Yuav ua li cas yog Kearns-Sayre Syndrome?

Nws yog lub npe hu hais tias muaj ntau congenital txawv txav sab nrog txoj kev loj hlob ntawm noob caj noob ces. chromosomal hloov yuav ua rau ib tug ntau yam ntawm kev txawv txav. Ib txhia ntawm lawv yog cov pom tam sim ntawd tom qab yug tus me nyuam, thaum lwm tus neeg manifest lawv tus kheej nyob rau hauv thaum yau los yog neeg laus. Kearns-Sayre syndrome hais txog ib tug pathology ntawm mitochondrial DNA. Nws combines 3 cov tsos mob, cov kev sib raug zoo nruab nrab ntawm lawv twb nrhiav tsis tau txog rau thaum xaus ntawm lub xyoo pua 20th. Mitochondrial kab mob - ib tug loj pawg ntawm kev tshuaj ntsuam genetic txawv txav, nteg nyob rau hauv lub utero thiab kis tau los ntawm cov niam kab. Qhov no hom ntawm abnormality sab ua tsaug rau txoj kev loj hlob ntawm noob caj noob ces.

Kearns-Sayre syndrome: piav qhia

Kab Mob mitochondrial DNA yog meant mob ntawm cov nqaij mos ua pa, uas yog nqa tawm ntawm ib tug biochemical theem. Raws li ib tug tshwm sim, cov tsos mob ntawm cov pathologies yuav txawv. Kearns-Sayre syndrome hais txog ib tug pab pawg neeg ntawm mitochondrial cov kab mob, uas koom nrog deletion ntawm chromosomes. Nws twb xub piav nyob rau hauv 1958. Thaum tus paub txog Cairns ua nyob rau hauv tsuas 9 piv txwv ntawm tus kab mob. Lub ntsiab ntawm cov tsos mob tus kab mob no - ib tug hnyav ophthalmoplegia, retinopathy thiab intracardiac blockade. Tus kab mob tshwm sim sib npaug zos zaus nyob rau hauv cov tub thiab cov ntxhais. Cuaj kaum muaj puas chromosomes yuav tsuas yuav ib tug poj niam. Qhov no pathology yog hais txog mus rau ib tug tsis tshua muaj heev anomaly, tam sim no kaw txog 200 tus neeg mob thoob ntiaj teb.

Yog vim li cas syndrome Kearns-Sayre

Raws li nrog rau tag nrho cov mitochondrial cov kab mob, lub syndrome kawm tsis yog li ntawd ntev dhau los. Yog li ntawd, lub caij nyoog ua rau ntawm nws txoj kev loj hlob yog tsis paub. Nws yog ntseeg hais tias lub anomaly yog tsim nyob rau hauv thawj peb lub hlis uas cev xeeb tub thaum muaj yog pw ntaub so ntswg thiab caj khoom pub los ntawm cov niam txiv. Tus kab mob yog raws li deletion ntawm chromosome, i.e. tsis ntawm nws feem ntawm cov DNA strand. Nyob rau hauv tas li ntawd, ib co neeg mob muaj ib tug luam (doubling) D-voj. Cov ntaub ntawv muaj kev tshuaj ntsuam genetic alterations tej zaum yuav tsuas cov poj niam. Qhov no yog vim hais tias cov mitochondrial saw, muaj tsuas yog ib feem ntawm lub qe. Cuaj kaum, nws yog tsis yooj yim sua los mus txiav txim raws nraim li cas ua lub deletion ntawm chromosomes. Zoo li tag nrho cov congenital pathologies, cov kab mob txuam nrog raug rau tej teeb meem. Cov no muaj xws kev nyuaj siab, tej nyob rau hauv thawj lub hlis uas cev xeeb tub, cov tshuaj lom lom, haus luam yeeb, haus dej caw, thiab tau txais cov tshuaj.

Cov soj ntsuam daim duab ntawm tus kab mob

Kearns-Sayre syndrome yog yus muaj los ntawm peb classic cov tsos mob. Cov lawv:

1. Progressive ophthalmoplegia. Nws muaj vim kev puas tsuaj ntawm tej yam nqaij, uas yog lub luag hauj lwm rau lub zog ntawm tus ceev ceev thiab lub Upper daim tawv muag. Vim li no, muaj lwm cov tsos mob - sided ptosis. Feem ntau cov feem ntau, qhov no yog thawj kos npe rau ntawm ib cov nyhuv. Tom qab ntawd pib xav tsis thoob thaum cov nqaij ntshiv nyob rau lwm yam qhov muag. Maj mam, vim ptosis thiab ophthalmoplegia pom ntau txo, thiab tus neeg muaj los nyom los yog pov rov qab nws lub taub hau mus saib.
2. Pigmentary retinopathy. Qhov no cov tsos mob yog tsiag ntawv los ntawm cov tsos ntawm me ntsis rau ntawm retina. Yog hais tias koj nyeem lub qhov muag chaw (hauv qab) nrog rau kev pab los ntawm ib tug tshwj xeeb ntaus ntawv, koj yuav saib tau lub common pigmentation. Rau hauv sib piv, retinitis, feem ntau pleev xim rau cov chaw - lub macula. Raws li ib tug tshwm sim ntawm pigmentation nyob rau hauv ib co neeg mob muaj yog ib cov tsos mob ntawm "hmo ntuj dig muag", thiab tsis pom tau qhov sib pom tseeb tseeb.
3. Intracardiac blockade. Qhov no feature yog tsim tom qab tshaj lwm tus. Nyob rau hauv Feem ntau, lub conductivity so nyob rau hauv lub AV node, uas yog yus muaj los ntawm bradycardia, qaug zog thiab kev nyuaj siab intolerance. Yog hais tias qib 3 blockade yuav tshwm sim qaug dab peg thiab tsaus muag.

Diagnostic rau kev syndrome Kearns-Sayre

syndrome Kearns-Sayre kuaj raws li kev soj ntsuam thiab kuaj thiab instrumental cov ntaub ntawv. Tus kab mob muaj nyob rau hauv cov me nyuam los yog me nyuam hluas (nyob rau hauv 20 lub xyoos) thiab muaj ib tug hnyav kawg. Nyob rau hauv tas li ntawd mus rau lub classic cov tsos mob, tej zaum yuav muaj lwm yam ces ntawm tus kab mob. Cov lawv: cerebellar ataxia, lag ntseg, tsis muaj zog ntawm lub ntsej muag nqaij, ib tug txo ntawm txoj kev ntse. Instrumental xeem, yuav tsum tau rau qhov no syndrome: ECG thiab EhoKS, ophthalmoscopy. Yuav ua ib tug muaj tseeb mob, koj yuav tsum los xaus rau ib tug ophthalmologist, kev kho plawv thiab noob caj noob ces.

Kev kho mob ntawm lub syndrome Kearns-Sayre

Rau hnub tim, tau raug tsim etiological kev kho mob ntawm tus kab mob no. Tej kev tshawb fawb qhia txog cov hauj lwm zoo ntawm cov tshuaj "Coenzyme Q10», uas normalizes lub theem ntawm lactic thiab pyruvic acids. Tag nrho cov neeg mob kev txom nyem los ntawm syndrome Kearns-Sayre tsim nyog symptomatic kev kho mob. Yeej nws yog aimed ntawm cov tshem tawm ntawm lub plawv thaiv. Thaum bradycardia prescribers "atropine" yog hais tias muaj convulsions - tshuaj "Diazepam". Nyob rau hauv feem ntau tus neeg mob, tus neeg mob xav tau ib tug pacemaker. Rau cov kev kho mob ntawm ptosis, ophthalmoplegia thiab pigmentary retinopathy tsim nyog phais.