Bophelo, Mafu a le Maemo

Mitochondrial syndrome, ngoana

lefu Mitochondrial, 'me ka ho khetheha mitochondrial lefu, e leng se ka bonahatsa CNS, pelo le mesifa ya marapo tsela e sa tloaelehang, ba e' ngoe ea likarolo tsa bohlokoa ka ho fetisisa neuropaediatrics.

Mitochondria - ke eng?

Ke batho ba bakae hopola tseleng sekolong sa baeloji, sa mitochondrion ke e 'ngoe ea organelles seleng ea bao mosebetsi ka sehloohong ke thuto ka tshebetso ya ho lisele respiration limolek'hule tsa ATP. Ho feta moo, ho na le le hlaha ho kena moea tsa acid tse mafura etsahala tricarboxylic acid e potoloho le dithulaganyo tse ling tse ngata. Lithuto tsa khanna lilemong tsa bo-XX morao, a senola mitochondrial bohlokoa hape le ka dithulaganyo tse kang nahanela ho sebelisa lithethefatsi, ke le seleng senescence, apoptosis (etselitsoe lefu seleng e). Ka lebaka leo, ho tlōla mesebetsi bona isang khaello ea matla le ka lebaka, tšenyo le ho shoa ka seleng. Hlaka ditlolo tsena li etsahala ka lisele tsa tsamaiso ea methapo le mesifa ya marapo.

Mitohondriologiya

lithuto tsa liphatsa tsa lefutso li etsa qeto ea hore mitochondria na liphatsa tsa lefutso tsa bona, e seng liphatsa tsa lefutso tsa khubu seleng, 'me irregularities ka tshebetsong lona e hangata ka ho fetisisa e amanang le liphetoho tse bang teng li etsahala teng. All ena e lumelloa ho abelwang karolo ya ea tšimo saense hore o ithuta le lefu lena le amahanngoa le ho se sebetse ea mitochondria - mitochondrial tsitopatii. Ba e ka ba ka seoelo kapa congenital, futsitseng lehlakoreng 'm' ae.

symptomatology

Mitochondrial Syndrome ka bonahala tsamaiso ea tse fapa-fapaneng tsa botho, empa liponahatso fetisisa tšoauoa lokisetsa matšoao a methapo ea kutlo. Sena ke ka ntlha ya go ha e le hantle hore sa dinama tse nyenyane tse ea methapo ho fetisisa ka matla haholo, amehang ka hypoxia. makgetheng bath lumella belaelago lethopa mitochondrial lefu ka mesifa ya marapo a hypotonia, ho hloleha ho lekaneng mamella Mokhathala 'meleng, tse fapa-fapaneng myopathy oftalmoparez (shoele litho tsa mesifa le leihlo), ptosis. From tsamaiso ea methapo e ka 'na setorouku-liponahatso, sethoathoa, pyramidal ho hloka taolo, le bokuli bo itseng ba kelello. Ka tloaelo ho, mitochondrial lefu ka ngoana e e kamehla bonahatsa ntshetsopele lieha kapa tahlehelo ya bokgoni ba se fumaneng, psychomotor kholofalo. Ho tsamaiso endocrine ho ka etsahala ho hōla ha lefu la tsoekere, lefu la ea thyroid tsoelesa e le manyeme, khōlo ea kholofalo, kena bonneng kapa bosaling. diso cardiac ka ntshetsa pele khahlanong le semelo sa pathologies litho tse ling, 'me ho itšehla thajana. Mitochondrial syndrome, tabeng ena e bontša cardiomyopathy.

tlhathoba

lefu Mitochondrial e hangata ka ho fetisisa a fumanoa ka nako neonatal kapa ka lilemo tse ea pele ea bophelo ba ngoana joang. Ho ea ka lithuto tsa linaheng tse ling, bolwetse ena e fumanoa ka ho e sa tsoa tsoaloa ba le 5000. Bakeng sa fumanoe ho phehella e akaretsang ea tleleniki, liphatsa tsa lefutso, karaoke, skeletal le limolek'hule liteko. Ho fihlela joale, ho na le palo ya mekhoa ea ho hlwaya bolwetse ena.

Electromyography - ba le liphello tse tlwaelehileng ka semelo sa phatlalatsoe bofokoli mesifa, mokuli re lumella hore re belaella mitochondrial malwetse.
Lactic acidosis hangata e tsamaea le lefu mitochondrial. Ya e le hantle, feela ho ba teng ha sona ke lekana bakeng sa fumanoe, empa tekanyo ea asiti lactic ka mali ka mor'a ho ikoetlisa e ka ba rutang haholo.
Biopsies tsa mesifa ya marapo le ho ithuta histochemical fumana biopsy ke rutang ho fetisisa.
litholoana tse molemo bontša tšebeliso tsoa hong ea leseli le elektrone microscopy tsa mesifa ya marapo.

Mitochondrial magazine (Leigh lefu)

E mong oa mafu a ka ho fetisisa khafetsa bongoaneng amanang le alterations liphatsa tsa lefutso tsa mitochondria ke Leigh lefu, pele o ile a hlalosa ka 1951. Matšoao pele hlaha pakeng tsa lilemo tse lilemo tse 'ngoe ho tse tharo, empa ho ka ba le e' ngoe pejana ponahalo - khoeli ea pele ea bophelo, kapa, ho fapana le hoo, ka mor'a lilemo tse supileng. The liponahatso pele ke ho lieha ntshetsopele, fokotseha ka boima ba 'mele, ho lahleheloa ke takatso ea lijo, ho hlatsa retransmission. Ha nako e ntse, o kopanela tlōlong matšoao a methapo ea kutlo - tlōlo ea mesifa molumo (hypotonia, dystonia, hypertonia), tsitsipana, tahlehelo ea tšebelisano.

Lefu lena le ama litho tsa ka hare ea pono: ntseng li hōla moruong felloa ke matla tsa methapo ea kutlo optic, retina degeneration, maloetse leihlo sisinyehang. Ka bana ba bangata ba le lefu lena butle setsi, lipontšo e eketsehang ea mafu a pyramidal hlahella mafu a engole, mosebetsi matšoafo.

E mong oa bana ba ka ba nang le bolwetse ena, e ile ea Pugachev Yefim, mitochondrial lefu, e ileng ea fumanoa ka 2014. 'mè oa hae, Helen, a kōpa thuso ho batho bohle ba amehang.