Yintoni Kearns-Sayre Syndrome?

Yinto eyaziwayo ukuba ukungaqheleki ezininzi iziphene kwafunyaniswa kunye nophuhliso yemfuza. utshintsho chromosomal kunokubangela ezininzi ezingaqhelekanga. Ezinye zazo zibonakala ngoko nangoko emva kokuzalwa, ngoxa abanye azibonakalisa ebuntwaneni okanye ebudaleni. Kearns-Sayre syndrome libhekisela ngezifo ye DNA ayo. Luhlanganisa 3 induna, ulwalamano phakathi kwabo sasingaziwa de ekupheleni kwenkulungwane yama-20. isifo ayo - iqela elikhulu ezingaqhelekanga yemfuza, walala kuloo Esibelekweni kwaye ayihambi ngokusebenzisa umgca koomama. Olu hlobo ukungaqheleki lwafumaneka Bulelani kuphuhliso yemfuza.

Kearns-Sayre syndrome: Inkcazo

Disease ayo DNA ukuthini ukuphazamiseka esiqwini yokuphefumla, oluqhutywa kwinqanaba ezinto eziphilayo. Ngenxa yoko, iimpawu zezi ezimbi kunokuba ezahlukeneyo. Kearns-Sayre syndrome libhekisela kwiqela kwezifo ayo, ebandakanya ukucinywa zofuzo. Kuye kuchazwe kuqala ngo-1958. Nangona Isazinzulu Cairns neziphumo imizekelo 9 kuphela sifo. Eyona engundoqo iimpawu zesi sifo - obuqhubekayo ophthalmoplegia, retinopathy kunye intracardiac kwamabutho. Isifo kwenzeka rhoqo obulinganayo kuzo zombini amakhwenkwe kunye namantombazana. Kunjalo Nkwali ezonakeleyo zofuzo inokuba umfazi kuphela. Le ngezifo libhekisela anomaly enqabileyo kakhulu, abhalwe ngoku amatyala malunga 200 ehlabathini lonke.

Izizathu syndrome Kearns-Sayre

Njengazo zonke izifo ayo, syndrome olufundwa hayi kudala. Ngoko ke, ukuba oonobangela ngqo kuphuhliso yayo ayaziwa. Ekukholelwa ukuba anomaly senziwa ezintathu yokuqala ukukhulelwa xa ndibekelwe ancedisana genetic material njengelifa kubazali. Esi sifo nokususwa chromosome, ngamanye ilahleko nesabelo salo yalo mngxilo DNA esekelwe. Ukongeza, ezinye izigulane kufuneka kukuphindwa (kabini) D-loop. abathwali Data iinguqu yemfuza inokuba abafazi kuphela. Oku kungenxa yokuba i-chain ayo, kukho inxalenye kuphela amaqanda. Kodwa ke, kunzima ukwazi kakuhle oko kubangela ukucinywa zofuzo. Njengazo zonke ezimbi iziphene, izifo ezinxulumene sesichengeni kwiingozi zokusingqongileyo. Ezi ziquka uxinzelelo, abanamava ngenyanga yokuqala yokukhulelwa, imichiza Ityhefu, ukutshaya, ukusela utywala, kwaye kufumana amachiza.

Lo mfanekiso kwezonyango sifo

Kearns-Sayre syndrome luphawulwa iimpawu ezintathu ezinkulu. Phakathi kwabo:

1. ophthalmoplegia okuqhubekayo. Yenzeka ngenxa kwintshabalalo izihlunu ezithile, ezo banoxanduva intshukumo lweliso lakho kunye ijwabu eliphezulu. Ngenxa yesi sizathu, kukho enye uphawu - ptosis lwayo. Amaninzi, Nguwo lo ke umqondiso lokuqala isiphumo. Kamva ukuqala bamangaliswa izihlunu kwelinye iliso. Ngokuthe ngcembe, ngenxa ptosis kunye ophthalmoplegia kuzijonga ngakumbi lifinyele, kwaye umntu sigobe okanye alahlele emva intloko yakhe, ukuze ubone.
2. retinopathy Pigmentary. Le uphawu luphawulwa imbonakalo amabala kwi retina. Xa uhlolisisa iziko iliso (ezantsi) ne ngoncedo isixhobo okhethekileyo, uyakwazi ukubona nombala eqhelekileyo. Ngokwahlukileyo koko, retinitis, iziko kakhulu eveze - le macula. Ngenxa nombala kwezinye izigulane kukho iliphawu "ukungaboni ebusuku", nokwehla acuity olubonakalayo.
3. ukuvimba Intracardiac. Olu phawu iqulunqwa kamva ngaphezu kwabanye. Kwiimeko ezininzi, ezi leti conductivity kwi esiludumbo AV, nto leyo luphawulwa bradycardia, lidiniwe noxinezeleko ukunganyamezelani. Ukuba grade 3 kwafa angavela uhlaselwe kunye waphela.

iindlela zokuxilonga ukuba syndrome Kearns-Sayre

syndrome Kearns-Sayre diagnosis lusekelwe kulwazi zonyango kunye elebhu zomculo. Esi sifo senzeka ebantwaneni okanye abafikisayo (ngaphantsi kweminyaka engama-20) kwaye ikhondo eqhubela phambili. Ukongeza kwezi mpawu odidi, kusenokubakho nezinye izifo. Phakathi kwabo: Ataxia cerebellar, ukungeva ngeendlebe, ubuthathaka imisipha yobuso, ukuhla ubukrelekrele. Iimviwo instrumental, efunekayo kule syndrome: ECG kunye EhoKS, ophthalmoscopy. Ukwenza ukuxilongwa, kufuneka bagqibe zamehlo, cardiologist kunye nemfuza.

Unyango lwe syndrome Kearns-Sayre

Ukuza kuthi ga ngoku, ziyaphuhliswa unyango etiological kwesi sifo. Ezinye izifundo bachaza ukusebenza ichiza "Coenzyme Q10», leyo normalizes kwinqanaba lactic kunye asidi pyruvic. Zonke izigulane abaphethwe syndrome Kearns-Sayre kuyimfuneko unyango nomqondiso. Ngokomthetho kubhaliwe ezijoliswe ekupheliseni of block intliziyo. Xa bradycardia prescribers "atropine" xa kukho unditsho - iziyobisi "Diazepam". Kwiimeko ezininzi, isigulane kufuneka ipacemaker. Kuba unyango ptosis, ophthalmoplegia kunye retinopathy pigmentary utyando olwalufuneka.