Ukuphazamiseka Kwemetabolic Inherited
Isifo sikaLeigh yisifo esiwumzuzwana esiwumzuzwana esonakalisa isimiso senzwa esisemkhatsini (ubuchopho, intambo yomgogodla, kanye nezinzwa ze-optic). Isifo sikaLeigh sibangelwa yizinkinga emitochondria, izikhungo zamandla emangqamuzaneni omzimba.
Isifo sofuzo esibangela isifo sikaLeigh singathola ifa ngezindlela ezintathu ezahlukene. Kungase kuzuzwe i- chromosome ye - X (yowesifazane) njenge-genetic deficiency ye-enzyme ebizwa nge-pyruvate dehydrogenase complex (PDH-Elx).
Kungase kuzuze njengefa eliyisimo esibucayi esithinta umhlangano we-enzyme okuthiwa i-cytochrome-c-oxidase (COX). Kungase futhi kuzuze njengefa lokuguquguquka kwi-DNA esitokisini se-mitochondria.
Izimpawu
Izimpawu zesifo sikaLeigh zivame ukuqala phakathi kwezinyanga ezintathu nezinyanga ezimbili. Njengoba lesi sifo sithinta isimiso sezinzwa eziphakathi, izimpawu zingase zifake:
- ikhono lokuncelisa kahle
- ubunzima obambe ikhanda
- ukulahlekelwa amakhono emoto usana lwalunjengokubamba iqhaza nokuligubha
- ukulahlekelwa ukudla
- ukuhlanza
- ukucasuka
- ukukhala okuqhubekayo
- ukuhlukunyezwa
Njengoba isifo sikaLeigh sibi kakhulu ngokuhamba kwesikhathi, izimpawu zingase zifake:
- ubuthakathaka jikelele
- ukungabi nethoni ye-muscle (hypotonia)
- iziqephu ze-lactic acidosis (ukuqoqwa kwe-lactic acid emzimbeni nasebuchosheni) okungabangela ukuphefumula nokusebenza kwezinso
- izinkinga zenhliziyo
Ukuxilongwa
Ukuthola isifo sesifo sikaLeigh sisekelwe ezimpawu ezinganeni noma ingane.
Izivivinyo zingabonisa ukungabi khona kwe-pyruvate dehydrogenase noma ukutholakala kwe-lactic acidosis. Abantu abanesifo sikaLeigh bangaba nemikhakha emingqamuzana yomonakalo ebuchosheni engase itholakale ngokuchofoza ubuchopho. Kwamanye abantu, ukuhlolwa kofuzo kungase kubone ukuthi kukhona ukushintshashintsha kwezakhi zofuzo.
Ukwelapha
Ukwelashwa kwesifo sikaLeigh ngokuvamile kuhlanganisa amavithamini afana ne-thiamine (i-vitamin B1). Ezinye izindlela zokwelapha zingagxila ezimpawu ezikhona, njengezidakamizwa zokulwa ne-anti-seizure noma imithi yezinhliziyo noma izinso. Ukwelapha ngokomzimba, emsebenzini, nokukhuluma kungasiza ingane ukuba ifinyelele ekuthuthukisweni kwayo.
Imithombo:
> "I-NINDS Leigh's Disease Information Page." Izinkinga. 13 Feb 2007. Inhlangano Kazwelonke Yezinkinga Neurological and Stroke.
> "Izifo zikaLeigh." Inkomba yezifo ezinzima. 17 Dec 2007. Inhlangano Kazwelonke Yezinkinga Ezinzima.
> Macnair, u-Trisha. Isifo Se-Leigh. I-BBC Impilo. Julayi 2006.