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Mitochondrial maʻi pale keiki

Mitochondrial mai, a ma ka hana mitochondrial maʻi pale, i hiki hoike CNS, naau, a skeletal Muscle abnormalities, i kekahi o na mea nui loa o neuropaediatrics.

Mitochondria - He aha ka mea?

Ehia na kanaka e hoomanao ai, mai ke kula ala o ka kālaimeaola, he mitochondrion o kekahi o ka halepaahao organelles nona ka papa kuhikuhiE kuleana pili i ka hoʻonaʻauao 'ana i loko o ke kaʻina hana o ke kelepona hele ka hanu nā nā lātoma o ATP. Eia kekahi, ma laila ia lŘlŘ'okesaside o momoma nāʻakika i wahi tricarboxylicʻakika kalapona a me na mea he nui 'ē aʻe keʻano o ka hanaʻana. Haʻawina mālama 'ia ma ka hopena o XX kenekulia, hōʻike i nāʻano nui mitochondrial i loko o keʻano o ka hanaʻana e like me pā lonoaʻili i ka ai', ke kelepona hele senescence, apoptosis (hanaʻia aeea make). Alaila, i ke kue o ko lākou mau oihana hiki aku ai i ka deficiency o ka ikehu, a me ka hopena, poino a me ka aeea make. Vividly kēia mau 'aʻe' ana i loko o na keena o ka'emi'ōnaehana a me skeletal nāʻiʻo.

Mitohondriologiya

Ua hoʻoholo aaiaoe haʻawina i mitochondria i kā lākou mau genome, 'ē aʻe ma mua o ka genome o ka halepaahao nucleus, a me ka hahaki pinepine i loko o kona functioning ua loa pinepine pili me mutations' ia i laila. A pau keia i 'ae' ia līkaia scientific kahua e Pilikanaka ka maʻi pili i dysfunction o ka mitochondria - mitochondrial tsitopatii. Ka mea hiki e kekahi sporadic paha congenital, ili ma kaʻaoʻao o kona makuwahine.

symptomatology

Mitochondrial maʻi pale hiki ke hoikeia ma kela kanaka nenoai, akā, i ka loa ia hoikeana hoomakaukau neurological symptoms. O ke kumu ho i ka mea i ka'emi'aʻaʻa loa na'lii loli ana i hypoxia. Ano hiʻona i hiki manaʻo pü 'lesion mitochondrial maʻi pale i loko o ka skeletal nāʻiʻo i hypotonia, hoʻokō' ole 'ana i ponoʻole hoomanawanui physical exertion, kela myopathy oftalmoparez (lōlō o ka maka nāʻiʻo), ptosis. Mai ka ua'emi'ōnaehana i e hahau-hoikeana, ke kāʻili 'ana, pyramidal kāna hana, i ka noʻonoʻo kāna hana. Nō kāu, mitochondrial maʻi pale i loko o ke keiki ua mau hoike developmental kali a me ka lilo ana o ua loaa ia nā mākau, psychomotor hoʻopilikia. Mai endocrine nenoaiu ia mea hiki i ka hooulu ana o ka mimikō, kāna hana o ka thyroid gland a me pancreas, ulu retardation, puberty. cardiac lesions i hoʻomōhala e ku e ia i ke kāʻei kua o pathologies o nā nā loko, a me ka hoʻokaʻawale. Mitochondrial maʻi pale ma keia hihia ua hōʻike cardiomyopathy.

lapaʻau '

Mitochondrial maʻi ua loa pinepine i loaʻa i loko o ka neonatal manawa paha i loko o nā makahiki mua o ke keiki ka ola. E like me ia i na haʻawina, keia pathology ua diagnosed i loko o ke keiki o ka 5000. No ka meaʻike, a alualu i ka hulina lapaʻau, aaiaoe, vocal, biochemical a me ka hakakino ho'āʻo ma. I ka lā, loaʻa nō i ka helu o ke ki ina hana like, e kuhikuhi i keia pathology.

Electromyography - me ka maʻamau i nā hualoaʻa ma ka kāʻei kua o haʻi Muscle nawaliwali, i ka hoʻomanawanui e leie aku iā mākou i ka manao mitochondrial pathology.
Lactic acidosis pinepine accompanies mitochondrial maʻi. O ka holo ana, wale kona alo mea lawa ole no kaʻike,, akā, i ke ana ana o lacticʻakika i loko o ke koko ma hope o hoʻokō 'hiki e loa informative.
Biopsies o skeletal Muscle a me histochemical study loaa biopsy o ka loa informative.
Good hualoaʻa hōʻike i ka i ka wā hoʻokahi pono ana o ka malamalama, a me ka huina'ine microscopy o ka skeletal nāʻiʻo.

Mitochondrial encephalopathy (Leigh maʻi pale)

Kekahi o ka loa pinepine wā kamaliʻi mai pili me aaiaoe hoololi o ka mitochondria o Leigh maʻi, ho'ākāka 'ia ma mua i loko o 1951. Ka mua symptoms ikeia ma waena o nā makahiki o kekahi i ekolu makahiki, akā, ma laila i e ka mua hoike ana - i ka malama mua o ke ola, a, ma ka mea ku ole, ma hope o ehiku makahiki. Ka mua hoikeana mea e holo koke 'ana, ke emi ma ke kino paona, lilo o ka ikaika loa ka makemake, ka luaʻi retransmission. Over manawa, pili ana i neurological symptoms - he 'aʻe' ana o Muscle leo (hypotonia, dystonia, hypertonia), convulsions, poho o ka ōhumu.

I ka maʻi e loli ai na nā loko o ka hihio: ulu atrophy o ka optic nā aʻalolo, retinal degeneration, maka ana kāna hana. Ma ka hapanui o na keiki i ka maʻi mālie progresses, i ka ulu hoailona o pyramidal kāna hana hou moni 'ia kāna hana, naehana kuleana pili i.

Kekahi o na keiki e loaa ana mai o keia pathology, lilo Pugachev Yefim, mitochondrial maʻi pale, i i diagnosed i ka 2014. Kona makuwahine, Helen, noi mai no ka kōkua mai nā mea a pau, ae hoʻomaopopoʻia kanaka.