Cystinosis ndi matenda obwera chifukwa cha chromosome 17 momwe amino acid cystine imatulutsidwa bwino kunja kwa maselo a thupi. Izi zimachititsa kuti thupi lonse liwonongeke. Zizindikiro za cystinosis zingayambe pa nthawi iliyonse, ndipo zimakhudza onse amuna ndi akazi a mafuko onse. Pali anthu okwana 2,000 okha omwe amadziwika ndi cystinosis padziko lapansi.
Geni ya cystinosis (CTNS) imatengera mwazidzidzimodzi. Izi zikutanthauza kuti kuti mwana adzalandire matendawa, makolo onse awiri ayenera kukhala atanyamula kachilombo ka CTNS, ndipo mwanayo ayenera kulandira makope awiri a jini lolakwika, limodzi kuchokera kwa kholo lililonse.
Zizindikiro
Zizindikiro za cystinosis zimasiyana malinga ndi mtundu wa matenda omwe alipo. Zizindikiro zikhoza kukhala zofatsa mpaka zovuta, ndipo zikhoza kupita patsogolo.
- Infantile nephropathic cystinosis - Iyi ndiyo njira yowopsa komanso yoopsa kwambiri ya cystinosis, momwe zizindikiro zimayambira ali wakhanda, nthawi zambiri asanakwane zaka 1 chaka. Ana omwe ali ndi mtundu uwu wa cystinosis nthawi zambiri amakhala ndifupikitsa, kusintha kwa retina (retinopathy), kukhudzidwa kwa kuwala (photophobia), kusanza, kusowa kwa kudya, ndi kudzimbidwa. Amakhalanso ndi ntchito yovuta ya impso yotchedwa Fanconi syndrome. Zizindikiro za matenda a Fanconi zimakhala ndi ludzu lalikulu (polydipsia), kukodza kwambiri (polyuria), ndi potaziyamu yotsika (hypokalemia).
- Kutha msinkhu (komwe kumatchedwanso pakati, achinyamata, kapena achinyamata) nephropathic cystinosis - Mu mawonekedwe awa, zizindikiro zambiri sizipezeka asanafike zaka 12, ndipo matendawa amapita pang'onopang'ono pakapita nthawi. Makandulo amphepete mwa khungu amapezeka mu cornea ndi conjunctiva ya diso komanso m'mafupa. Ntchito ya impso ndi yovuta, ndipo anthu omwe ali ndi mtundu uwu wa cystinosis angakhalenso ndi Fanconi syndrome.
- Munthu wamkulu (woipa kapena wosanephropathic) cystinosis - Mtundu uwu wa cystinosis umayamba ukalamba ndipo suli ndi vuto la impso. Makandulo amphepete amadzimadzi amadziwika mu cornea ndi chithunzi cha diso, komanso kumvetsetsa (photophobia) kulipo.
Kudziwa
Kuzindikira kwa cystinosis kumatsimikiziridwa poyeza kuchuluka kwa cystine m'magazi a magazi. Kuyezetsa magazi kwina kungayesetse kusamvetsetsana kwa potaziyamu ndi sodium, ndipo mlingo wa cystine mu mkodzo ukhoza kuyang'anitsidwa. Katswiri wa zamagetsi adzayang'anitsitsa maso a kusintha kwa cornea ndi retina. Pulogalamu yachitsulo (biopsy) ingayambidwe pogwiritsa ntchito microscope kwa makina a kansalu komanso kusintha kwa maonekedwe a maselo a impso ndi zomangamanga
Chithandizo
Mankhwala a cysteamine (Cystagon) amathandiza kuchotsa chiphuphu kuchokera m'thupi. Ngakhale sizingathetsere kuwonongeka kale, zingathandize kuchepetsa kapena kulepheretsa kuwonongeka kosachitika. Cysteamine ndi yopindulitsa kwambiri kwa anthu omwe ali ndi cystinosis, makamaka pamene ayamba msinkhu wa moyo. Anthu omwe ali ndi photophobia kapena zizindikiro zina za diso angagwiritse ntchito madontho a maso a cysteamine m'maso.
Chifukwa cha ntchito ya impso yovuta, ana ndi achinyamata omwe ali ndi cystinosis angatenge mchere wambiri monga sodium, potassium, bicarbonate, kapena phosphate, komanso vitamini D.
Ngati matenda a impso akupita m'kupita kwa nthawi, impso imodzi kapena ziwiri zikhoza kugwira bwino kapena ayi. Pachifukwa ichi, kupatsirana kwa impso kungafunike. Impso yoberekera siilimbana ndi cystinosis. Ana ambiri ndi achinyamata omwe ali ndi cystinosis amathandizidwa nthawi zonse kuchokera kwa mwana wamwamuna yemwe ali ndi matenda a impso.
Ana omwe ali ndi vuto lalikulu akhoza kulandira chithandizo cha ma hormone. Ana omwe ali ndi vuto la cystinosis akhoza kukhala ndi vuto lomeza, kusanza, kapena kupweteka m'mimba. Ana awa amafunika kuyesedwa ndi gastroenterologist ndipo angafunike mankhwala ena kapena mankhwala kuti athetse zizindikiro zawo.
> Zotsatira:
> Elenberg, E. (2003). Cystinosis. eMedicine.
> Bungwe la National for Disturbances Rare. Cystinosis
> Medline Plus. (2005). Matenda a Fanconi.