hoʻomaka ka lāʻau lapaʻau, e nānā ke kauka i ka pae ammonia koko a hiki i ka hoʻi ʻana i kahi pae palekana.

Pono kēia kūlana i ka nānā ʻana i ke ola holoʻokoʻa a me kahi papaʻai haʻahaʻa protein kūikawā . ʻO ka ʻai nui ʻana i ka protein hiki ke hoʻi hou mai nā hōʻailona.

Inā lilo ka hyperammonemia i mea koʻikoʻi, hiki iā ia ke alakaʻi i ka hōʻino ʻana o ka lolo, ka coma, a i ʻole ka make. No laila, e kamaʻilio me kāu kauka e pili ana i ke ʻano o ka mālama ʻana i kou kūlana a i ʻole ke kūlana o kāu pēpē e pale aku ai i kēia mau pilikia e hoʻoweliweli ana i ke ola.

He aha ka wānana no ka ho'ōla hou ʻana ma kēia ʻano?

Aia kou ʻano i ke koʻikoʻi o kou mau hōʻailona. Inā ʻike mua ʻia, mālama ʻia, a mālama ʻia i loko o kou ola a pau, hiki i kou manaʻolana ola ke maʻamau. Eia nō naʻe, inā waiho ʻole ʻia a ʻaʻole ʻike ʻia paha, hiki ke make.

Āhea wau e ʻike ai i ke kauka?

Inā loaʻa iā ʻoe nā hōʻailona o kēia ʻano, ʻoiai inā ʻoe e luhi loa ana a ʻaʻole hiki ke ʻai , e ʻike i ke kauka.

I ka ulu ʻana o kāu keiki, he mea nui e nānā inā ua hoʻokō ʻo ia i kāna mau pae hoʻomohala . ʻO ia hoʻi, inā hana ʻo ia i nā mea kūpono i kona mau makahiki. A i ʻole, e ʻike i ke kauka.

Inā loaʻa iā ʻoe a i ʻole kāu pēpē kahi maʻi ʻōʻili a paʻakikī paha ka hanu ʻana, e hele koke i ka lumi pilikia o ka haukapila.

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

• Pehea e mālama ai i ke kūlana o kaʻu keiki?
• Pono anei au e ʻike i kahi mea lapaʻau meaʻai?
• He aha nā hopena ʻaoʻao o ka lāʻau lapaʻau?
• He aha nā meaʻai e pono iaʻu e hoʻopau?

He mea maʻamau ka hopohopo ke ʻike ʻoe ua loaʻa iā ʻoe a i ʻole kāu pēpē kēia maʻi hoʻoilina laha ʻole. Hiki i kāu kauka ke kōkua iā ʻoe e mālama i ke kūlana. Ma ka ʻai ʻana i ka meaʻai haʻahaʻa-protein, hiki iā ʻoe ke hōʻemi i ke ʻano o ka hopena o ke kūlana i kou kino. Hiki i kēia ke kōkua i ka hōʻemi ʻana i nā hōʻailona a kōkua iā ʻoe e ʻoluʻolu. Inā luhi mau ʻoe, pilikia i ka ʻai ʻana, a i ʻole he mau loli ʻē i kāu ʻano, e ʻike pono i ke kauka.

Nā mea nui e hoʻomanaʻo (Leka Lawe-Home)

ʻAe, ua kamaʻilio nui mākou e pili ana i ka Urea Cycle Disorder. I ka hōʻuluʻulu manaʻo, eia kekahi mau mea e hoʻomanaʻo ai:

• He kūlana hoʻoilina kēia: ʻo ia hoʻi he mea ia i hānau ʻia me ʻoe. ʻO ka mea e hana ʻia ma ʻaneʻi, ʻaʻole hiki i ko mākou kino ke wehe pono i kahi mea ʻawahia i kapa ʻia ʻo ka ammonia.
• He mea nui loa ka ʻike ʻana i ka wā mua:ʻOi loa aku no nā pēpē hānau hou. Inā ʻike ʻoe i nā hōʻailona, ​​e ʻimi koke i ke kōkua lapaʻau.
• Aia nā lāʻau lapaʻau: ʻO ka mea nui, ʻo ia ke kāohi i ka nui o ka ammonia i loko o ke koko. Hiki ke hana ʻia kēia me ka ʻai haʻahaʻa-protein, nā lāʻau lapaʻau, a me nā lāʻau lapaʻau ʻē aʻe.
• Pono ka hoʻokele no ke ola holoʻokoʻa: Inā mālama pono ʻia, hiki i ka hapa nui o ka poʻe ke ola maʻamau.
• E hahai i nā ʻōlelo aʻoaʻo lapaʻau: He mea nui loa i kou olakino ke hahai pololei i nā ʻōlelo aʻoaʻo a kāu kauka a me ka meaʻai meaʻai.

Mai hopohopo. ʻO ka mea nui loa, ʻo ia ka makaʻala i kēia kūlana a loaʻa ke kōkua lapaʻau kūpono. Inā he mau nīnau hou aku kāu, mai makaʻu e kamaʻilio me kāu kauka.

ʻO ke kaʻina hana Urea, ammonia, nā maʻi genetic, metabolism protein, hyperammonemia, nā maʻi pediatric, nā maʻi metabolic