He aha te mea Kearns-Sayre Syndrome?

Kei te mohiotia te reira i kitea maha abnormalities congenital ki te whanaketanga o iranga. Ka taea e huringa pūira meinga he momo o abnormalities. He kitea tonu i muri i whanau etahi o ratou, ētahi i faaite mai ratou i roto i te kōhungahunga pakeke ranei. e pā ana Kearns-Sayre syndrome ki te māuiuitanga o te DNA punaraungao. fakatahai reira 3 tohumate, e kore te hononga i waenganui i a ratou i kitea ra ano te mutunga o te rau tau 20. mate punaraungao - he rōpū nui o abnormalities ira, takoto i roto i te utero me tuku na roto i te raina whaea. kitea tēnei momo o te pīari i te whakawhetai ki te whanaketanga o iranga.

Kearns-Sayre syndrome: whakaahuatanga

auraa Disease punaraungao DNA te disorders o kiko respiration, kawea nei i roto i i te taumata matüora. Ka rite ki te hua, te tohu o enei pathologies taea e rerekē. e pā ana Kearns-Sayre syndrome ki te rōpū o mate punaraungao, e whai wāhi mukunga o pūira. I whakaahuatia tuatahi te reira i roto i 1958. Ahakoa te pūtaiao hua Cairns i 9 anake tauira o mate. Ko te tohu matua o tenei mate - he ophthalmoplegia, retinopathy me intracardiac pā ahu whakamua. Puta ana te mate ki rite auau i roto i rua tamaroa e tamahine. Otiia kaikawe pakaru pūira taea anake e te wahine. E pā ana tēnei māuiuitanga ki te Pākatokato rawa onge, tuhia tēnei wā e pā ana ki 200 take te ao.

Take syndrome Kearns-Sayre

Ka rite ki ki mate punaraungao katoa, ako te syndrome te kore pera roa i mua. Na reira, e kore e mohiotia nga take tangohia o tona whanaketanga. Kei te whakapono te reira e hanga e te Pākatokato e i roto i te huatū tuatahi o te hapūtanga, ka Kei te takoto te kopa, me te riro rauemi ira i te mau metua. E hāngai ana te mate te mukunga o te pūira, i.e. mate o tona wahi o te whenu DNA. I roto i te tua, te tahi mau tūroro i te tāruarua (rearua) D-koropiko. kia kawe raraunga o whakarereke ira wahine anake. Tenei Ko te mea te mekameka punaraungao, i reira e he wahi anake o hua. Otiia, e kore e taea ki te whakatau rite te mea pāngia e te mukunga o pūira. Ka rite ki pathologies congenital katoa, e pā ana mate ki te rongo ki mōrearea taiao. ngā ahotea, ite i roto i o te hapū tuatahi te marama, poisoning matū, paowa, waipiro enei, a riro taero.

Ko te pikitia haumanu o te mate

āhuatanga Kearns-Sayre syndrome e toru tohu matarohia. I roto ia ratou:

1. ophthalmoplegia Progressive. whakawhanake te reira e tika ana ki te whakangaromanga o etahi uaua, e he kawenga mō te kaupapa o te 'Afio, me te kamo runga. Hoki tenei take, tera atu tetahi tohumate - ptosis taha. Nuinga o ngā wā, ko te tohu tuatahi o te pānga tenei. I muri mai tīmata ki te miharo i te uaua i runga i te tahi atu te kanohi. Āta, e tika ana ki te ptosis me ophthalmoplegia tiro atu iti, a kua te tangata ki te whakapiko ki raro, ranei, ki te maka hoki tona matenga ki te kite.
2. retinopathy Pigmentary. āhuatanga tēnei tohumate e te ahua o te wahi i runga i te etine. Ki te titiro koe i te pokapū kanohi (raro) ki te awhina o te pūrere motuhake, ka taea e kite koe i te ähua noa. I roto i te rerekē, retinitis, pokapū tino peitatanga - te tongi. Ko te mutunga o te ähua i roto i te tahi mau tūroro i reira ko te tohumate o "matapo po", ka heke acuity ataata.
3. pā Intracardiac. whakawhanakehia ana tēnei āhuatanga te muri atu i te ētahi atu. I roto i te nuinga o te wā, te wehenga kawe ia i roto i te kōpuku AV, āhuatanga nei i te bradycardia, rohirohi, me te ahotea ātete. Ki te taea kitea māka 3 pā haurangi me kaihapai.

paearu tātaritanga mo te syndrome Kearns-Sayre

e hāngai ana syndrome Kearns-Sayre tātaritanga te i runga i raraunga haumanu me te taiwhanga, me te mauhaa. whakawhanake te mate i roto i ngā tamariki taiohi ranei (i raro i te 20 tau) me te kua he akoranga whakamua. I tua atu ki te tohu matarohia, i reira kia kia atu faaiteraa o te mate. I roto ia ratou: ataxia cerebellar, turi, ngoikore o uaua kanohi, he heke o te maramarama. whakamātautau Instrumental, e hiahiatia ana mo tenei syndrome: ECG me EhoKS, ophthalmoscopy. Ki te hanga i tētahi tātaritanga tika, e hiahia ana koe ki te faaoti i te ophthalmologist, mafatu me iranga.

Treatment o te syndrome Kearns-Sayre

Ki te rā, kei te whakawhanakehia maimoatanga etiological o tenei mate. Ētahi rangahau whakaahua te whai huatanga o te tarukino "Coenzyme Q10», e normalizes te taumata o te lactic me waikawa pyruvic. tūroro katoa e mate ana i te syndrome Kearns-Sayre tika symptomatic maimoatanga. Fele e hāngai reira i te whakakorenga o te poraka ngakau. A, no te kaitūtohu bradycardia "atropine" ki te reira haehae - tarukino "Diazepam". I roto i te nuinga o te wā, me te manawanui he pacemaker. Hoki te maimoatanga o te ptosis, ophthalmoplegia me retinopathy pigmentary tafa tika.