Cystinosis chirwere chinokonzerwa nekromosome 17 umo iyo amino acid cystine haina kutorwa zvakanaka kunze kwemasero emuviri. Izvi zvinokonzera kukanganisa kwomuviri uye nhengo mumuviri wose. Zviratidzo zve cystinosis zvinotangira chero ipi zvayo, uye zvinokanganisa vose varume nevakadzi vemarudzi ose. Kune vanhu vanenge 2 000 vanozivikanwa ne cystinosis munyika.
Iro gene ye cystinosis (CTNS) inotora nhaka muzvigadziro zvisinganzwisisiki . Izvi zvinoreva kuti kuitira kuti mwana ave nhaka nhaka, vabereki vose vanofanira kuva vatakuri veCCTNS gene, uye mwana anofanira kupiwa mairi maviri emapfumi asina kukwana, mumwe kubva kumubereki mumwe nomumwe.
Zviratidzo
Zviratidzo zve cystinosis zvakasiyana zvichienderana nehupi hwechirwere chiripo. Zviratidzo zvinogona kubva pane zvinyoro kusvikira zvakanyanya, uye zvinogona kufambira mberi kwenguva.
- Infantile nephropathic cystinosis - Iyi ndiyo inonyanya kuoma uye yakaoma kwazvo ye cystinosis, umo zviratidzo zvinotanga mucheche, kakawanda vasati vava nemakore 1 gore. Vana vane rudzi urwu rwe cystinosis kazhinji vane nguva shoma, kuchinja mune retina (retinopathy), kunzwisiswa kwechiedza (photophobia), kurutsa, kurasikirwa kwechido, uye kuvimbiswa. Vanowedzerawo hutano husina simba hunozivikanwa seFanconi syndrome. Zviratidzo zveFanconi syndrome zvinosanganisira nyota yakawanda (polydipsia), kunyanya kunyura (polyuria), uye pasi pedasium (hypokalemia).
- Nguva inotevera-inonzi (inonziwo pakati, vana vechidiki, kana vechidiki) nephropathic cystinosis - Mune chimiro ichi, zviratidzo zvinowanzoonekwa zvisati zvava nemakore gumi nemaviri, uye chirwere ichi chinopfuurira zvishoma nezvishoma. Tsamba dzemakristani dziripo mu cornea uye conjunctiva yeziso uye mumapfupa emapfupa. Basa repyiyo harina simba, uye vanhu vane chirongwa ichi che cystinosis vanogonawo kukura Fanconi syndrome.
- Munhu mukuru (bheninini kana kuti nonnephropathic) cystinosis - Iyi yejstinosis inotanga mukukura uye haigumisi kupora kwepfungwa. Tsamba dzemakristani dzinounganidza mumakoreni uye conjunctiva yeziso, uye kunzwisisa kune chiedza (photophobia) chiripo.
Kuziva
Kuongororwa kwe cystinosis kunosimbiswa nekuyera kuenzana kwecstine mumasero eropa. Mimwe miedzo yeropa inogona kutarisa kusaenzana mu potassium uye sodium, uye urwere hwekrisini mumuguta inogona kuongororwa. An ophthalmologist achaongorora maziso ekuchinja kune cornea uye retina. Imwe yenzvo yenzvo (biopsy) inogona kuongororwa pasi microscope yekristini yekristini uye yekuchinja kunoparadza kune mainso masero uye zvivako
Kurapa
Izvozvo zvinodhaka cysteamine (Cystagon) zvinobatsira kubvisa krisini kubva mumuviri. Kunyange zvazvo isingagoni kudzosera kukanganisa kakatoitwa, kunogona kubatsira kunonoka kana kudzivirira zvimwe kukuvara kunenge kuchiitika. Cysteamine inobatsira zvikuru kune vanhu vane cystinosis, kunyanya pavakatanga pakutanga kweupenyu. Vanhu vane photophobia kana zvimwe zviratidzo zveziso zvinogona kushandisa cysteamine madonhwe emeso kumeso.
Nemhaka yekushaya simba kwepfungwa, vana nevechiri kuyaruka vane cystinosis vanogona kutora mineral supplement monga sodium, potassium, bicarbonate, kana phosphate, uyewo Vitamin D.
Kana chirwere chetsvo chinopfuurira mberi kwechinguva, imwe kana mafyvo ose angashanda zvakanaka kana kwete zvachose. Muchiitiko ichi, kupora kwetsvo kunogona kudiwa. Iyo mafungiro akawedzerwa haatambudziki ne cystinosis. Vana vakawanda nevechiri kuyaruka vane cystinosis vanowanzochengetwa kubva kuchipatara chemwana (kidney doctor).
Vana vane kuoma kukura vanogona kuwana kukura kwehomoni. Vana vane chirwere chinonzi cystinosis vanogona kuoma nekugomera, kurutsa, kana kurwadziwa mumimba. Vana ava vanofanira kuongororwa ne gastroenterologist uye vangada kurapa mimwe kana mishonga yekudzivirira zviratidzo zvavo.
> Sources:
> Elenberg, E. (2003). Cystinosis. eMedicine.
> National Organisation for Rare Disorders. Cystinosis
> Medline Plus. (2005). Fanconi's syndrome.