E aʻo kākou e pili ana i nā Inborn Errors of Metabolism (IEM) ma nā ʻōlelo maʻalahi!

Ua noʻonoʻo paha ʻoe pehea e hāʻawi ai nā mea a mākou e ʻai ai a inu ai i ko mākou kino i ka ikehu a kūkulu i ko mākou kino? He hana kupaianaha loa ia, ʻeā? Akā i kekahi manawa, hiki ke loaʻa nā hemahema liʻiliʻi i kēia hana, ʻo ia hoʻi nā kīnā, mai ka hānau ʻana mai. ʻO ia ka mea a mākou e kamaʻilio ai i kēia lā. Mai hopohopo, me he mea lā he kumuhana paʻakikī kēia, akā e wehewehe wau iā ia ma ke ʻano maʻalahi e hiki ai iā ʻoe ke hoʻomaopopo.

He aha kēia mau mea i kapa ʻia ʻo Inborn Errors of Metabolism (IEM)?

I ka ʻōlelo maʻalahi, ʻo ka metabolism ke kaʻina hana kemika e hoʻololi i ka meaʻai a mākou e ʻai ai i ikehu a hoʻopau i nā huahana ʻōpala. Ua like ia me kahi hale hana liʻiliʻi i loko o ko mākou kino. I mea e hana pono ai kēia hale hana, pono iā ia nā mea āpau e pono ai.

I kēia manawa, ʻo Inborn Errors of Metabolism (IEM) , i kapa ʻia i kekahi manawa he mau maʻi metabolic hoʻoilina, he hui ia o nā kūlana kahi i hoʻokō pono ʻole ʻia ai ke kaʻina hana kemika aʻu i ʻōlelo ai. Ua like ia me ka wā e hana pono ʻole ai kahi mīkini i loko o kahi hale hana, a i ʻole ke kanaka e hana ana ma luna. Hana ʻia kēia no ka mea ʻaʻole i hana pono ʻia kekahi mau enzymes , ʻo ia hoʻi nā protein kūikawā e kōkua ana i kēia mau kaʻina hana kemika, a i ʻole no ka mea ʻaʻole lākou e hana pono.

He aha nā ʻano hewa i loaʻa?

ʻO ka ʻoiaʻiʻo, he mau haneli o nā ʻano hewa hānau o ka metabolism. I ka manawa pinepine, ua kapa ʻia kēia mau maʻi ma hope o ka enzyme i hana pono ʻole. E nānā kākou i kekahi o nā ʻano maʻamau:

• Nā maʻi mālama Lysosomal: E noʻonoʻo he mau hale hana liʻiliʻi ko ko kākou kino e hana ana i nā ʻōpala. I kekahi manawa, i nā maʻi i kapa ʻia ʻo "Lysosomal storage disorders," ʻaʻole hana pono kēlā mau hale hana. A laila, hōʻiliʻili nā ʻōpala ʻawahia e pono e wehe ʻia i loko o ke kino. Ua like ia me ka hōʻiliʻili ʻana o nā ʻōpala i loko o kou hale inā ʻaʻole hiki mai ke kaʻa ʻōpala. No ka laʻana, hāʻule nā ​​maʻi e like me "Hurler syndrome," "Gaucher disease," a me "Tay-Sachs disease," i loko o kēia māhele.

• Maʻi mimi syrup maple: He ʻano kēia e hōʻiliʻili ai nā waikawa amino, nā poloka kūkulu kumu o nā protein, i loko o ke kino. Hiki i kēia ke hōʻino i ka ʻōnaehana nerve a hoʻoulu i ka mimi e honi e like me ka syrup maple. Penei i loaʻa ai ka inoa o ka maʻi.

• ʻO ka maʻi mālama glycogen: ʻO kēia ka wā hiki ʻole i ke kino ke mālama pono i ke kō (glucose) mai ka meaʻai a mākou e ʻai ai. Hiki i kēia ke alakaʻi i ke kō koko haʻahaʻa.

• Nā maʻi mitochondrial:He mau ʻano liʻiliʻi nā Mitochondria e kōkua ana i nā pūnaewele i loko o ko kākou kino e hana i ka ikehu. I loko o kēia mau maʻi, ʻaʻole hana pono kēia mau mitochondria, no laila ʻaʻole hiki i nā pūnaewele ke hana i ka ikehu e pono ai lākou. Hiki i kēia ke hoʻopilikia i ka hana o nā ʻōpū koʻikoʻi he nui, e like me ka lolo, nā ʻiʻo, ke akepaʻa, a me nā puʻupaʻa.

• Nā maʻi Peroxisomal: Ua like kēia me nā maʻi mālama lysosomal. Maanei, hōʻiliʻili nā mea ʻawahia ʻino i loko o ke kino.

• Nā maʻi metabolism metala: Loaʻa i ko mākou kino nā ʻāpana liʻiliʻi o nā metala like ʻole. Eia nō naʻe, i loko o kēia mau maʻi, hōʻiliʻili kekahi mau metala i loko o ke kino a lilo i mea ʻawahia. No ka laʻana, i ka maʻi Wilson, hōʻiliʻili nui ke keleawe, a i ka hemochromatosis, hōʻiliʻili nui ka hao.

• Ka maʻi pōʻaiapuni Urea: ʻO kēia ka wā hiki ʻole i ke kino ke hoʻoneʻe pono i kahi mea ʻawahia i kapa ʻia ʻo ammonia, ka mea e hōʻiliʻili i loko o ke koko a hoʻoulu i nā pilikia.

ʻO wai ka mea i hoʻopilikia nui ʻia e kēia mau kūlana?

Hiki i kekahi ke loaʻa i kēia mau hewa hānau o ka metabolism (IEM). ʻO kēia no ka mea ua hoʻokumu ʻia lākou e nā loli i loko o kā mākou mau genes, a i ʻole DNA. He ʻokoʻa nā kumu genetic e hoʻopilikia ai i kēlā me kēia ʻano IEM. Eia nō naʻe, inā loaʻa i kekahi o kou ʻohana kēia maʻi, aia ʻoe i kahi pilikia kiʻekiʻe iki o ka loaʻa ʻana o kahi mea e like me kēia.

Pehea ka maʻamau o kēia mau mea?

Ma ke ao holoʻokoʻa, ua manaʻo ʻia aia ma kahi o hoʻokahi i loko o 2,500 mau pēpē i hānau ʻia e loaʻa paha kēia ʻano kīnā metabolic hānau. ʻO ke ʻano kēia, ʻaʻole ia he mea laha ʻole.

Pehea ka hopena o kēia maʻi metabolic i ke kino?

Hoʻopilikia nui kēia mau kūlana IEM i ka hiki ke hoʻohana pono i nā meaolaola a mākou e loaʻa ai mai nā meaʻai a mākou e ʻai ai a inu ai:

• Nā kalapona (nā mea momona a me nā kō)
• Ke kōpaʻa (glucose)
• Pūmua
• Nā momona

No laila, hiki i nā hōʻailona o kēia mau maʻi ke hoʻopilikia i nā ʻōnaehana kino like ʻole i loko o ke kino. Hiki iā lākou ke hoʻopilikia i ka ulu ʻana o ke keiki, ka ulu ʻana o ka noʻonoʻo, a me ka hiki ke hana i nā hana o kēlā me kēia lā .

He aha nā hōʻailona o kēia?

Hiki ke ʻokoʻa nā hōʻailona o kēia mau maʻi metabolic hānau mai kēlā kanaka a kēia kanaka. ʻOkoʻa nō hoʻi ke koʻikoʻi o ka maʻi mai kēlā kanaka a kēia kanaka. ʻO kekahi mau hōʻailona maʻamau:

• Nā lohi o ka ulu ʻana: ʻO ia hoʻi, ʻaʻole ulu nā mākau noʻonoʻo a me ke kino i ke ala kūpono no ka makahiki.
• Ka emi ʻana o ke kaumaha a i ʻole ka piʻi ʻana o ke kaumaha.
• ʻAʻole lawa ke kiʻekiʻe (nā pilikia o ka ulu ʻana).
• Nā hopu ʻana : ʻO ia hoʻi nā kūlana e like me ka hopu ʻana.
• ʻAi ʻole ka makemake .
• Palaualelo, luhi mau .
• Nā ʻala ʻē mai ka mimi, ka hou, a i ʻole ka hanu .
• ʻEha ʻōpū, luaʻi.

E hoʻomanaʻo, mai manaʻo he maʻi kou no ka mea he hoʻokahi a ʻelua paha o kēia mau hōʻailona kou. Eia nō naʻe, inā hoʻomau kēia mau hōʻailona, ​​ʻoiai hoʻi i kahi keiki ʻōpiopio, he mea nui e ʻimi i ke aʻo lapaʻau. Hiki i kekahi o kēia mau kūlana ke hoʻoweliweli i ke ola inā ʻaʻole mālama pono ʻia.

He aha nā kumu no kēia?

ʻO ke kumu nui o kēia mau kīnā metabolic hānau (IEM) he mutation genetic . Hana ʻia kēia i ka wā embryonic, ʻo ia hoʻi, i ka wā e noho ana ke pēpē i loko o ka ʻōpū, i ka wā e māhele ai nā cell a hana i nā mea hou.

Ke kuhikuhi nei kekahi o nā genes i loko o ko kākou kino i nā protein e hoʻokō i nā hopena kemika e pono ai no ke kaʻina hana metabolic ma hope o kā kākou ʻai ʻana. ʻO nā protein kūikawā i kapa ʻia ʻo nā enzymes ke hoʻokō i kēia mau hopena kemika.

I kēia manawa, i loko o ke kino o kekahi me kēia kūlana IEM, ʻaʻole loaʻa i kēlā mau enzymes nā kuhikuhi e pono ai lākou e hana pono i kā lākou hana. ʻO ia ke kumu e kū mai ai kēia mau hōʻailona.

Pehea ʻoe e ʻike ai i kēia mau mea?

ʻO ka hapa nui o ka manawa, ʻike nā kauka i kēia mau maʻi metabolic congenital ma mua o ka hānau ʻana o ka pēpē (prenatal screening) a i ʻole i ka wā o ka nānā ʻana i nā keiki hānau hou . Ma Sri Lanka, hoʻāʻo ʻia nā keiki hānau hou a pau no kekahi o kēia mau maʻi. No kekahi poʻe, hiki ke ʻike ʻia nā hōʻailona ma hope o ko lākou lilo ʻana i poʻe mākua, a ʻo ia ka manawa e ʻike ʻia ai ka maʻi.

He aha nā hoʻokolohua e hana ʻia nei no kēia?

No ka mea, he nui nā ʻano IEM, pono nā hoʻokolohua like ʻole e ʻike pololei i ka maʻi. ʻO kekahi o lākou:

• Hoʻāʻo metabolic: Pili kēia i ka lawe ʻana i kahi hāpana o ke koko a i ʻole ka mimi a nānā i nā ʻano i loko o nā waikawa amino (nā poloka kūkulu o nā protein), nā momona, a me nā pae glucose (kō). Hiki i kēia ke kōkua i ka wānana ʻana i ke ʻano o ka maʻi.
• Ka hoʻāʻo ʻana i ka hoʻoilina: Maanei, lawe ʻia kahi hāpana koko a i ʻole kahi hāpana lawai mai loko mai o ka waha a hoʻāʻo ʻia no nā loli i nā hoʻoilina.
• Amniocentesis: He hoʻāʻo kēia i hana ʻia i ka wā hāpai. Lawe ʻia kahi hāpana liʻiliʻi o ka wai amniotic e hoʻopuni ana i ka pēpē i loko o ka ʻōpū a nānā ʻia no nā ʻano maʻi genetic.
• Ka hoʻāʻo ʻana i ka glucose: Hana ʻia kēia e nānā i kou pae kō koko. Hana ʻia kēia inā loaʻa iā ʻoe nā hōʻailona e like me ka luhi pinepine, ka nāwaliwali, a i ʻole ke komo ʻana i nā maʻi.
• Hoʻokolokolo maka: Hiki i kekahi mau kūlana IEM ke hoʻopilikia i ka ʻike, no laila ua ʻōlelo ʻia kahi hoʻokolokolo maka.

He aha nā lāʻau lapaʻau no kēia?

ʻOkoʻa ka mālama ʻana no nā maʻi metabolic hānau ma muli o ke ʻano o ka maʻi. ʻO nā lāʻau lapaʻau nui:

• Nā hoʻololi ʻana i ka meaʻai: ʻOiai ʻaʻole hiki i ke kino ke hoʻohana pono i nā meaolaola i loko o kekahi mau meaʻai, hiki i ka hoʻopau ʻana i kēlā mau meaʻai mai ka meaʻai ke kōkua i ka kaohi ʻana i nā hōʻailona. I kekahi manawa hiki i kēia ke lilo i hana no ke ola holoʻokoʻa.
• Ke hāʻawi ʻana i nā lāʻau lapaʻau:Hiki i kāu kauka ke kuhikuhi i kekahi mau lāʻau lapaʻau e kōkua i kāu metabolism e hana pono. He mau pani enzyme a i ʻole nā ​​​​pani kemika ʻē aʻe paha kēia.
• Dialysis: He hana kēia e wehe ai i nā mea ʻawahia mai ke koko. He mea pono paha ia i kekahi mau pilikia.
• Hoʻoili kino: I kekahi mau hihia koʻikoʻi o IEM, no ka laʻana, pono paha kahi hoʻoili ate.

Nā ʻano lāʻau lapaʻau i hāʻawi ʻia

ʻOkoʻa nā ʻano lāʻau lapaʻau i hāʻawi ʻia ma muli o ke ʻano o ka maʻi. Eia kekahi mau laʻana:

• Hoʻonā glucose
• ʻInisulina `(Inisulina)`
• ʻO ka sodium benzoate a i ʻole ka sodium phenylacetate
• Nā mea hoʻohui waikawa amino
• Hoʻololi ʻenzyme
• Nā mea hoʻohui meaʻai

He aha nā hopena ʻaoʻao e hiki ke loaʻa inā ʻaʻole mālama ʻia?

Inā ʻaʻole mālama pono ʻia kēia mau kīnā metabolic congenital, ʻaʻole hiki i ke kino ke hoʻohana pono i kekahi mau meaʻai, a hiki i nā mea ʻawahia ke hōʻiliʻili i loko o ke koko, e alakaʻi ana i nā kūlana koʻikoʻi e like me:

• Ke loaʻa nei i kahi maʻi (Seizures)
• Ka hemahema o nā ʻōkana (e.g. akepaʻa, puʻupaʻa)
• Ka pōʻino o ka lolo

ʻO ia ke kumu he mea nui e ʻike koke i kēia mau maʻi a mālama pono iā lākou.

Pehea e ola ai me nā hōʻailona?

I ka wā e noho ana me kēia mau kūlana IEM, hiki iā ʻoe ke manaʻo i kekahi manawa luhi a palaualelo. Ke ʻoi aku ka ʻino o nā hōʻailona, ​​hiki ke paʻakikī ke hana i nā hana o kēlā me kēia lā. ʻO ka mea nui loa, ʻo ia ka hahai ʻana i ka hoʻolālā lapaʻau a kāu kauka e hāʻawi ai iā ʻoe. He mea nui loa ka ʻai wale ʻana i nā meaʻai kūpono i kou kino a hiki iā ʻoe ke hana pono.

I kekahi manawa, hiki ke paʻakikī ke pili i ka papaʻai a kāu kauka, ʻoiai inā he papaʻai kaupalena loa ia. I kēlā mau hihia, e kamaʻilio me kāu kauka a i ʻole he meaʻai meaʻai no ke kōkua i ka hoʻololi ʻana i kēia ʻano ʻai hou.

Hiki ke pale ʻia kēia mau mea?

ʻO ka ʻoiaʻiʻo, ʻaʻole hiki ke pale ʻia kēia mau kīnā hānau no ka mea ua hoʻokumu ʻia e nā loli genetic. Eia nō naʻe, inā ʻoe e hoʻolālā nei e hoʻomaka i kahi ʻohana, hiki iā ʻoe ke kamaʻilio me kāu kauka e pili ana i ke aʻoaʻo genetic a, inā pono , ka hoʻāʻo genetic . E kōkua kēia iā ʻoe e hoʻomaopopo i kou pilikia o ka loaʻa ʻana o kahi keiki me kēia maʻi genetic.

Pehea lā ke ʻano o ke ola me kēia kūlana?

ʻAʻohe lāʻau lapaʻau no kēia mau maʻi metabolic hānau (IEM). ʻO ke koʻikoʻi o kāu mau hōʻailona e hoʻoholo ai i kou wā e hiki mai ana. Hiki i kekahi mau kūlana IEM ke lilo i mea weliweli loa inā hōʻiliʻili nā mea ʻawahia i loko o ke koko i hiki ʻole i ke kino ke hoʻopau.

Akā,Inā ʻike mua ʻia ka maʻi, mālama pono ʻia, a hoʻololi ʻia ke ʻano o ka nohona, hiki i ka hapa nui o ka poʻe ke ola maʻamau a hauʻoli.

Āhea ʻoe e ʻike ai i ke kauka?

Inā ʻoi aku ka ʻino o kou mau hōʻailona ma muli o ka hahai ʻana i ka hoʻolālā lapaʻau i ʻōlelo ʻia e kāu kauka, e ʻike pono i ke kauka. Inā hāpai ʻoe, e nīnau i kāu kauka e pili ana i nā nānā ʻana ma mua o ka hānau ʻana a me nā keiki hānau hou e hiki ke kōkua i ka nānā ʻana i kēia mau kīnā hānau i kāu pēpē.

ʻO ka mea nui loa: Inā loaʻa iā ʻoe a i ʻole kāu keiki kahi maʻi hopu, e hele koke i ka lumi pilikia haukapila kokoke loa.

Nā nīnau e nīnau aku ai i kāu kauka/kauka

Inā ʻike ʻoe ua loaʻa iā ʻoe a i ʻole kekahi o kou ʻohana kēia ʻano maʻi metabolic hoʻoilina, hiki iā ʻoe ke nīnau i kāu kauka e like me:

• He aha ke ʻano o ka maʻi metabolic hoʻoilina i loaʻa iaʻu/kaʻu keiki?
• Pehea lā ke ʻano o ke ola me kēia maʻi?
• He aha nā mea e komo i loko o kaʻu hoʻolālā lapaʻau?
• He aha nā pilikia e pono iaʻu e hopohopo nui ai?
• Pehea kēia e pili ai i koʻu ola o kēlā me kēia lā?
• Aia kekahi mau hui kākoʻo kahi e hiki ai iā ʻoe ke hālāwai me nā poʻe ʻē aʻe me nā maʻi laha ʻole e like me kēia?

ʻO ka mea hope loa, kekahi mau mea e hoʻomanaʻo ai

ʻAe, no laila e hoʻomanaʻo hou mākou iā ʻoe i kekahi o nā mea a mākou i kamaʻilio ai āu e manaʻo nei he mea nui loa.

• ʻO nā hewa hānau o ka metabolism (IEM) he mau kūlana i hoʻokumu ʻia e nā kumu genetic e hoʻopilikia ai i ke kaʻina hana o ka hoʻololi ʻana i ka meaʻai a mākou e ʻai ai i ikehu a me ka wehe ʻana i nā huahana ʻōpala.
• Aia he mau haneli o nā ʻano maʻi e like me kēia, kēlā me kēia me nā hōʻailona a me nā lāʻau lapaʻau like ʻole.
• He mea nui ka ʻike mua ʻana a me ka mālama kūpono ʻana, no ka mea, hiki i kēia ke kōkua i nā poʻe he nui e ola i kahi ola maikaʻi aʻe.
• ʻO nā hoʻololi ʻana i ka meaʻai, nā lāʻau lapaʻau, a me kekahi manawa nā lāʻau lapaʻau kikoʻī ʻē aʻe e hiki ke kōkua i ka mālama ʻana i kēia mau maʻi.
• Inā he kānalua a he nīnau paha kāu, mai makaʻu e kamaʻilio me kāu kauka.

Manaʻolana wau he kōkua kēia ʻike iā ʻoe. E hoʻomanaʻo, ʻaʻole ʻoe hoʻokahi. Aia nā kauka, nā mea lapaʻau meaʻai, a me nā hui kākoʻo e kōkua i ka poʻe e noho nei me kēia mau maʻi.

Nā maʻi metabolic, nā maʻi genetic, nā enzymes, ka ʻai ʻana, nā maʻi kamaliʻi, ka hoʻāʻo genetic, metabolism