Kuyini Kearns-Sayre Syndrome?

Kuyaziwa ukuthi kwezinso eziningi azalwa naso kwatholakala ukuthuthukiswa zofuzo. chromosomal ushintsho kungabangela ezihlukahlukene kwezinso. Ezinye zazo zibonakala ngokushesha emva kokuzalwa, kuyilapho abanye azibonakalisa ebuntwaneni noma umuntu omdala. Kearns-Sayre syndrome kubhekisela esenzakalweni esiyisimangaliso zokugula we-DNA mitochondrial. Sihlanganisa 3 uphawu, ubudlelwano phakathi kwabo alizange litholakale kuze kube sekupheleni kwekhulu lama-20. isifo Mitochondrial - iqembu elikhulu kwezinso zofuzo, abeke ku utero futhi adluliselwa ngokusebenzisa umugqa kwabakhulelwe. Lolu hlobo angahlangani kwatholakala sibonga ekuthuthukiseni zofuzo.

Kearns-Sayre syndrome: incazelo

Izifo mitochondrial DNA ehloselwe iziyaluyalu izicubu emishinini yokuphefumula, okuyinto eyenziwa ezingeni kwamakhemikhali. Ngenxa yalokho, zezimpawu zokuthi pathologies kungaba ezahlukene. Kearns-Sayre syndrome libhekisela eqenjini izifo mitochondrial, ezibangela ukususwa lezakhi zofuzo. Waqale ezichazwe 1958. Nakuba usosayensi Cairns kuholele izibonelo 9 kuphela isifo. Izimpawu eyinhloko lesi sifo - intuthuko ophthalmoplegia, retinopathy futhi intracardiac ukuvinjelwa. Lesi sifo kwenzeka nge imvamisa belingana kokubili abafana namantombazane. Noma kunjalo abathwali ezilimele Ama-chromosomes e kungaba owesifazane. Lokhu zokugula kubhekisela esenzakalweni esiyisimangaliso anomaly ezingavamile kakhulu, okwamanje okurekhodiwe okumayelana 200 amacala emhlabeni wonke.

Izizathu syndrome Kearns-Sayre

Njengazo zonke izifo mitochondrial, lesi sifo wafunda akunjalo kudala. Ngakho-ke, i-izimbangela ngqo sokuthuthuka zazingaziwa. Kukholakala ukuthi kwakheka anomaly is e senyanga yokuqala sokukhulelwa lapho selibekiwe ezicutshini futhi nesidoda okunikelwe ngofuzo kubazali. Lesi sifo kusekelwe ukususwa chromosome, isb ukulahleka ingxenye yayo engumucu DNA. Ngaphezu kwalokho, ezinye iziguli ube ukuphindaphindeka (ukubuyelela kabili) D-loop. Idatha abathwali ushintsho zofuzo kungase kube abesifazane kuphela. Lokhu kungenxa yokuthi iketango mitochondrial, kukhona kuphela ingxenye amaqanda. Noma kunjalo, akunakwenzeka ukuthola kahle ukuthi icuphe ukususwa lezakhi zofuzo. Njengazo zonke pathologies azalwa naso, yizifo ezihlobene nokungabikho ukuchayeka ezikwimvelo. Lezi zihlanganisa ukucindezeleka, enokuhlangenwe nakho ekukhalipheni ngenyanga yokuqala yokukhulelwa, chemical elinobuthi, ukubhema, ukusebenzisa uphuzo ngokweqile, futhi wamukele izidakamizwa.

Lwasemtholampilo isithombe lesi sifo

Kearns-Sayre syndrome libhekene izimpawu ezintathu zakudala. Phakathi kwabo:

1. ophthalmoplegia Progressive. Kutfutfukisa ngenxa ukubhujiswa imisipha ethile, okuyinto banesibopho ukuhamba yeso futhi leso elingenhla. Ngenxa yalesi sizathu, kukhona omunye uphawu - ptosis emaceleni. Ngokuvamile, lokhu kuvela izimpawu zokuqala umphumela. Kamuva uqale bamangala imisipha ngakolunye iso. Kancane kancane, ngenxa ptosis futhi ophthalmoplegia ukubuka ngaphezulu kuyehla, kanti umuntu kufanele goba noma siphonse emuva ikhanda lakhe ukubona.
2. retinopathy Pigmentary. Lokhu uphawu libhekene ukubukeka izindawo kuyi-retina. Uma ulihlola isikhungo iso (ngezansi) ngosizo idivayisi ekhethekile, ungabona lesikhumba elivamile. Ngokuphambene, retinitis, isikhungo painted kunazo - macula. Ngenxa lesikhumba kwezinye iziguli kukhona uphawu "ebusuku ubumpumputhe", futhi kwehle acuity ezibukwayo.
3. ukuvinjelwa Intracardiac. Lesi sici lavela kamuva kunabanye. Ezimweni eziningi, le mbali conductivity e engeyokuqala AV, esibonakala by bradycardia, ukukhathala nokucindezeleka ukungabekezelelani. Uma grade 3 ukuvinjelwa ingavela nokuquleka kanye nokuquleka.

zindlela sokuxilonga ukuze lesi sifo Kearns-Sayre

syndrome Kearns-Sayre Sifo kusekelwe idatha emitholampilo laboratory nowezinsimbi. Lesi sifo eba izingane noma izingane (eneminyaka engaphansi kwengu-20) futhi Yiqiniso ezithuthukayo. Ngaphezu izimpawu zakudala, zingase zibe khona ezinye izenzo isifo. Phakathi kwabo: ataxia cerebellar, ubuthulu, ubuthakathaka unyakazise imisipha yobuso, ukwehla intelligence. Luhlolo Instrumental, edingekayo ukuze lokhu syndrome: ECG kanye EhoKS, ophthalmoscopy. Ukushaya ukusazi ngokunembile isifo esikuphethe, udinga ukuphetha kudokotela wezifo zamehlo, wenhliziyo nofuzo.

Ukwelashwa yalesi sifo Kearns-Sayre

Kuze kube manje, isakhiwa ukwelashwa etiological yalesi sifo. Olunye ucwaningo ukuchaza ukuphumelela izidakamizwa "Coenzyme Q10», okuyinto normalizes ezingeni acidosis kanye acid pyruvic. Zonke iziguli syndrome Kearns-Sayre kudingekile ukwelashwa lingaze. Ngokuyinhloko kuhloswe nokuqedwa inhliziyo block. Lapho bradycardia prescribers "atropine" uma kukhona Ukudlikizela - izidakamizwa "Diazepam". Ezimweni eziningi, le kudingeka ukuba isiguli sibe umshini wokulawula ukushaya kwenhliziyo. Ukuze ekwelapheni ptosis, ophthalmoplegia futhi retinopathy pigmentary ukuhlinzwa kunesidingo.