Ilmaha syndrome Mitochondrial

cudurka Mitochondrial, iyo gaar ahaan syndrome mitochondrial, taas oo muujin kara habdhiska, cilladaha wadnaha iyo muruqa lafaha, waa mid ka mid ah qaybaha ugu muhiimsan ee neuropaediatrics.

Mitochondria - waa maxay?

Sida ay dadka badan ka Dabcan dugsiga ee biology xusuusan, mitochondrion ah waa mid ka mid ah organelles cell Hawsha ugu weyn waa waxbarasho ee geedi socodka ka mid ah Neefta gacanta u taagoo of ATP. Intaas waxaa sii dheer, waxaa dhacdaa qayilo ee acids dufan qaadataa meel wareegga acid tricarboxylic iyo geedi socodka kale oo badan. Studies sameeyay goor dambe oo qarnigii XX, ayaa shaaca ka qaaday mitochondrial muhiim ah sidoo kale in la marayo sida dareen in ay daroogada, senescence cell, apoptosis (barnaamijkii dhimashada unugyada). Iyadoo la raacayo, xadgudub ku ah hawlaha ay keenaysaa in deficiency ah ee tamarta, iyo sida natiijada, dhaawac iyo dhimashada unugyada. Gaalda xadgudubyo ka dhacaan unugyada habka dareemayaasha jirka iyo murqaha lafaha.

Mitohondriologiya

waxbarashada hidaha ayaa go'aamisay in mitochondria leeyihiin hiddawadayaasha u gaar ah, aan ka ahayn hiddawadayaasha ee bu'da unugga, iyo wax isdaba marin ku ay ku shaqaynayaan waxaa inta badan la xidhiidha Isbedelo halkaas ka dhaca. Waxaas oo dhan waxa uu u ogolaaday in loo qoondeeyo beerta sayniska in daraasaad cudur la xiriira cillad ah mitochondria - tsitopatii mitochondrial. Waxay noqon karaan mid ka mid goos goos ah ama lagu dhasho, dhaxlay dhinaca hooyadiis.

symptomatology

Mitochondrial Syndrome muuqan karaa nidaamyada aadanaha kala duwan, laakiin daliilka ugu calaamadsan diyaariyey calaamadaha dareemayaasha. Tan waxa u sabab xaqiiqada ah in unugyada neerfaha sida ugu xun u saameeyeen hypoxia. Tilmaamo sifo jidaynayey nabar tuhunsan syndrome mitochondrial in murqaha lafaha waa summer, ku fashilmeen in ay si ku filan u adkaysan dhibta jidhka, oftalmoparez myopathy kala duwan (curyaannimo murqaha isha), ptosis. Laga soo bilaabo habka dareemayaasha waxaa laga yaabaa in stroke-daliilka, qallal, cudur pyramidal, jirro maskaxeed. Sida caadiga ah, syndrome mitochondrial in ilmo yar waxaa had iyo jeer u muuqday dhac koritaan ama luminta xirfadaha hore u heleen, dhantaalan psychomotor. Laga soo bilaabo nidaam hormoonada jidhka waxaa suurto gal ah horumarinta diabetes, cudurada qanjirka thyroid iyo xammeetida, dhimaal koritaanka, baaluq. lesions wadnaha laga yaabaa in dhanka ah asalka ah oo heley ee xubnaha kale, iyo go'doon. syndrome Mitochondrial kiiskan waxa muujiyay cardiomyopathy.

Baadhista xanuunada

cudurka Mitochondrial waxaa inta badan laga helaa muddada u dhalatey ama in ka sano ee hore ee nolosha ilmaha. Sida laga soo xigtay waxbarashada shisheeye, cudurada this waxaa lagu gartaa in dhasha ah ee 5000. Si xanuunkan ee ku raad ah baaritaano caafimaad oo, hidaha, qalabka, lagmamaarmaanna u ah iyo kelli dhamaystiran. Si aad u taariikhda, waxaa jira tiro ka mid ah siyaabaha lagu garto cudurada this.

1. Electromyography - natiijooyinka caadiga ah ku saabsan asalka ah tabar-dari muruq fahmayaan, bukaanka oo noo ogolaadaa in ka shakisan tahay cudurada mitochondrial.
2. aysiidh jėrto inta badan la socda cudurka mitochondrial. Dabcan, oo kaliya ay joogaan waa ku filan, waayo, cudurka, laakiin cabbirka of melkesyrebakterier in dhiig ka dib jimicsiga noqon karaa mid aad wargelin ah.
3. Jarista qaybta of murqaha lafaha iyo waxbarasho histochemical helay biopsy waa ugu wargelin ah.
4. natiijo fiican muujiyaan isticmaalka isku mar iftiinka iyo microscopy electron oo ka mid ah murqaha lafaha.

encephalopathy Mitochondrial (Leigh syndrome)

Mid ka mid ah cudurada caruurta ugu badan ee la xidhiidha isbedel hidaha ee mitochondria waa cudur Leigh, marka hore ku tilmaamay in 1951. Calaamadaha ugu horeeya muuqan da'doodu u hal ilaa saddex sano, laakiin waxaa laga yaabaa in ay ka muuqan hore - bishii kowaad ee nolosha, ama, on lid ku ah, ka dib markii toddoba sannadood. The daliilka ugu horeeya waa in ay dib u dhigto horumarinta, miisaanka jidhka oo yaraada, rabitaanka cuntada oo luma, matag retransmission. Waqti ka, oo ku biiray calaamadaha dareemayaasha - xadgudub ku ah cabirida xaalada muruqa (summer, dystonia, hypertonia), qalal, luminta isuduwidda.

Cudurku waxa uu saameeyaa xubnaha muujinta: koraya atrophy ee dareemayaasha optic ah, xumaanshaha isha, xanuunada dhaqdhaqaaqa isha. In carruurta ugu cudurka si tartiib ah, calaamadaha sii kordhaysa ee xanuunada pyramidal muuqan xanuunada liqidda, shaqo-mareenka.

Mid ka mid ah carruurta ka cabanaya cudurada this, wuxuu noqday Pugachev Yefim, syndrome mitochondrial, kaas oo lagu ogaadaa in 2014. Oo hooyadiis, Helen, weydiisto kaalmo ka dhan dadka ka walaacsan.

ilmaha syndrome Mitochondrial

Saadaasha, nasiib darro, inta badan niyad taariikhda. Tan waxa u sabab cudurka dabayaaqadii cudurka, helid la'aanta macluumaad faahfaahsan oo ku saabsan pathogenesis ah, gobolka ba'an bukaannada la xiriira ku lug multisystem, iyo la'aanta ah ee Faraj hal lagu qiimeeyo waxtarka therapy.

Sidaas darteed, daaweynta cudurrada sida uu weli ku jiro marxaladda horumarinta. Sida caadiga ah, waxaa la hoos u dhigay therapy astaamaha iyo taageero.