Menene cystinosis da manyan alamun

Wadatacce

• Babban bayyanar cututtuka
• Cystinosis a cikin kodan
• Cystinosis a cikin idanu
• Abin da ke haifar da cystinosis
• Yadda ake yin maganin

Cystinosis cuta ce ta cikin gida wanda jiki ke tara cystine mai yawa, amino acid wanda idan ya wuce gona da iri a cikin ƙwayoyin halitta, yakan samar da lu'ulu'u wanda yake hana daidaituwar ƙwayoyin aiki, sabili da haka, wannan cuta na iya shafar gabobin jiki da yawa , ana raba shi zuwa manyan nau'ikan 3:

• Nephropathic cystinosis: yafi shafar koda kuma ya bayyana a cikin jariri, amma zai iya canzawa zuwa wasu sassan jiki kamar idanu;
• Matsakaiciyar cystinosis: yana kama da nephropathic cystinosis amma ya fara haɓaka yayin samartaka;
• Cystinosis na gani: shi ne nau'ikan da ba shi da nauyi wanda ya isa ga idanu kawai.

Wannan cuta ce ta kwayar halitta wacce za'a iya ganowa a cikin fitsari da gwajin jini a matsayin jariri, kusan watanni 6 da haihuwa. Iyaye da likitan yara na iya tsammanin cutar idan jariri koyaushe yana jin ƙishirwa sosai, yana yin fitsari da amai da yawa kuma baya samun nauyi sosai, tare da zargin Fanconi.

Babban bayyanar cututtuka

Kwayar cututtukan cystinosis sun bambanta gwargwadon gabobin da suka kamu, kuma suna iya haɗawa da:

Cystinosis a cikin kodan

• Thirstara ƙishirwa;
• Willingara shirye don yin fitsari;
• Sauki gajiya;
• Pressureara karfin jini.

Cystinosis a cikin idanu

• Jin zafi a cikin idanu;
• Sensitivity zuwa haske;
• Wahalar gani, wanda zai iya zama makanta.

Bugu da ƙari, wasu alamun kamar wahalar haɗiye, jinkirin haɓaka, yawan amai, maƙarƙashiya ko rikitarwa irin su ciwon sukari da canje-canje a aikin aikin ƙyamar, alal misali, na iya bayyana.

Abin da ke haifar da cystinosis

Cystinosis cuta ce da ta haifar da maye gurbi a cikin kwayar CTNS, wanda ke da alhakin samar da furotin da aka sani da cystinosine. Wannan furotin yawanci yana cire cystine daga cikin ƙwayoyin, yana hana shi haɓaka ciki.

Lokacin da wannan haɓakawa ta auku, ƙwayoyin rai masu lafiya sun lalace kuma sun kasa yin aiki yadda ya kamata, suna lalata gabban gabban lokaci.

Yadda ake yin maganin

Maganin galibi ana yin sa ne daga lokacin da aka gano cutar, ana farawa da amfani da magunguna, kamar su cysteamine, wanda ke taimakawa jiki don kawar da wasu ƙwayoyin cuta masu yawa. Koyaya, ba zai yuwu a hana gabaɗaya ci gaban cutar ba kuma, sabili da haka, galibi ana buƙatar yin dashen koda, lokacin da cutar ta riga ta shafi ɓangaren ta hanya mai tsanani.

Koyaya, lokacin da cutar ta kasance a cikin wasu gabobin, dasawa ba ta warkar da cutar kuma, sabili da haka, yana iya zama dole a ci gaba da amfani da maganin.

Bugu da kari, wasu alamomi da rikitarwa na bukatar takamaiman magani, kamar su ciwon suga ko cutar tairori, don inganta rayuwar yara.