Loaʻa i kāu pēpē kēia mau hōʻailona? E kamaʻilio kākou e pili ana i ka Leigh Syndrome!

He mea hoihoi loa ka ʻike ʻana i kahi pēpē hānau hou, ʻeā? Akā i kekahi manawa, ʻoiai inā ʻike ʻia lākou he olakino i ka wā mua, hiki iā lākou ke hoʻomaka e hōʻike i nā hōʻailona ʻē ma hope o kekahi mau mahina. Inā pilikia lākou i ka hānai waiū, uē nui, a loaʻa paha nā maʻi ʻūlū, he mau hōʻailona paha kēia o kahi maʻi genetic laha ʻole i kapa ʻia ʻo Leigh Syndrome. He mea kaumaha maoli kēia, akā he mea nui e makaʻala i ia mea.

He aha ka Leigh Syndrome? I ka ʻōlelo maʻalahi...

ʻO ka Leigh Syndrome, i ʻike ʻia hoʻi ʻo Leigh's Disease, he maʻi genetic kakaikahi loa. Hoʻopilikia nui ia i ka ʻōnaehana nerve waena o kāu pēpē. ʻO ia hoʻi, ka lolo, ke kaula spinal, a me nā aʻalolo. E noʻonoʻo, he pēpē me kēia maʻi e ʻike ʻia he olakino i ka hapa nui o ka manawa i kona hānau ʻia ʻana. Akā i ka hala ʻana o ka manawa, nāwaliwali mālie nā cell i loko o kāna ʻōnaehana nerve a make paha.

Hoʻomaka pinepine kēia mau hōʻailona i ka wā he 3 mahina paha ka pēpē, a i ʻole ma mua o 2 makahiki. ʻO nā mea mua āu e ʻike ai, ʻo ia ka paʻakikī i ka omo ʻana, ka hōʻole ʻana e ʻai, ka uē ʻana me ke kumu ʻole, a me nā maʻi ʻōʻili.

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau mau loa no ka maʻi Lee. He maʻi hoʻoweliweli ia i ke ola. ʻO ka hapa nui o nā keiki me kēia maʻi e make ma mua o 3 mau makahiki. Eia nō naʻe, he mea kakaikahi loa, hiki ke loaʻa kēia maʻi i nā mākua ʻōpio a ʻelemakule paha.

He aha nā maʻi Mitochondrial? ʻO nā hale hana ikehu o ko kākou kino!

I mea e hoʻomaopopo ai i kēia, pono mua mākou e ʻike iki e pili ana i ka mitochondria . I ka ʻōlelo maʻalahi, ua like nā mitochondria me nā hale hana ikehu liʻiliʻi i loko o nā pūnaewele o ko mākou kino. ʻO kēia nā mea e hana i ka ikehu mai nā waikawa momona a me ka glucose i ka meaʻai a mākou e ʻai ai a hoʻololi iā ia i mea i kapa ʻia ʻo adenosine triphosphate (ATP) . ʻO kēia ATP ka mea e hāʻawi i kā mākou mau pūnaewele i ka ikehu e hana.

Loaʻa nā Mitochondria i loko o kēlā me kēia cell koe wale nō ko kākou mau cell koko ʻulaʻula. ʻO nā maʻi Mitochondrial nā kūlana e kū mai ana i ka wā ʻaʻole hana pono kēia mau mitochondria. ʻAʻole loaʻa i nā cell ka ikehu e pono ai lākou, ʻo ia ke kumu e hōʻino ʻia ai a make paha nā cell.

Pono ko kākou ʻōnaehana nerve i ka nui o ka ikehu e hana ai. I ka maʻi Lee, ua hōʻino ʻia a luku ʻia paha nā pūnaewele i loko o ka ʻōnaehana nerve o ke keiki, ʻoiai nā pūnaewele e hāʻawi ana i ka ikehu i ka lolo, nā aʻalolo, a me ke kaula spinal.

Aia kekahi mau inoa ʻē aʻe no ka Leigh Syndrome?

ʻAe, ua kapa mua ʻia kēia maʻi e ke kauka Pelekane ʻo Archibald Denis Leigh, nāna i wehewehe iā ia i ka makahiki 1951. Ua kapa ʻo ia iā ia ʻo Subacute Necrotizing Encephalomyelopathy (SNE) .He maʻi ka Encephalomyelopathy e hoʻopilikia ana i ka lolo a me ke kaula kuamoʻo. Eia nō naʻe, ua kapa ʻia e nā kauka he nui i kēia lā ʻo ia ka maʻi Lee a i ʻole ka maʻi Lee.

He aha nā ʻano nui o ka Leigh Syndrome?

Aia kekahi mau ʻano nui o ka maʻi Lee:

• ʻO ka Infantile Leigh Syndrome: ʻO kēia ke ʻano maʻamau. ʻIke ʻia nā hōʻailona ma mua o ka piha ʻana o ke keiki i 2 mau makahiki. Ua kapa ʻia hoʻi kēia ʻo Classical Leigh Syndrome. Hoʻopilikia like ia i nā kāne a me nā wahine.
• ʻO ka maʻi Lee i hoʻomaka i ka pākeke: ʻIke ʻia nā hōʻailona ma hope o 2 mau makahiki, i kekahi manawa i ka wā ʻōpio a i ʻole ka wā makua mua. He mea kākaʻikahi loa kēia. Hoʻopilikia pinepine kēia ʻano i nā kāne. Eia kekahi, ʻoi aku ka lohi o ka holomua o ka maʻi ma mua o ke ʻano hoʻomaka mua.
• ʻO ka maʻi Leigh-like: I kēia hihia, hiki i kekahi kanaka ke hōʻike i kekahi o nā hōʻailona o ka maʻi Leigh, akā ʻaʻole hōʻike nā kiʻi kiʻi i nā hōʻailona o ka maʻi ma ka lolo.

Pehea ka maʻamau o kēia maʻi?

Ua manaʻo ʻia ka maʻi Lee kahiko (early) e kū mai ana ma kahi o hoʻokahi i loko o 40,000 mau pēpē hānau hou ma ka honua holoʻokoʻa. Eia nō naʻe, ʻoi aku ka maʻamau ma kekahi mau wahi ʻāina. Eia kekahi laʻana:

• Hoʻokahi i loko o 2,000 mau pēpē hānau hou ma ka ʻāina ʻo Lac-Saint-Jean ma Quebec, Kanada.
• Hoʻokahi i loko o 1,700 mau pēpē hānau hou ma nā mokupuni ʻo Faroe, aia ma waena o Iceland a me Scotland.

ʻAʻole i loaʻa ke kumu kūpono no kēia.

He aha ke kumu o ka Leigh Syndrome?

Ua ʻike nā loea hiki ke hoʻoulu ʻia ka maʻi Lee e nā mutations ma mua o 75 mau genes . Hoʻopilikia kēia mau mutations i ka hiki o ko mākou kino ke hana i ka ATP (ikehu).

ʻEwalu o 10 mau keiki me Lee syndrome e hoʻoilina i ke kūlana ma nā ʻano nui ʻelua:

1. Maʻi autosomal recessive: Ma kēia, hoʻoilina ke keiki i ka mutation gene like mai nā mākua ʻelua. ʻO nā mākua wale nō ka mea lawe i kēia mutation a ʻaʻole i loaʻa iā lākou ka maʻi.

2. Maʻi hoʻoilina recessive X-linked: Hoʻokumu ʻia kēia e kahi mutation ma ka chromosome X. Hiki ke hele mai ia mai ka makuahine a i ʻole ka makuakāne. Inā loaʻa kēia mutation i ka makuahine ma kekahi o kāna mau chromosome X, aia kahi manawa 1 i loko o 4 e hoʻoilina ai kāna keikikāne a kaikamahine paha i ka mutation. Inā hoʻoilina ke keikikāne i kēia mutation, e loaʻa iā ia ka Lee syndrome; ʻaʻole e loaʻa i ke kaikamahine. Eia naʻe, hiki i ke kaikamahine ke hoʻoili i ka gene kīnā i kāna mau keiki e hiki mai ana. Hiki i ka makuakāne ke hoʻoili i kahi chromosome X i hoʻololi ʻia i kāna kaikamahine, akā ʻaʻole i kāna keikikāne.

Pehea e hoʻololi ai nā loli i ka DNA mitochondrial i ka maʻi Lee?

Ma kahi o 2 i loko o 10 mau keiki he mitochondrial DNA (mtDNA)Ua hoʻoilina ʻia kahi loli ʻana o ka gene mai ka makuahine mai. Hiki ke hoʻoili ʻia kēia loli ʻana i nā kāne a me nā wahine. A laila hiki ke hoʻopilikia i nā hanauna āpau o kahi ʻohana. I kekahi manawa, hiki ke hana ʻia kahi loli ʻana o ka mtDNA kūlohelohe. ʻO ka loli ʻana o ka mtDNA maʻamau i ʻike ʻia ma ka maʻi Leigh ʻo ia ka mea e pale ai i ka gene `MT-ATP6` mai ka hana ʻana i ka `ATP`.

He aha nā hōʻailona o ka Leigh Syndrome?

ʻIke pinepine ʻia nā hōʻailona o ka maʻi Lee i loko o nā makahiki ʻelua mua o ke ola o kahi pēpē. I ka wā mua, hiki i kāu pēpē ke hōʻea i nā pae hoʻomohala maʻamau, e like me ke kau ʻana i ko lākou poʻo i luna. A laila, emi mālie lākou, ʻo ia hoʻi, nalowale lākou i kēia mau hiki a hōʻike paha i nā lohi kino a i ʻole ka ulu ʻana.

ʻO nā hōʻailona mua o ka maʻi Lee:

• Paʻakikī i ka moni ʻana ( dysphagia ), pilikia omo ʻana a i ʻole ka hānai ʻana.
• Ka maʻi kahe a me ka luaʻi.
• ʻAʻohe leo o nā ʻiʻo ( hypotonia ).
• Hoʻomaha pinepine a me ka uē mau.
• Nāwaliwali i ka kaohi ʻana i ke poʻo a me nā reflexes.

I ka holomua ʻana o ka maʻi, hiki ke ʻike ʻia nā hōʻailona ʻē aʻe. Hiki ke ʻike ʻia kēia mau hōʻailona i nā pae hope o ka maʻi Lee. ʻO lākou kekahi:

• ʻO kahi kūlana e like me ka dementia .
• Nā pilikia neʻe a me ke kaulike, no ka laʻana ataxia (kūlana i ka wā e hele ana, nalowale ke kaulike).
• Ka paʻakikī i ka haʻi pololei ʻana i nā huaʻōlelo ( dysarthria ).
• Nā ʻūmiʻi ʻana o nā ʻiʻo i makemake ʻole ʻia ( dystonia ).
• ʻŌwili a ʻoʻoleʻa paha nā ʻiʻo ( spasticity ).
• ʻO ka maʻi lolo hapa.
• Ka nāwaliwali o nā aʻalolo i nā lālā ( peripheral neuropathy ).
• Nā ʻōhūhū.
• Ka lohi o ka ulu kino.

Pehea ka hopena o ka Leigh Syndrome i ka ʻike?

Hiki i ka maʻi Lee ke hoʻopilikia i nā aʻalolo i nā maka, e hana ana i nā pilikia e like me:

• Nā maka keʻa ( strabismus ).
• ʻO ka atrophy optic ( ka atrophy o ke aʻalolo optic ).
• Ka nāwaliwali a i ʻole ka lolo o nā maka.
• Nā neʻe wikiwiki o nā maka me ka makemake ʻole ( nystagmus ).
• Ka nalowale ʻana o ka ʻike.

I nā pae hope, hiki i nā poʻe ʻōpio a i ʻole nā ​​​​mākua me Lee syndrome ke loaʻa i ka makapō kala a me ka nalowale o ka ʻike waena ( ʻike haʻahaʻa ).

He aha nā pilikia e hiki ke loaʻa mai ka Leigh Syndrome?

ʻO ka lactic acidosis kahi kūlana kahi e hōʻiliʻili ai ka lactic acid i loko o ke koko o ke keiki ma muli o ka Lee syndrome.Hiki ke hana ʻia kēia. Hoʻopuka ko mākou kino i ka waikawa lactic ke emi loa ka pae oxygen i loko o nā ʻāpana e kākoʻo i kā lākou metabolism (e hoʻololi ana i nā kalapona i ikehu). Eia kekahi, hiki ke piʻi ka nui o ke kalapona dioxide i loko o ko lākou koko.

ʻO ka lactic acidosis a me ka piʻi ʻana o ke kalapona dioxide e hiki ke hana i kēia mau mea:

• Nā pilikia hanu: pōkole o ka hanu ( dyspnea ), pau ka hanu ʻana no ka manawa pōkole ( apnea ), a me ka hanu ʻokoʻa a wikiwiki paha ( hyperventilation ).
• Maʻi puʻuwai: mānoanoa o ka ʻiʻo puʻuwai ( hypertrophic cardiomyopathy ).
• Nā pilikia puʻupaʻa.

Pehea e ʻike ʻia ai ka Leigh Syndrome?

Hiki i kāu kauka ke kauoha i nā hoʻokolohua e like me kēia:

• Nā hoʻāʻo koko: E nānā i nā māka enzyme e hōʻike ana i ka lactic acidosis a me ka Leigh syndrome.
• Nā hoʻāʻo kiʻi e like me ke kiʻi MRI (Magnetic Resonance Imaging): E nānā no ka hōʻino ʻia o ka ʻiʻo o ka lolo (nā ʻeha).
• Nā hoʻāʻo genetic: No ka ʻike pono ʻana i ka loli genetic e hoʻokumu nei i ka maʻi.

Pehea e mālama ʻia ai ka Leigh Syndrome?

ʻO ka mea pōʻino, ʻaʻohe lāʻau lapaʻau mau loa no ka maʻi Lee. ʻO ke kumu nui o ka lāʻau lapaʻau ʻana, ʻo ia ke kāohi ʻana i nā hōʻailona a me ka hōʻoluʻolu ʻana i ke keiki. He maʻi make kēia.

Hiki i kāu keiki ke loaʻa kahi hōʻoluʻolu mai nā mea e like me:

• E mālama i ka lactic acidosis me ka citric acid (sodium citrate) a i ʻole sodium bicarbonate .
• Ke hāʻawi ʻana i nā inikini o ka thiamine (Vitamin B1) e lohi i ka holomua o ka maʻi.

Hiki i kekahi mau keiki me nā hemahema enzyme ke pōmaikaʻi mai ka ʻai momona kiʻekiʻe a haʻahaʻa kalaka. ʻO kekahi mau keiki i pilikia i ka ʻai ʻana, pono paha e hānai ʻia ma o kahi ʻōmole ('enteral nutrition').

He aha kāu e hana ai inā loaʻa i kāu keiki ka Leigh Syndrome?

Hiki ke paʻakikī ka mālama ʻana i kahi keiki me kahi maʻi e hoʻopau ana i ke ola. Eia kekahi mau mea hiki iā ʻoe ke hana e kōkua i ka hōʻemi ʻana i ke kaumaha, ka hopohopo, a me ke kaumaha āu e manaʻo ai i kēia manawa:

• E ʻimi i nā ala olakino e hōʻemi ai i ke kaumaha: e like me ke kamaʻilio ʻana me kahi hoaaloha a i ʻole ke komo ʻana i kahi hana leʻaleʻa āu e makemake ai.
• E hui pū me kahi hui kākoʻo: Hiki i kēia ke lilo i hui pilikino a i ʻole ma ka pūnaewele. ʻO ke kamaʻilio ʻana me nā mākua ʻē aʻe e hiki ke kōkua iā ʻoe e emi iho ka noho mehameha.
• E hoʻomaopopo pono i ke kūlana o kāu keiki, ko lākou mau hōʻailona kūikawā, a me ka holomua o ka maʻi.
• E hoʻokaʻawale i ka manawa nou iho.Hiki iā ʻoe ke mālama pono i kāu keiki inā ʻoe olakino maikaʻi.
• E kiʻi i nā lawelawe kākoʻo e pono ai kāu keiki: e like me ka mālama ola kino ma ka home a me nā lawelawe hoʻoponopono hou.
• E kamaʻilio me kahi loea olakino noʻonoʻo . He manawa paʻakikī loa kēia, no laila mai kānalua e noi i ke kōkua.

He aha ka wā e hiki mai ana o kekahi me ka Leigh Syndrome?

ʻO ka hapa nui o nā keiki me ka maʻi Lee e make i ka hāʻule ʻana o ka hanu i ka piha ʻana o 3 mau makahiki. He mea kākaʻikahi loa ke ola ʻana o kahi keiki me ka maʻi Lee e ola koke ana a hiki i ka wā makua. ʻO ka poʻe i loaʻa i ka maʻi Lee i ka wā makua hiki ke ola a hiki i ko lākou mau makahiki 50.

Hiki ke pale ʻia ka Leigh Syndrome?

Inā he keiki kāu me Lee syndrome, hiki iā ʻoe ke loaʻa i kahi hoʻāʻo genetic e ʻike ai inā loaʻa iā ʻoe a i ʻole kāu hoa ka mutation gene e hoʻoulu ai. Hiki iā ʻoe ke hoʻoholo e hālāwai me kahi kākāʻōlelo genetic e kūkākūkā i nā ala e hōʻemi ai i ka pilikia o nā keiki e hiki mai ana e hoʻoilina i ka mutation.

Āhea ʻoe e ʻike ai i ke kauka?

Inā loaʻa i kāu keiki kekahi o kēia mau hōʻailona, ​​e ʻike koke i ke kauka:

• Ka lohi o ka hoʻomohala ʻana a i ʻole ka nalowale ʻana o nā hiki i loaʻa mua.
• Ka paʻakikī i ka hanu ʻana, ka ʻai ʻana, a i ʻole ke ale ʻana.
• Nā ʻōhūhū.
• Ka lohi o ka ulu kino.

He aha kaʻu e nīnau aku ai i kaʻu kauka?

Hiki iā ʻoe ke nīnau i kāu kauka i nā nīnau penei:

• He aha ke kumu o ka loaʻa ʻana o ka Lee syndrome i kaʻu keiki?
• He aha nā lāʻau lapaʻau e hiki ke kōkua i kaʻu keiki?
• He aha kaʻu e hana ai e kōkua i kaʻu keiki ma ka home?
• Pono anei māua me kaʻu hoa e hana i ka hoʻāʻo genetic?
• Pono anei au e makaʻala i nā hōʻailona o nā pilikia?

ʻO ka mea hope loa, nā mea e hoʻomanaʻo ai (Leka Lawe-Home)

He mea maʻamau ke kaumaha a kaumaha ke ʻike ʻoe he maʻi laha ʻole kāu keiki a hoʻoweliweli i ke ola . Akā e hoʻomanaʻo ʻaʻole ʻoe hoʻokahi. He mea nui e ʻimi i ka lāʻau lapaʻau mai nā kauka i loaʻa ka ʻike loea i kēia maʻi. No ka mea hiki i ka maʻi Lee ke hoʻopilikia i nā ʻāpana like ʻole o ke kino o kāu keiki, me ka lolo, nā maka, ka puʻuwai, a me nā puʻupaʻa, pono paha ʻoe e ʻike i kekahi mau loea like ʻole.

Hiki i kēia mau kauka ke kōkua iā ʻoe e hoʻokele i kāu mau hōʻailona a hoʻopili iā ʻoe me nā lawelawe kākoʻo āu a me kāu pēpē e pono ai. A laila hiki iā ʻoe ke hauʻoli i kou manawa me kāu pēpē e like me ka hiki. He paʻakikī kēia huakaʻi, akā me ke aloha, ke kākoʻo, a me nā ʻōlelo aʻoaʻo lapaʻau kūpono, e loaʻa iā ʻoe ka ikaika e kū i kēia pilikia.

ʻO ka maʻi leigh , ka maʻi mitochondrial, ka maʻi genetic, ke olakino o ke keiki, ka lohi o ka ulu ʻana, ka ʻōnaehana nerve, a pēlā aku