Yini i-cystinosis nezimpawu eziyinhloko

-Delile

• Izimpawu eziyinhloko
• I-cystinosis ezinso
• I-cystinosis emehlweni
• Yini ebangela i-cystinosis
• Yelashwa kanjani

I-cystinosis yisifo sokuzalwa lapho umzimba uqoqa i-cystine eyeqile, i-amino acid okuthi uma idlulele ngaphakathi kwamaseli ikhiqize amakristalu avimbela ukusebenza kahle kwamaseli, ngakho-ke, lesi sifo singathinta izitho eziningana zomzimba , ihlukaniswe ngezinhlobo ezintathu eziyinhloko:

• I-cystinosis yeNephropathic: ithinta kakhulu izinso futhi ivele enganeni, kepha ingaguqukela kwezinye izingxenye zomzimba njengamehlo;
• I-cystinosis ephakathi: iyafana nephropathic cystinosis kepha iqala ukukhula ebusheni;
• I-Ocular cystinosis: wuhlobo olungathí sina olufinyelela emehlweni kuphela.

Lesi yisifo sofuzo esitholakala emchameni nasekuhloleni igazi lapho usengumntwana, cishe unezinyanga eziyisithupha ubudala. Abazali nodokotela wezingane bangasola lesi sifo uma ingane njalo yomile kakhulu, ichama futhi ihlanza kakhulu futhi ingakhuluphali kahle, kusolwa neFanconi syndrome.

Izimpawu eziyinhloko

Izimpawu ze-cystinosis ziyehluka ngokuya ngesitho esithintekile, futhi zingafaka:

I-cystinosis ezinso

• Ukoma okwandayo;
• Ukuzimisela okwengeziwe ukuchama;
• Ukukhathala okulula;
• Ukwanda komfutho wegazi.

I-cystinosis emehlweni

• Ubuhlungu emehlweni;
• Ukuzwela ekukhanyeni;
• Kunzima ukubona, okungakhula kube ubumpumputhe.

Ngaphezu kwalokho, ezinye izimpawu ezinjengobunzima bokugwinya, ukubambezeleka kokukhula, ukuphalaza njalo, ukuqunjelwa noma izinkinga ezinjengesifo sikashukela kanye nezinguquko emsebenzini wegilo, isibonelo, nazo zingavela.

Yini ebangela i-cystinosis

ICystinosis yisifo esidalwa ukuguquka kwesakhi sofuzo ku-CTNS, esibhekele ukukhiqizwa kweprotheni eyaziwa ngokuthi i-cystinosine. Le protein ivame ukususa i-cystine kumaseli angaphakathi, iyivimbele ekwakheni ngaphakathi.

Lapho lokhu kwakha kwenzeka, amaseli anempilo ayalimala futhi ahluleke ukusebenza ngokujwayelekile, alimaze isitho sonke ngokuhamba kwesikhathi.

Yelashwa kanjani

Ukwelashwa kuvame ukwenziwa kusukela lapho kutholakala lesi sifo, kuqala ngokusetshenziswa kwemithi, njenge-cysteamine, esiza umzimba ukuqeda i-cystine eyeqile. Kodwa-ke, akunakwenzeka ukuvimbela ngokuphelele ukuqhubeka kwesifo futhi, ngakho-ke, kuyadingeka njalo ukufakelwa izinso, lapho lesi sifo sesivele sithinte isitho ngendlela ebucayi kakhulu.

Kodwa-ke, lapho lesi sifo sikhona kwezinye izitho, ukufakelwa akuselaphi lesi sifo futhi, ngakho-ke, kungadingeka ukuqhubeka nokusebenzisa umuthi.

Ngaphezu kwalokho, ezinye izimpawu nezinkinga zidinga ukwelashwa okuqondile, njengesifo sikashukela noma ukuphazamiseka kwegilo, ukuze kuthuthukiswe izinga lokuphila lezingane.