Kodi matenda a Cairns-Seir ndi otani?

Zikudziwika kuti pakukula kwa majeremusi, ambiri a congenital pathologies adapezeka. Kusintha kwa Chromosome kungayambitse zolakwika zosiyanasiyana. Zina mwazo zimawoneka mwamsanga mwanayo atabadwa, ena amawonetsedwa muubwana kapena akuluakulu. Matenda a Cairns-Seyr amatanthauza kuti DNA ya mitochondrial imayambitsa matenda. Chimagwirizanitsa zizindikiro zitatu, kugwirizana komwe kunapezedwa kokha kumapeto kwa zaka za zana la 20. Matenda a mitochondrial ndi gulu lalikulu la ma genetic pathologies omwe anaikidwa pa nthawi ya intrauterine ndikukula kudzera mwa mzere wamayi. Mitundu yowonongeka imeneyi inapezedwa chifukwa cha chitukuko cha majeremusi.

Matenda a Cairns-Seyr: ndondomeko

Matenda a DNA ya mitochondrial amasonyeza kupunduka kwa minofu, yomwe imachitika pa chilengedwe cha biochemical. Zotsatira zake, zizindikiro za matendawa zingakhale zosiyana. Matenda a Cairns-Seyr amatanthauza matenda a mitochondrial omwe amachotsa chromosome. Yoyamba inafotokozedwa mu 1958. Panthawiyo, wasayansi Cairns anatchula zitsanzo 9 zokha za kukhumudwa. Zizindikiro zikuluzikulu za matendawa ndizowonjezera ophthalmoplegia, retinopathy ndi osagwirizana ndi matenda. Matendawa amapezeka mofanana mofanana pakati pa anyamata ndi atsikana. Komabe, ndi amayi okha omwe angakhale ogwira ntchito ya chromosome yowonongeka. Matendawa ndi ovuta kwambiri, pakali pano ma 200 ali olembedwa padziko lonse lapansi.

Zifukwa za matenda a Cairns-Seir

Monga matenda onse a mitochondrial, matendawa amaphunzira osati kale kwambiri. Chifukwa chake, zifukwa zenizeni za chitukukocho sadziwika. Zimakhulupirira kuti vutoli limapangidwa m'miyezi itatu yoyamba ya mimba, pamene kuyika zida ndi ma genealo zomwe anazilandira kuchokera kwa makolo zimachitika. Pamtima mwa matendawa ndi kuchotsedwa kwa chromosome, ndiko kutayika kwa malo ake kuchokera ku chingwe cha DNA. Kuonjezera apo, odwala ena amachitanso kubwereza (kawiri kawiri) a D-loop. Azimayi okha ndiwo angakhale otengera zokhudzana ndi majini. Izi zimafotokozedwa ndikuti makina a mitochondrial alipo pokhapokha ma oocyte. Komabe, n'zosatheka kukhazikitsa ndendende zomwe zimayambitsa njira yothetsera ma chromosomes. Monga onse a congenital pathologies, matenda akugwirizanitsidwa ndi kuopsa kwa zachilengedwe. Izi zikuphatikizapo: zovuta zomwe zimapezeka mwezi woyamba wa mimba, poizoni wa mankhwala, kusuta fodya, uchidakwa komanso kugwiritsa ntchito mankhwala osokoneza bongo.

Chithunzi chachipatala cha matendawa

Matenda a Cairns-Seyr amadziwika ndi zizindikiro zitatu. Zina mwa izo:

1. Kupita patsogolo kwa ophthalmoplegia. Zimakula chifukwa cha kugonjetsedwa kwa minofu inayake, yomwe imayendetsa kayendetsedwe ka diso ndi chikopa chachikulu. Pa chifukwa chomwechi, palinso chizindikiro china - ptosis imodzi. Kawirikawiri ichi ndi chizindikiro choyamba chomwe chimadzipangitsa kukhala chomwecho. Kenaka, minofu ya diso lina imayamba kukhudza. Pang'onopang'ono, chifukwa cha ptosis ndi ophthalmoplegia, masomphenya a masomphenya amachepetsa kwambiri, ndipo munthuyo ayenera kugwada kapena kupukuta mutu wake kuti awone.
2. Matenda a retinopathy. Chizindikiro ichi chimadziwika ndi maonekedwe a ma retina. Ngati mutayang'ana malo openya (pansi) ndi chipangizo chapadera, mukhoza kuona kufalikira kwa mtundu wa pigmentation. Mosiyana ndi retinitis, malowa ndi obiriwira kwambiri - malo achikasu. Chifukwa cha ma pigmentation, odwala ena ali ndi chizindikiro cha "khungu la usiku" ndipo amachepetsanso maonekedwe.
3. Intracardiaac blockade. Chizindikirochi chikupitirira patsogolo kuposa ena. Kawirikawiri, machitidwewa amavutitsidwa ndi kachilombo ka AV, kamene kamadziwika ndi bradycardia, kutopa mwamsanga ndi kusagwirizana ndi katundu. Pa madigiri atatu a blockade, kukhumudwa ndi kutaya thupi kumachitika .

Kuyeza kwa matenda a Cairns-Seir matenda

Kuzindikira za matenda a Kerns-Seyr kumayambira pazipatala ndi ma laboratory-instrumental data. Matendawa amakula mu ubwana kapena unyamata (mpaka zaka 20) ndipo ali ndi njira yopitilirapo. Kuphatikiza pa zizindikilo zapachiyambi, ziwonetsero zina zowonongeka zingathekenso. Zina mwa izo: cerebellar ataxia, kugontha, kufooka kwa minofu ya nkhope, kuchepetsa nzeru. Kufufuza kwazithunzithunzi kwa matendawa: ECG ndi Echocardiography, ophthalmoscopy. Kuti mudziwe bwinobwino, mukufunikira maganizo a katswiri wa ophthalmologist, katswiri wa zamoyo komanso wobadwa nawo.

Kuchiza kwa matenda a Cairns-Seir

Pakadali pano, chitukuko cha mankhwala opatsirana ndi matendawa. Kafukufuku wina akufotokoza momwe Coenzyme Q10 imayendera, yomwe imayimitsa mlingo wa lactic ndi pyruvic acid. Odwala onse omwe ali ndi matenda a Cairns-Seir amafunikira chithandizo chamankhwala. Chimodzimodzinso ndi cholinga chochotsa mtima wamkati. Ndi mankhwala otchedwa bradycardia, perekani mankhwalawa "Atropine", ngati pali matenda otsekemera - mankhwala "Diazepam". Nthaŵi zambiri, wodwalayo amafunika pacemaker. Pochiza ptosis, ophthalmoplegia ndi pigmentary retinopathy, opaleshoni yothandizira ndi yofunikira.