I-Cystinosis yintlupheko yefa ye-chromosome 17 apho i-amino acid cystine ayihambiswanga kakuhle ngaphandle kweeseli zomzimba. Oku kubangela umonakalo nomzimba kumzimba wonke. Iimpawu ze-cystinosis zingaqala nanini na ubudala, kwaye zichaphazela bonke abesilisa nabesifazane bazo zonke iintlanga. Kukho kuphela abantu abayi-2 000 abaziwa ngabantu abane-cystinosis ehlabathini.
Umzimba we-cystinosis (CTNS) uzuze ilifa ngendlela ehamba phambili yokuzimela . Oku kuthetha ukuba ukuze umntwana azuze ilifa, abazali bobabini bamele baphathe isithwaba se-CTNS, kwaye umntwana kufuneka azuze iikopi ezimbini ze-gene defective, omnye kumzali ngamnye.
Iimpawu
Iimpawu ze-cystinosis ziyahluka ngohlobo luni lwesifo esikhoyo. Iimpawu zingaphuma kwi-mild to the severe, kwaye ziyakwazi ukuqhubela phambili kwixesha.
- Infantile nephropathic cystinosis - Le yindlela exhaphakileyo kunye neyona inzima kakhulu ye-cystinosis, apho iimpawu ziqala ukususela ebuntwaneni, kaninzi ngaphambi kweminyaka engama-1. Abantwana abanolu hlobo lwe-cystinosis banamaxesha atshanje, utshintsho kwi-retina (retinopathy), uvakalelo ekukhanyeni (photophobia), ukuhlanza, ukulahleka kwesidlo kunye nokuqhaqha. Baphinde bahlakulele umsebenzi wezintso ezikhubazekile obizwa ngokuba yiFanconi syndrome. Iimpawu zeFanconi syndrome zibandakanya ukoma okuninzi (i-polydipsia), ukucoka ngokweqile (polyuria), kunye ne-potassium ephantsi (hypokalemia).
- Ukuza kuhamba emva kwesikhathi (okubizwa ngokuba ngumphakathi, iintsana, okanye i-adolescent) nephropathic cystinosis - Ngale fom, impawu ngokuqhelekileyo azifumaneki phambi kweminyaka eyi-12 ubudala, kwaye isifo sifana ngokukhawuleza ngokuhamba kwesikhathi. I-crystals ye-cystine ikhona kwi-cornea kunye ne-conjunctiva yeso kunye nasentolongeni yethambo. Umsebenzi weezintso unzima, kwaye abantu abaneli fomu ye-cystinosis banokuphuhlisa i-Fanconi syndrome.
- Umntu omdala (onobungozi okanye ongeyenayephropathic) i-cystinosis - Le ndlela ye-cystinosis iqala xa ikhulile kwaye ingabangela ukukhubazeka kweengqondo. I-crystals ye-cystine iqokelela kwi-cornea kunye ne-conjunctiva yelihlo, kunye novelwano ekukhanyeni (photophobia) lukhona.
Ukuxilongwa
Ukuxilongwa kwe-cystinosis kuqinisekiswa ngokulinganisa izinga le-cystine kwiiseli zegazi. Ezinye iimvavanyo zegazi zingabhekisela ukungalingani kwi-potassium kunye ne-sodium, kwaye inqanaba le-cystine kumchamo lingahlolwa. I-ophthalmologist iza kuhlola amehlo ekutshintsheni kwi-cornea kunye ne-retina. Isampula seesistim (i-biopsy) yeesistim singayihlolwa phantsi kwe-microscope yama-crystals kunye neenguqu ezonakalisayo kwiiseli zezintso kunye nezakhiwo
Unyango
I-cysteamine (iCystagon) isisiphumo sinceda ukuphelisa i-cystine emzimbeni. Nangona ayikwazi ukubuyisela umonakalo osele uyenziwe, unokuncedisa ukukhawuleza okanye ukukhusela umonakalo omkhulu ongenzekiyo. I-cysteamine inenzuzo kakhulu kubantu abane-cystinosis, ngakumbi xa beqala ukuqala ebomini. Abantu abaneefotophobia okanye ezinye iimpawu zamehlo bangasebenzisa i-cysteamine iliso lihla ngqo emehlweni.
Ngenxa yokusebenza kwengqondo ephosakeleyo, abantwana kunye nabaselula kunye ne-cystinosis bangathatha izongezelelo zamaminerali ezifana ne-sodium, i-potassium, i-bicarbonate, okanye i-phosphate, kunye ne-Vitamin D.
Ukuba isifo sezintso siphucula ngokuhamba kwexesha, inye okanye zombini iintso zingasebenza ngokungafanelekanga okanye kungekhona. Kule meko, ukutshintshwa kweengtso kunokufuneka. Intso ehlonyelweyo ayichaphazeleka yi-cystinosis. Uninzi lwabantwana kunye nabaselula kunye ne-cystinosis banakekelwa rhoqo kwi-nephrologist yezilwanyana (ugqirha wezilwanyana).
Abantwana abanenkinga yokukhula bangafumana unyango lwe-hormone. Abantwana abanesimo esincinci se-cystinosis banokuba nobunzima bokugwinya, ukuhlanza okanye isisu esiswini. Aba bantwana kufuneka bahlolwe yi- gastroenterologist kwaye bangadinga unyango olongezelelweyo okanye imithi yokulawula iimpawu zabo.
> Imithombo:
> Elenberg, E. (2003). Cystinosis. eMedicine.
> I-National Organisation for Disorder Disorders. Cystinosis
> Medline Plus. (2005). Isifo sikaFanconi.