Kearns Sayre syndrome cuam tshuam li cas ntawm tes ua pa?
Kearns Sayre syndrome cuam tshuam li cas ntawm tes ua pa?

Video: Kearns Sayre syndrome cuam tshuam li cas ntawm tes ua pa?

Video: Kearns Sayre syndrome cuam tshuam li cas ntawm tes ua pa?
Video: Kearns-Sayre Syndrome 2024, Lub rau hli ntuj
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Kearns - Sayre syndrome yog ib qho xwm txheej tshwm sim los ntawm qhov tsis xws luag hauv mitochondria, uas yog cov qauv hauv cov hlwb uas siv cov pa oxygen los hloov lub zog ntawm cov zaub mov mus rau hauv cov hlwb ua tau siv. Kev tshem tawm ntawm mtDNA ua rau muaj kev puas tsuaj ntawm oxidative phosphorylation thiab txo qis hauv cellular kev tsim hluav taws xob.

Tom qab ntawd, ib tus kuj tseem yuav nug tau tias, organelle dab tsi Kearns Sayre syndrome cuam tshuam?

Kearns-Sayre syndrome yog mitochondrial DNA (mtDNA) tshem tawm syndrome. Nws tshwm sim los ntawm qhov txawv txav hauv DNA ntawm cov mitochondria - cov qauv me me zoo li tus pas nrig pom nyob hauv txhua lub xov tooj ntawm lub cev uas tsim lub zog uas ua haujlwm ntawm tes.

Ib yam li ntawd, cov tsos mob tseem ceeb ntawm Kearns Sayre syndrome yog dab tsi? Cov cim thiab tsos mob ntawm Kearns-Sayre syndrome suav nrog cov hauv qab no:

  • Cov leeg tsis muaj zog - Cov kab mob sib thooj myopathy, ptosis, thiab sab nraud ophthalmoplegia.
  • Central nervous system (CNS) tsis ua haujlwm - Retinitis pigmentosa, cerebellar ataxia, kev paub tsis meej, cataracts, thiab encephalopathy.

Kuj Paub, puas yog Kearns Sayre syndrome ua rau neeg tuag taus?

Kearns - Sayre Syndrome feem ntau yog tshwm sim los ntawm ib leeg, kev hloov pauv loj ntawm mitochondrial DNA. Hauv Kearns - Cov tsos mob ntawm Sayre , kev mob plawv loj zuj zus tuaj ib txwm muaj thiab tuaj yeem ua tau tuag ; yog li ntawd, kev tso chaw raws sijhawm ntawm lub tshuab ua kom lub plawv tuaj yeem txuas ntxiv lub neej.

Kearns Sayre Syndrome zoo li cas?

Kearns - Sayre Syndrome (KSS) yog a tsawg neuromuscular tsis meej pem . Hauv cov teeb meem no, muaj ntau qhov txawv txav ntawm cov mitochondria puas lawm. Hauv kwv yees li 80 feem pua ntawm cov tib neeg cuam tshuam ntawm KSS, kev ntsuam xyuas yuav nthuav tawm cov khoom siv caj ces uas ploj lawm (kev tshem tawm) cuam tshuam nrog DNA tshwj xeeb hauv mitochondria (mtDNA).

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