He aha ka Kearns-Sayre maʻi pale?

Ua ua ike i na mea he nui congenital abnormalities i ike i ka ulu ana o aaiaoe?. chromosomal loli hiki i keʻano o nā abnormalities. e hiki koke ma hope o ka hānau kekahi o lakou, oiai kekahi poe i hoike mai ai ia lakou iho ma ka kamaliʻi a me adulthood. Kearns-Sayre maʻi pale pili i ka pathology o mitochondrial DNA. Ua hiehie 3 symptom, ka pilina ma waena o ia ia i ike a hiki i ka hopena o ka 20th kenekulia. Mitochondrial maʻi - he nui pūʻulu o aaiaoe abnormalities, moe ihola i loko o ka utero a pū i hiki ma ka maternal laina. Kēiaʻano o ka abnormality i ike i ke aloha i ka ulu ana o aaiaoe?.

Kearns-Sayre maʻi pale: hōʻikeʻano

Maʻi mitochondrial DNA mea i manaoia kāna hana o ka'aʻaʻa ka hanu, a ua lawe mai i ka biochemical kiʻekiʻe. E like me ka hopena, hiki e okoa ka symptoms o kēia mau pathologies. Kearns-Sayre maʻi pale pili i kekahi pūʻulu o mitochondrial maʻi, a pū moʻolelo holoi ana o chromosomes. Ua Ua hōʻike mua i ka 1958. Oiai ke nä känaka 'epekema Cairns kūpono ma wale 9 examples o ka maʻi. I ka papa kuhikuhiE symptoms o keia maʻi - he e holumua ai ophthalmoplegia, retinopathy a me ka intracardiac blockade. Ka maʻi ia lŘlŘ me ka like alapine (frequency) i loko o nā keiki a me nā kaikamāhine. Aka nā moku halihali mokulele poino chromosomes hiki wale nō ia i ka wahine. Kēia pathology pili ana i ka loa ke nānā anomaly, a ianoiyuaa a kākau ma kahi o 200 hihia nā hualoaʻa a.

Kumu maʻi pale Kearns-Sayre

E like me nā mea a pau mitochondrial mai, ua aʻo mai i ka manawa ma mua i ka maʻi pale. No laila, ka mea kiko'ī kumu o kona? Acaeoey ka mea,ʻaʻole iʻikeʻia. Ua Ua manaoio aku i ka anomaly ua hanaʻia i loko o ka trimester mua o ka hāpai keiki ka wā ma laila ua waiho nā'aʻaʻa a aaiaoe mea ili mai o nā mākua. I ka maʻi ua ma muli moʻolelo holoi o chromosome, a laila lilo no kona hapa o ka DNA ili aku ai. Eia hou, i kekahi mau hoʻomanawanui iki mai i ka duplication (a pāpālua hoʻi) D-loop. ʻIkepili nā moku halihali mokulele o aaiaoe hoololi i e wale na wahine. Kēia mea, no ka mea mitochondrial kaula, eia wale kekahi hapa o ka hua. Aka hoi, he mea hiki ole ke hooholo pono mea triggers ka moʻolelo holoi ana o chromosomes. Like a pau congenital pathologies, mai pili me ka waiū i? Aneie ÷ ino. O nā stress, ua hoano e ia ma ka malama mua o ka hāpai keiki, Nine Inch kaʻapu kōheoheo, pūnuku puhi, alcoholism, a loaa ai '.

Ka lapaʻau kiʻi o ka maʻi

Kearns-Sayre maʻi pale ua wehewehe aku ka ekolu Classic symptoms. I waena o lākou:

1. E holumua ai ophthalmoplegia. Ua hoʻomōhala i ka manawa i ka make ana o kekahi mau nāʻiʻo, i nā kuleana no ka holo ana o ka'ōnohi a poʻopoʻo, a me ka hoaka o ka lihilihi. No ia kumu, he mea kekahi symptom - kapakahi ptosis. Loa pinepine, keia mea o ka mua hoailona o ka hopena. Hope olalo e kahaha ma na nāʻiʻo ma luna o ka mea 'ē aʻe maka. Ua, ma muli o ka ptosis a me ophthalmoplegia E nānā hou hoemi, a me ke kanaka mea e lena ia paha, e hoʻolei hoʻi i kona poʻo i ka ike.
2. Pigmentary retinopathy. Kēia symptom Ua wehewehe aku ma ke ano o ke kiko ma ka retina. Inā e nānā i ka maka oaio (lalo) me ke kōkua o ke kūikawā mea, e hiki ke ike i ka like pigmentation. Akä naÿe, retinitis, loa pena-oaio? A - ka macula. E like me ka hopena o ka pigmentation i loko o kekahi nā mea maʻi he mea he symptom o ka "po makapo", a ua hoʻemi pilikia makapō acuity.
3. Intracardiac blockade. Kēia hiʻona ua ulu hope ma mua o ka mea 'ē aʻe. Ma ka hapanui o na hihia, ka conductivity, mai hemo mai i loko o ka od wahi, a ua wehewehe aku ma ka bradycardia, luhi a me ka stress intolerance. Inā papa 3 blockade hiki hou ke kāʻili 'ana a me ka maʻule hou ihola nō.

PalekanaEND_LINK ana hoʻohālike no ka maʻi pale Kearns-Sayre

maʻi pale Kearns-Sayreʻike, ua nānā 'ana ma luna o lapaʻau, a keʻena hoʻokolohua, a vocal ikepili. I ka maʻi e hoʻomōhala ana i loko o nā keiki a me adolescents (ma lalo o 20 makahiki) a mai kekahi e holumua ai papa. Ma waho aʻeo i ka Classic symptoms, ma laila i e nā hoikeana o ka maʻi. I waena o lākou: cerebellar ataxia, pepeiao kuli, nawaliwali o ka lehalehu t nāʻiʻo, he emi o ke akamai. Instrumental examinations, koi 'ia no kēia maʻi pale: ECG a me EhoKS, ophthalmoscopy. E hana i ka pololeiʻike, e pono e hoʻopau i ka ophthalmologist, cardiologist a me aaiaoe?.

Lapaau ana i ka maʻi pale Kearns-Sayre

I ka lā, e ke ulu etiological lapaʻau o keia maʻi. haʻawina kekahi wehewehe i ka laulā o ka lāʻau "Coenzyme Q10», i normalizes ka nui o ka lactic a me pyruvic nāʻakika. A pau nā mea maʻi e loaa ana mai ka maʻi pale Kearns-Sayre pono symptomatic lapaau. Holo nōhie ka mea, ua nona ma ka hoʻopau o ka naau e hihia. I ka bradycardia prescribers "atropine" ina he convulsions - lāʻau "Diazepam". Ma ka hapanui o na hihia, ka hoʻomanawanui nele i ka pacemaker. No ka iapaau ana o ka ptosis, ophthalmoplegia a me pigmentary retinopathy ponoʻoki kino.