I-Cystinosis yi-disorder ezuzwe njenge-chromosome 17 lapho i-amino acid cystine engathunyelwa kahle ngaphandle kwamaseli omzimba. Lokhu kubangela umonakalo nomzimba emzimbeni wonke. Izimpawu ze-cystinosis zingaqala nganoma yisiphi isikhathi, futhi kuthinta kokubili abesilisa nabesifazane bazo zonke izinhlanga. Kukhona kuphela abantu abangaba ngu-2 000 abaziwayo abane-cystinosis emhlabeni.
Isakhi se-cystinosis (i-CTNS) sizuzwa njengefa ngokwezindlela zokuziphendulela ngokweqile . Lokhu kusho ukuthi ukuze ingane izuze i-disorder, bobabili abazali kufanele babe yizithwala zegciwane le-CTNS, futhi ingane kufanele izuze amakhophi amabili wegciwane elingalungile, elilodwa kumzali ngamunye.
Izimpawu
Izimpawu ze-cystinosis ziyahlukahluka kuye ngokuthi uhlobo luni lwesifo lukhona. Izimpawu zingase zibe phakathi komnene kuze kube nzima, futhi zingathuthuka ngokuhamba kwesikhathi.
- I-infantile nephropathic cystinosis - Lena yindlela ejwayelekile kunazo zonke futhi ehlukumeza kakhulu ye-cystinosis, lapho izimpawu ziqala khona ebuntwaneni, ngokuvamile ngaphambi kweminyaka engama-1. Izingane ezinalolu hlobo lwe-cystinosis zivame ukuba neziqu ezincane, izinguquko ku-retina (retinopathy), ukuzwela ekukhanyeni (photophobia), ukuhlanza, ukulahlekelwa ukudla, nokuqothulwa. Futhi baphinde bahlakulele umsebenzi wezinso okhubazekile owaziwa ngokuthi i-Fanconi syndrome. Izimpawu ze-Fanconi syndrome zihlanganisa ukoma ngokweqile (i-polydipsia), ukuvuthwa ngokweqile (polyuria), ne-potassium ephansi yegazi (hypokalemia).
- Ukuqala kwesikhathi esilandelayo (okubizwa nangokuthi okuphakathi, izingane, noma intsha) i-nephropathic cystinosis - Ngale fomu, izimpawu ngokuvamile azifundwa ngaphambi kweminyaka engu-12, futhi lesi sifo siqhubeka kancane kancane ngokuhamba kwesikhathi. Amakristalu e-Cystine akhona ku-cornea kanye ne-conjunctiva yeso nasemangeni lamathambo. Umsebenzi wezinso awunzima, futhi abantu abanefomu le-cystinosis nabo bangase bahlakulele i-Fanconi syndrome.
- Abantu abadala (benign noma nonnephropathic) cystinosis - Leli fomu le-cystinosis liqala ekukhuleni futhi alibanga ukukhubazeka kwezinso. Ama-crystals e-cystine aqoqa ku-cornea ne-conjunctiva iso, nokuzwela ekukhanyeni (photophobia) kukhona.
Ukuxilongwa
Ukuxilongwa kwe-cystinosis kuqinisekiswa ngokulinganisa izinga le-cystine emaqenjini egazi. Okunye ukuhlolwa kwegazi kungabheka ukungalingani kwe-potassium ne-sodium, futhi izinga le-cystine emcinini lingabhekwa. I-ophthalmologist izohlola amehlo okushintsha kwe-cornea ne-retina. Isampula sezinso zezinso (i-biopsy) singabuye sihlolwe ngaphansi kwe-microscope yamakhekhedi e-cystine kanye nezinguquko ezonakalisayo ezingqamuzaneni zezinso nezakhi
Ukwelapha
I-cysteamine yezidakamizwa (i-Cystagon) isiza ukuqeda isicathulo emzimbeni. Nakuba kungenakuguqula ukulimala okwenzile kakade, kungasiza ukuphuza noma ukuvimbela ukulimala okungeke kwenzeke. I-cysteamine inenzuzo kakhulu kubantu abanesifo se-cystinosis, ikakhulukazi lapho beqala ukuqala. Abantu abane-photophobia noma ezinye izibonakaliso zamehlo bangasebenzisa i-cysteamine iso lehla ngqo emehlweni.
Ngenxa yokusebenza kwezinso ezingasebenzi kahle, izingane nezinsana ezinama-cystinosis zingathatha izithako zamaminerali njenge-sodium, potassium, bicarbonate, noma i-phosphate, kanye ne-Vitamin D.
Uma isifo sezinso siqhubeka ngokuhamba kwesikhathi, izinso zombili noma zombili zingasebenza kahle noma cha. Kulokhu, ukufakelwa kwezinso kungadingeka. Izinso ezitshalweyo azithintekile yi-cystinosis. Iningi labantwana kanye nezinsana ezinesifo se-cystinosis zithola ukunakekelwa okuvamile kwesazi sezinsana zezingane (udokotela wezinso).
Izingane ezinenkinga yokukhula zingathola ukwelashwa kwe-hormone zokwelashwa. Izingane ezinezinhlobo ezincane ze-cystinosis zingase zibe nobunzima ngokugwinya, ukuhlanza noma ubuhlungu besisu. Lezi zingane kudingeka zihlolwe yi- gastroenterologist futhi zingadinga ukwelashwa okwengeziwe noma imithi yokulawula izimpawu zabo.
> Imithombo:
> Elenberg, E. (2003). I-Cystinosis. eMedicine.
> Inhlangano Kazwelonke Yezinkinga Ezinzima. I-Cystinosis
> Medline Plus. (2005). I-Fanconi's syndrome.