Cystinosis ne cuta mai ciwo na chromosome 17 wanda ba'a ɗauke da cystine amino acid yadda ya dace daga jikin jikin. Wannan yana haifar da lalata nama da kwayar jiki a ko'ina cikin jiki. Kwayoyin cututtuka na cystinosis zai iya farawa a kowane zamani, kuma yana shafi maza da mata na kowane kabila. Akwai kimanin mutane 2,000 da aka sani da cystinosis a duniya.
Hanya don cystinosis (CTNS) an gaji ne a cikin wani tsari na kwance . Wannan yana nufin cewa domin yaro ya sami gado, dole ne iyaye su kasance masu ɗaukar nauyin CTNS, kuma yaron dole ne ya sami kofe guda biyu na mahaifa maras kyau, ɗaya daga kowane iyaye.
Cutar cututtuka
Alamar cututtuka na cystinosis ya bambanta dangane da irin nauyin cutar yake a yanzu. Kwayar cututtuka na iya kasancewa daga m zuwa mai tsanani, kuma suna iya ci gaba a cikin lokaci.
- Tsarin cystinosis nephropathic mai ban mamaki - Wannan shine mafi yawan kwayar cutar cystinosis , wanda bayyanar cututtuka ta fara a jariri, sau da yawa kafin shekaru 1. Yara da irin wannan cystinosis sau da yawa suna da ɗan gajeren lokaci, canje-canje a cikin retina (retinopathy), ƙwarewa ga haske (photophobia), vomiting, asarar ci abinci, da maƙarƙashiya. Sun kuma haifar da rashin aikin kwarewa wanda ake kira Fanconi syndrome. Hanyoyin cututtuka na ciwon Fanconi sun hada da ƙishirwa da yawa (polydipsia), urination mai yawa (polyuria), da jinin jini (hypokalemia).
- Maimaitawa (wanda ake kira matsakaici, yara, ko yarinya) cystinosis nephropathic - A cikin wannan tsari, ba a gano alamar cututtuka kafin shekaru 12, kuma cutar ta cigaba da hankali a tsawon lokaci. Cristal cystine sun kasance a cikin caca da conjunctiva na idanu da cikin kasusuwa. Ayyukan koda ya lalace, kuma mutane da wannan nau'i na cystinosis zasu iya ci gaba da ciwo na Fanconi.
- Adult (benign ko nonnephropathic) cystinosis - Wannan nau'i na cystinosis fara a cikin girma kuma ba ya haifar da rashin lafiya koda. Cristal na tsakiya suna tarawa a cikin caca da kuma conjunctiva na idanu, da kuma lura da haske (photophobia).
Sanin asali
Ana tabbatar da ganewar kwayar cutar cystinosis ta hanyar auna ma'auni na cystine a cikin kwayoyin jini. Wasu gwaje-gwaje na jini na iya duba ƙwayoyin da ke cikin potassium da sodium, kuma matakin karfin cystine a cikin fitsari za'a iya dubawa. Wani masanin binciken likita zai bincika idanu don canje-canje ga layin da kuma tarin. Ana iya nazarin samfurin kwayoyin kwayoyin (biopsy) a karkashin wani microscope don crystals na cystine kuma don canje-canje masu lalacewa ga kwayoyin koda da tsarin
Jiyya
Cysteamine miyagun kwayoyi (Cystagon) yana taimakawa wajen kawar da kwayar jini daga jiki. Ko da yake ba zai iya warware lalacewar da aka rigaya ya yi ba, zai iya taimakawa jinkirin ko hana kara lalacewa daga faruwa. Cysteamine yana da amfani ƙwarai ga mutane tare da cystinosis, musamman lokacin da fara farkon rayuwa. Mutum tare da kyamarar hoto ko wasu bayyanar cututtuka na iya amfani da gashin cysteamine ya sauko tsaye zuwa idanu.
Saboda rashin aikin koda, yara da matasa da cystinosis zasu iya daukar nauyin ma'adinai irin su sodium, potassium, bicarbonate, ko phosphate, da Vitamin D.
Idan ƙwayar cutar ta ci gaba a kan lokaci, ɗaya ko biyu kodan iya aiki cikin talauci ko a'a. A wannan yanayin, ana iya buƙatar kaya na koda. A kudancin kodaya ba a shafi cystinosis ba. Yawancin yara da matasa da cystinosis suna karɓar kulawa ta yau da kullum daga likitancin likitancin yara (likitan koda).
Yara da ke fama da wahala suna iya karɓar maganin hormone. Yara da nau'in nakasa na cystinosis na iya samun wahala tare da haɗiye, vomiting, ko ciwo na ciki. Wadannan yara suna buƙatar a gwada su ta hanyar gastroenterologist kuma zasu buƙaci ƙarin magani ko magunguna don sarrafa su bayyanar cututtuka.
> Sources:
> Elenberg, E. (2003). Cystinosis. eMedicine.
> Ƙungiyar Ƙungiya ta Ƙananan Raunuka. Cystinosis
> Ƙarin Madauki. (2005). Fanconi ta ciwo.