Cystinosis le matšoao a bohlokoa ke eng

Litaba

• Matšoao a mantlha
• Cystinosis liphio
• Cystinosis mahlong
• Ke eng e bakang cystinosis
• Kalafo e etsoa joang

Cystinosis ke lefu la tlhaho leo 'mele o bokellang cystine e feteletseng, amino acid eo, ha e fetelletse ka har'a lisele, e hlahisang likristale tse thibelang ts'ebetso e nepahetseng ea lisele, ka hona, lefu lena le ka ama likarolo tse' maloa tsa 'mele , Ho aroloa ka mefuta e meraro e meholo:

• Nephropathic cystinosis: e ama liphio haholo mme e hlaha ka lesea, empa e ka fetoha le likarolo tse ling tsa 'mele tse kang mahlo;
• Cystinosis lipakeng: e ts'oana le nephropathic cystinosis empa e qala ho hola bocheng;
• Ocular cystinosis: ke mofuta o sa tebang haholo o fihlang mahlong feela.

Sena ke lefu la lefutso le ka fumanoang morotong le tekong ea mali e sa le lesea, e ka bang likhoeli tse tšeletseng. Batsoali le ngaka ea bana ba ka belaella lefu lena haeba lesea le lula le nyoriloe haholo, lea ntša metsi le ho hlatsa haholo mme le sa nona hantle, mme ho belaelloa lefu la Fanconi.

Matšoao a mantlha

Matšoao a cystinosis a fapana ho ea ka setho se amehileng, mme a kenyeletsa:

Cystinosis liphio

• Lenyora le eketsehang;
• Boikemisetso bo eketsehileng ba ho pee;
• Mokhathala o bonolo;
• Khatello ea mali e eketsehileng.

Cystinosis mahlong

• Bohloko mahlong;
• Ho ba le kutlo ho khanya;
• Ho thata ho bona, e ka bang bofofu.

Ntle le moo, ho ka hlaha matšoao a mang a kang bothata ba ho koenya, ho lieha ho hola, ho hlatsa khafetsa, ho sokela kapa mathata a kang lefu la tsoekere le liphetoho ts'ebetsong ea qoqotho.

Ke eng e bakang cystinosis

Cystinosis ke lefu le bakoang ke phetoho liphatseng tsa lefutso tsa CTNS, e ikarabellang bakeng sa tlhahiso ea protheine e tsejoang e le cystinosine. Protheine ena hangata e tlosa cystine liseleng tse kahare, e e thibela ho aha kahare.

Ha moaho ona o hlaha, lisele tse phetseng hantle li senyehile mme li hloleha ho sebetsa ka mokhoa o tloaelehileng, li senya setho kaofela ha nako e ntse e tsamaea.

Kalafo e etsoa joang

Kalafo hangata e etsoa ho tloha ha lefu le fumanoa, ho qala ka ts'ebeliso ea meriana, joalo ka cysteamine, e thusang 'mele ho tlosa tse ling tsa cystine e fetelletseng. Leha ho le joalo, ho ke ke ha khoneha ho thibela ka botlalo ts'oaetso ea lefu lena, ka hona, hangata ho hlokahala hore ho be le phetoho ea liphio, ha lefu lena le se le amme setho ka tsela e tebileng haholo.

Leha ho le joalo, ha lefu le le teng lithong tse ling, ho kenya 'mele ha ho phekole lefu lena, ka hona, ho kanna ha hlokahala hore o tsoele pele ho sebelisa meriana.

Ntle le moo, matšoao le mathata a mang a hloka kalafo e khethehileng, joalo ka lefu la tsoekere kapa mathata a qoqotho, molemong oa ho ntlafatsa bophelo ba bana.