Mitochondrial syndrome tus me nyuam

Mitochondrial kab mob, thiab nyob rau hauv particular mitochondrial syndrome, uas yuav manifest Cns, lub plawv thiab skeletal leeg txawv txav, yog ib tug ntawm cov tseem ceeb tshaj plaws qhov chaw ntawm neuropaediatrics.

Mitochondria - yog dab tsi?

Yuav ua li cas muaj coob tus neeg nco ntsoov los ntawm lub tsev kawm ntawv chav kawm ntawm biology, ib tug mitochondrion yog ib tug ntawm cov cell organelles uas nws lub ntsiab muaj nuj nqi yog kev kawm ntawv nyob rau hauv tus txheej txheem ntawm cellular pa molecules ntawm ATP. Tsis tas li ntawd, muaj tshwm sim oxidation ntawm fatty acids yuav siv sij hawm qhov chaw tricarboxylic acid voj voog thiab ntau lwm yam dab. Kev tshawb fawb ua nyob rau hauv lub lig XX xyoo pua, qhia qhov tseem ceeb heev mitochondrial kuj nyob rau hauv cov txheej txheem xws li rhiab heev rau cov tshuaj, cell senescence, kev puas ntsoog (programmed cell tuag). Raws li, qhov ua txhaum ntawm lawv zog ua rau ib tug tsis muaj peev xwm ntawm lub zog, thiab raws li ib tug tshwm sim, kev puas tsuaj thiab cell tuag. Qab ntsoov cov kev ua txhaum tshwm sim nyob rau hauv lub hlwb ntawm poob siab system thiab skeletal leeg.

Mitohondriologiya

Caj kev tshawb fawb tau txiav txim hais tias mitochondria muaj lawv tus kheej genome, lwm yam tshaj li lub genome ntawm lub cell nucleus, thiab irregularities nyob rau hauv nws cov hauj lwm yog feem ntau txuam nrog change tshwm sim muaj. Tag nrho cov no tau tso cai faib scientific teb uas kawm tus kab mob txuam nrog kawg ntawm mitochondria - mitochondrial tsitopatii. Lawv yuav tsum yog thawm los yog congenital, pub rau nws niam lub sab.

symptomatology

Mitochondrial Syndrome yuav manifested nyob rau hauv ntau yam tib neeg systems, tiam sis feem ntau cim ces npaj neurological cov tsos mob. Qhov no yog vim lub fact tias lub paj hlwb cov ntaub so ntswg feem ntau loj cuam tshuam los ntawm hypoxia. Yam ntxwv nta uas phem lesion mitochondrial syndrome nyob rau hauv lub skeletal nqaij yog hypotonia, tsis ua hauj lwm rau ntau ntxeem lub cev puas rau siab, ntau yam myopathy oftalmoparez (tuag tes tuag taw ntawm lub qhov muag nqaij), ptosis. Los ntawm lub paj hlwb yuav tsum stroke-ces, qaug dab peg, pyramidal tsis meej, ib tug puas siab puas ntsws tsis meej. Feem ntau, mitochondrial syndrome nyob rau hauv ib tug me nyuam yog ib txwm manifested kev loj hlob qeeb los yog poob ntawm twb nrhiav kev txawj ntse, psychomotor puas. Los ntawm endocrine system yog nws ua tau txoj kev loj hlob ntawm cov ntshav qab zib, mob ntawm lub qog caj pas thiab txiav, kev loj hlob ruamqauj, tiav nkauj tiav nraug. mob txhab yuav tsim tiv thaiv lub keeb kwm ntawm pathologies ntawm lwm yam kabmob, thiab kev rho tawm. Mitochondrial syndrome nyob rau hauv cov ntaub ntawv no yog qhia cardiomyopathy.

diagnostics

Mitochondrial kab mob yog feem ntau pom nyob rau hauv lub neonatal lub sij hawm los yog nyob rau hauv thawj xyoo ntawm ib tug me nyuam lub neej. Raws li rau txawv teb chaws cov kev tshawb fawb, no pathology thiaj paub tias yog nyob rau hauv ib tug me nyuam mos ntawm 5000. Rau cov mob ntawm nrhiav ib tug kev soj ntsuam, kev tshuaj ntsuam genetic, instrumental, biochemical thiab molecular kev ntsuam xyuas. Rau hnub tim, muaj ib tug xov tooj ntawm txoj kev mus rau qhia no pathology.

1. Electromyography - nrog rau tej kev tshwm sim nyob rau hauv ib tug tom qab ntawm pronounced leeg tsis muaj zog, tus neeg mob tso cai rau peb kom peb xav tias mitochondrial pathology.
2. Lactic acidosis feem ntau nrog mitochondrial kab mob. Ntawm cov hoob kawm, tsuas nws muaj yog tsis txaus rau mob, tab sis cov kev ntsuas ntawm lactic acid nyob rau hauv cov ntshav tom qab qoj ib ce yuav ua tau xwm heev.
3. Biopsies ntawm skeletal leeg thiab histochemical txoj kev tshawb no tau me yog lub feem ntau tuav.
4. Zoo tau qhia lub simultaneous siv ntawm lub teeb thiab electron microscopy ntawm lub skeletal leeg.

Mitochondrial encephalopathy (Leigh syndrome)

Ib tug ntawm cov feem ntau heev thaum yau kab mob txuam nrog kev tshuaj ntsuam genetic alterations ntawm mitochondria yog Leigh kab mob, thawj piav nyob rau hauv 1951. Tus thawj cov tsos mob tshwm sim ntawm cov muaj hnub nyoog ntawm ib mus rau peb lub xyoo, tab sis tej zaum yuav muaj ib tug ua ntej lawm manifestation - thawj lub hli ntawm lub neej, los yog, nyob rau hauv tsis tooj, tom qab xya xyoo. Tus thawj ces yog ncua txoj kev loj hlob, txo nyob rau hauv lub cev hnyav, tsis qab los noj mov, ntuav retransmission. Thaum lub sij hawm, koom neurological cov tsos mob - ib tug ua txhaum ntawm nqaij laus (hypotonia, dystonia, hypertonia), convulsions, tsis sib haum.

Tus kab mob muaj feem xyuam rau cov hauv nruab nrog cev uas tsis pom kev: tsim Atrophy ntawm lub optic paj, retinal degeneration, qhov muag zog ntshawv siab. Nyob rau hauv feem ntau cov me nyuam tus kab mob maj mam loj zuj zus, lub loj hlob tej yam tshwm sim ntawm pyramidal mob tshwm sim nqos mob, ua pa muaj nuj nqi.

Ib tug ntawm cov me nyuam txom nyem los ntawm no pathology, los ua Pugachev Yefim, mitochondrial syndrome, uas twb paub hais tias nyob rau hauv 2014. Nws niam, Helen, nug kev pab los ntawm tag nrho cov kev txhawj xeeb cov neeg.

Mitochondrial syndrome tus me nyuam

Forecast, hmoov tsis, feem ntau disappointing rau hnub tim. Qhov no yog vim lig mob ntawm tus kab mob no, cov tsis muaj ntaub ntawv xov xwm nyob rau hauv lub pathogenesis, lub dire lub xeev ntawm cov neeg mob uas txuam nrog multisystem kev koom tes, thiab nrog rau cov uas tsis muaj ib zaug xwb kauj nrug muaj feem luj cov hauj lwm zoo ntawm txoj kev kho.

Yog li, kev kho mob ntawm cov kab mob xws yog tseem nyob rau hauv txoj kev loj hlob theem. Raws li ib tug txoj cai, nws yog txo mus rau symptomatic thiab txhawb txoj kev kho.