Chii Kearns-Sayre Syndrome?

Zvinozivikanwa kuti vakawanda vachiberekwa abnormalities yakawanikwa pamwe pokumuka genetics. chromosomal kuchinja kunogona kukonzera zvakasiyana siyana abnormalities. Vamwe vavo vane zvinoonekwa pakarepo pashure pokuberekwa, nepo vamwe vanoratidza pachavo vari vaduku kana vakuru. Kearns-Sayre chirwere inoreva zvokurwara pamusoro mitochondrial DNA. Chine 3 chiratidzo, ukama pakati pavo akanga asina yakawanikwa kusvikira pakuguma remakore rechi20. Mitochondrial chirwere - boka guru nemagene abnormalities, akarara muna utero uye kuburikidza mwana nema mutsetse. Izvi mhando abnormality yakawanikwa anoonga chitange genetics.

Kearns-Sayre urwere: tsananguro

Disease mitochondrial DNA chinorehwa kusagadzikana zvinyama afemeruke, riri kuitwa panguva nokukanganisika pamwero. Somugumisiro, zviratidzo pathologies izvi zvinogona kuva akasiyana. Kearns-Sayre chirwere rinoreva boka mitochondrial zvirwere, iyo inosanganisira deletion okutodza. Wakatanga kurondedzerwa muna 1958. Nepo musayendisiti Cairns kwakaita 9 chete mienzaniso chirwere. The chikuru zviratidzo chirwere ichi - kunoramba ophthalmoplegia, retinopathy uye intracardiac blockade. The chirwere kunoitika pamwe maitikiro vakaenzana vakomana nevasikana. Asi vatakuri dzaparadzwa okutodza kunogona chete kuva mukadzi. zvokurwara Izvi zvinoreva zvisingawanzoitiki chaizvo anomaly, Pari hwakanyorwa anenge 200 nyaya yose.

Zvikonzero chirwere Kearns-Sayre

Sezvazviri mitochondrial zvirwere zvose, kuti chirwere anodzidzwa kudaro kare. Naizvozvo, chaiwo zvinokonzera ayo budiriro asingazikamwi. Zvinonzi vaidavira kuti anomaly achiumbwa munyika trimester pamuviri rokutanga kana paine twa nyama uye majini zvinhu nhaka kubva kuvabereki. The chirwere kunobva deletion pamusoro chromosome, i.e. kurasikirwa rayo chikamu DNA beach. Uyezve, vamwe varwere vane kuburitsa mufananidzo (doubling) D-loop. Data vatakuri masero alterations kungava chete vakadzi. Izvi imhaka yokuti mitochondrial cheni, pane chete chikamu mazai. Kunyange zvakadaro, hazvibviri kuziva chii kunokonzera kuti deletion okutodza. Kufanana zvose vachiberekwa pathologies, zvirwere chokuita nezvemidzimu dzezvakatipoteredza ngozi. Izvi zvinosanganisira kushushikana, ruzivo Mwedzi pamuviri, makemikari chepfu, kusvuta, udhakwa, uye nokugamuchira zvinodhaka.

The kunotoda Mufananidzo chirwere

Kearns-Sayre chirwere kunoratidzwa matatu ainakidza zviratidzo. Pakati pavo:

1. Progressive ophthalmoplegia. Inokudziridza nokuda kuparadzwa dzimwe tsandanyama, izvo basa racho yeziso uye yokumusoro fungiro. Nokuda kwechikonzero ichi, pane chimwe chiratidzo - mativi ptosis. Kakawanda, izvi ndicho chiratidzo mugumisiro wokutanga. Gare gare kutanga kushamiswa tsandanyama panorumwe ziso. Zvishoma nezvishoma, nokuda ptosis uye ophthalmoplegia pfungwa zvakawanda ipfupi, uye munhu ane kukotama kana kukanda musana musoro wake kuti aone.
2. Pigmentary retinopathy. chiratidzo ichi kunoratidzwa chimiro makwapa pamusoro the retina. Kana Paunoongorora ziso centre (pazasi) nokubatsira zano rinokosha, unogona kuona vanhuwo pigmentation. Kusiyana, retinitis, vakawanda Painted centre - the macula. Somugumisiro pigmentation mune vamwe varwere pane chiratidzo "upofu usiku", uye ungaderedza kutarisana acuity.
3. Intracardiac blockade. Nyaya iyi kunokudziridzwa gare gare pane vamwe. Kazhinji, kuti conductivity musisiri ari AV raiva pedyo nebundu, iyo inozivikanwa nokuva bradycardia, kurukutika uye kunetseka kusashivirirana. Kana mamakisi 3 blockade anogona kuonekwa pfari uye kufenda.

Chirwere nzira nokuti chirwere Kearns-Sayre

chirwere Kearns-Sayre chirwere pazvikanganiso kurapwa uye rabhoritari uye richishanda mashoko. Hosha ikabuda vana kana kuyaruka (pasi pemakore 20) uye ane mberi kosi. Kuwedzera chaiwo zviratidzo, pangava nedzimwe kuratidzirwa chirwere. Pakati pavo: cerebellar ataxia, kusanzwa, utera kuti tsandanyama dzechiso, vasanyanye akachenjera. Instrumental bvunzo, zvinodiwa chirwere ichi: ECG uye EhoKS, ophthalmoscopy. Kuti kuongororwa zvakarurama, unofanira kugumisa chinhu ophthalmologist, cardiologist uye genetics.

Pakurapa chirwere Kearns-Sayre

To musi, vari inoitiranwa etiological kurapwa chirwere ichi. Vamwe ongororo tsanangura kubudirira zvinodhaka "Coenzyme Q10», izvo normalizes padanho lactic uye pyruvic acids. varwere All kutambura kubva chirwere Kearns-Sayre zvakakodzera symptomatic kurapwa. Kumboda kwakanyorwa nechinangwa kuchaitwa mwoyo nechigumbuso. Kana bradycardia prescribers "atropine" kana paine nokugwinha - zvinodhaka "Diazepam". Kazhinji, murwere inoda chinodzora kurova. Nokuti kurapa ptosis, ophthalmoplegia uye pigmentary retinopathy zvakakodzera kuvhiyiwa.