Hauora, Diseases me ngā Here

Tamaiti syndrome punaraungao

mate punaraungao, a i roto i ngā syndrome punaraungao, e taea whakaatu CNS, ngakau, me te uaua kōhiwi abnormalities, e tetahi o nga wahi tino nui o neuropaediatrics.

Pungaraungao - he aha te mea te reira?

Kia pehea te mahara maha iwi i te akoranga kura o te koiora, te pata pūngao ko tetahi o nga organelles pūtau nei matua mahi he mātauranga i roto i te tukanga o te respiration pūkoro rāpoi o ATP. I tua atu, i reira puta hāora o waikawa ngakongako e wahi huringa waikawa tricarboxylic me maha atu tukanga. Akoranga whakahaere i roto i te mutunga o te rau tau XX, whakakitea te punaraungao hoki hira i roto i ngā tukanga, pērā i te tūtohutanga ki taero, senescence pūtau, apoptosis (mate pūtau programmed). Nä, ko te takahi o ratou mahi arata'i ki te hē o te pūngao, ka rite ki te hua, kino me te mate pūtau. Mahino enei maumaui puta i roto i te pūtau o te pūnaha io me uaua kōhiwi.

Mitohondriologiya

Kua takoto rangahau ira e pungaraungao i to ratou ake genome, atu atu i te genome o te karihi pūtau, me kōtītiti i roto i tona mahi e te nuinga o maha e pā ana ki irakētanga puta i reira. Kua whakaaetia tenei katoa ki te tohatoha mara pūtaiao e tuatapapa i te mate e pā ana ki pōrearea o pungaraungao - tsitopatii punaraungao. Ka taea e kia ratou rānei katea ranei congenital, riro i te taha o tona whaea.

tohutanga

Punaraungao Syndrome taea te whakakitea i roto i ngā pūnaha tangata, engari rite nga mau faaiteraa tino tohua tohu neurological. Ko e tika ana ki te meka i te kiko io tino nui pāngia e te hypoxia tenei. āhuatanga āhuatanga tuku lesion parenga syndrome punaraungao i roto i te uaua kōhiwi he hypotonia, kore ki āta mau kohakoha tinana, ngā oftalmoparez myopathy (pāpāngia o nga uaua kanohi), ptosis. Mai i te pūnaha io kia patu-mau faaiteraa, hukihuki, whakararuraru pyramidal, he mate hinengaro. Tikanga, syndrome punaraungao i roto i te tamaiti e whakakitea tonu he takaware whanaketanga ranei mate o ngā pūkenga riro kē, whakamātau tinana waimaerotanga. Mai i te pūnaha endocrine ko reira taea te whanaketanga o te mate huka, disorders o te repe thyroid me te taiaki, tupu retardation, pūhuruhurutanga. kia whakawhanake pāpaka cardiac ki te papamuri o pathologies o te tahi atu whekau, me te wehe. whakaaturia syndrome punaraungao i roto i tenei take e cardiomyopathy.

tātaringa

Kei te tino maha kitea mate punaraungao i roto i te wā fā'ele'i ranei i roto i nga tau tuatahi o te ora o te tamaiti. E ai ki ngā rangahau ke, tenei māuiuitanga pāngia te i roto i te whanau hou o 5000. Hoki te tātaritanga o te whai i te whakamātautau haumanu, ira, mauhaa, matüora me rāpoi whānui. Ki te rā, i reira e he maha o ngā tikanga ki te tautuhi i tēnei māuiuitanga.

Electromyography - ki hua noa i runga i te whakamārama o te ngoikore uaua korerotia, ka taea te manawanui ki a tatou whakapae māuiuitanga punaraungao.
maha haere tahi acidosis lactic mate punaraungao. O te akoranga, anake he iti hoki tātaritanga tona aroaro, ko te inenga o te waikawa lactic i roto i te toto i muri i mahi e taea e tino mōhiohio.
Biopsies o te uaua kōhiwi whiwhi me te ako histochemical ko te kōrero tino unuhanga.
whakaatu hua pai te whakamahi tukutahi o te marama, me te irahiko Microscopy o nga uaua kōhiwi.

Punaraungao encephalopathy (Leigh syndrome)

Ko tētahi o nga mate tamarikitanga tino auau e pā ana ki whakarereke ira o te pungaraungao he mate Leigh, tuatahi whakaahuatia i roto i te tau 1951. puta nga tohu tuatahi i waenganui i te tau o tetahi ki te e toru nga tau, engari i reira kia kia he faaiteraa mua - te marama tuatahi o te ora, ranei, i runga i te anga ke, i muri i whitu nga tau. Ko te mau faaiteraa tuatahi e ki whakaroa te whanaketanga, iti i roto i te taimaha tinana, mate o hiahia, ruaki retransmission. Neke atu i te wa, hono tohu neurological - he takahi o uaua oro (hypotonia, dystonia, hypertonia), haehae, mate o ruruku.

pānga te mate nga whekau o whakakitenga: whakawhanake atrophy o te faatae te, e hōloa tuaroa, disorders kaupapa kanohi. I roto i te nuinga o ngā tamariki āta kauneke te mate, te tohu tipu o disorders pyramidal puta horomia disorders, mahi romahā.

Ko tētahi o nga tamariki e mate ana i tenei māuiuitanga, ka Pugachev Yefim, syndrome punaraungao, i pāngia i te 2014. Tona whaea, Helen, ui i te tauturu i te iwi āwangawanga katoa.