Mitochondrial urwere mwana

Mitochondrial chirwere, uye zvikurukuru mitochondrial urwere, izvo zvinogona kuratidza CNS, mwoyo uye skeletal tsandanyama abnormalities, tiri chimwe chezvinhu zvinokosha kumativi neuropaediatrics.

Mitochondria - chii?

Vanhu vangani kuyeuka nzira zvipenyu chikoro, mumwe mitochondrion mumwe muchitokisi organelles vane basa chikuru ndiyo dzidzo iri nedanho cellular afemeruke mamorekuru pakati ATP. Uyezve, pane rinowanika oxidation kuti mafuta acids kunoitika tricarboxylic iine acid kutenderera nemamwe maitiro zhinji. Studies ichiitwa mukupera XX remakore, akazivisa kunokosha mitochondrial asiwo pezvakaitwa akadai aikanganiswa zvinodhaka, sero senescence, apoptosis (nemasero anotsiva anenge afa). Saizvozvowo, mitemo mabasa avo kunoita kuti kushayikwa simba, uye somugumisiro, kukuvara uye masero rufu. Kunyatsoyeuka kutyorwa izvi zvichiitika munguva mumasero tsinga uye skeletal tsandanyama.

Mitohondriologiya

Zvidzidzo Genetic vangosarudza kuti mitochondria vane genome yavo, kunze genome sero musimboti, uye hadzina kufambiswa zvakanaka zvayo inoshanda kakawanda chokuita kunotouraya kuitika ipapo. Izvi zvose akabvumira kuti govera munda nesayenzi kuti vanodzidza chirwere chokuita dysfunction pamusoro mitochondria - mitochondrial tsitopatii. Vanogona kunge nguva dziri kure kana vachiberekwa, nhaka yake ramai divi.

symptomatology

Mitochondrial Syndrome kungaratidzwa siyana kwevanhu hurongwa, asi zvikuru wakatarwa kuratidzwa vagadzirira chetsinga zviratidzo. Izvi imhaka yokuti huta zvinyama zvakanyanya kukanganiswa hypoxia. Mamirire zvinhu kubvumira fungira lesion mitochondrial chirwere ari skeletal tsandanyama vari hypotonia, kukundikana zvakakwana kutsungirira mumuviri nesimba, siyana myopathy oftalmoparez (kuoma ziso tsandanyama), ptosis. Kubva tsinga kungava mbonje-kuratidzwa, nezvipusha, pyramidal wenyonganyonga, chirwere chepfungwa. Kazhinji, mitochondrial chirwere ari mwana anogara richiratidzwa kunonoka kukura kana kurasikirwa kare vawana unyanzvi, psychomotor vanotaura. Kubva kwemakemikari anobudiswa hurongwa zvinokwanisika kukura cheshuga, zvirwere zviri thyroid shwanu uye rwatata, kukura retardation, kuyaruka. cardiac maronda zvingamuka tikafunga pathologies vamwe nhengo, uye voga. Mitochondrial chirwere ichi nyaya kunoratidzwa cardiomyopathy.

Diagnostics

Mitochondrial chirwere kakawanda kuwanikwa iri neonatal nguva kana mumakore okutanga oupenyu hwemwana. Maererano zvidzidzo dzokumwe, zvokurwara ichi kunokwanisa kuonekwa mune rusvava pane 5000. Nokuti nechirwere kutevera misoro kurapwa, kuvabereki, richishanda, nemakemikari uye samolecular miedzo. To musi, pane vakawanda nzira kuziva zvokurwara ichi.

1. Electromyography - kwomuzvarirwo nemigumisiro pamusoro yaitwa raidudzwa tsandanyama simba, murwere anotibvumira vazondifungira mitochondrial zvokurwara.
2. Lactic acidosis chinowanzoguma mitochondrial chirwere. Chokwadi, chete zvayo kuvapo haina kukwana kuti chirwere, asi nokuyerwa lactic asidhi muropa mushure muviri kunogona kuva nemashoko chaizvo.
3. Biopsies ose skeletal tsandanyama uye histochemical kudzidza akawana biopsy ndiyo anodzidzisa.
4. Migumisiro yakanaka kuratidza mawa kushandiswa chiedza uye Erekitironi microscopy pamusoro skeletal netsandanyama.

Mitochondrial encephalopathy (Leigh urwere)

Chimwe chezvinhu kakawanda zvirwere pauduku chokuita nemagene alterations ose mitochondria ndiye Leigh chirwere, kutanga kurondedzerwa muna 1951. Zviratidzo zvokutanga kuoneka pakati pemakore kuti matatu, asi panogona kuva kwokutanga kuratidzwa - mwedzi upenyu wokutanga, kana, nekusiyana, pashure makore manomwe. The kuratidzwa yokutanga kunonoka kukura, kuderera kurema muviri, kurasikirwa kudya, kurutsa retransmission. Nokufamba kwenguva, anobatana chetsinga zviratidzo - kutyorwa chetsandanyama matauriro (hypotonia, dystonia, hypertonia), kugwinha, kurasikirwa Kufambisa.

The chirwere kunokanganisa nhengo zvaakaratidzwa: kutanga atrophy of optic etsinga, retinal degeneration, ziso kufamba zvirwere. In vana vakawanda chirwere zvishoma nezvishoma mberi, kuwedzera zviratidzo pyramidal zvirwere kuonekwa zvinetso pakuparadza, kufema ushande.

Mumwe vana kutambura kubva zvokurwara ichi, vakava Pugachev Yefim, mitochondrial urwere, izvo akaonekwa muna 2014. mai vake, Helen, anokumbira kubatsirwa zvose hanya vanhu.

Mitochondrial urwere mwana

Forecast, zvinosuruvarisa kazhinji kugumbura zvevakomana. Izvi imhaka kunonoka chirwere kwechirwere chacho, kushaya kwemashoko akazara pamusoro pathogenesis, mashoko chokunyevera mamiriro varwere chokuita multisystem zvechidhimoni, uye pamwe kushaya rimwe yokuona nayo dzinoongorora kubudirira mishonga.

Saka, mabatiro zvirwere zvakadai iri kukura pachikuva achiri. Kazhinji, izvozvo ipfupi kuti symptomatic uye kutsigira kurapa.