ICystinuria

-Delile

• Ziyini izimpawu ze-cystinuria?
• Yini ebangela i-cystinuria?
• Ngubani osengozini ye-cystinuria?
• I-cystinuria itholakala kanjani?
• Ukuqoqwa komchamo wamahora angama-24
• I-pyelogram efakwa ngaphakathi
• Iskena se-CT esiswini
• Ukuhlolwa komchamo
• Yiziphi izinkinga ze-cystinuria?
• I-cystinuria iphathwa kanjani? | Ukwelashwa
• Izinguquko zokudla
• Ukulungisa ibhalansi ye-pH
• Imithi
• Ukuhlinzwa
• Uyini umbono wesikhathi eside?
• I-cystinuria ingavinjelwa kanjani?

Yini i-cystinuria?

ICystinuria yisifo esizuzwe njengefa esidala ukuthi amatshe enziwe nge-amino acid cystine akhe ezinso, esinyeni nasesibayeni. Izifo ezizuzwe njengefa zidluliselwa zisuka kubazali ziye ezinganeni ngokusebenzisa ukukhubazeka kwezakhi zofuzo. Ukuthola i-cystinuria, umuntu kufanele azuze ifa lesici kubazali bobabili.

Ukukhubazeka kofuzo kubangela ukuba i-cystine iqoqane ngaphakathi ezinso, okuyizitho ezisiza ukulawula okungena nokuphuma egazini lakho. Izinso zinemisebenzi eminingi, kufaka phakathi:

• ukubuyisela kabusha amaminerali abalulekile namaprotheni abuyele emzimbeni
• ukuhlunga igazi ukuze kususwe imfucumfucu enobuthi
• ukukhiqiza umchamo wokukhipha imfucuza emzimbeni

Kumuntu one-cystinuria, i-amino acid cystine iyakha futhi yakhe amatshe esikhundleni sokubuyela egazini. La matshe angabambeka ezinso, esinyeni, nasezindundeni. Lokhu kungaba buhlungu kakhulu kuze kube yilapho amatshe edlula ekuchameni. Kungase kudingeke ukuthi kususwe amatshe amakhulu kakhulu.

Amatshe angabuya kaningi. Ukwelashwa kuyatholakala ukuphatha izinhlungu nokuvikela amatshe amaningi ekwakhekeni.

Ziyini izimpawu ze-cystinuria?

Yize i-cystinuria iyisimo sempilo yonke, izimpawu zivame ukuvela kubantu abadala, ngokusho kocwaningo lwe-European Journal of Urology. Kube nezimo ezingavamile ezinganeni nasezinsheni. Izimpawu zingafaka:

• igazi emchameni
• ubuhlungu obukhulu ohlangothini noma emuva, cishe njalo ohlangothini olulodwa
• isicanucanu nokuhlanza
• ubuhlungu obusondele emgodini, okhalweni, noma esiswini

ICystinuria ayinalutho, okusho ukuthi ayibangeli zimpawu, lapho kungekho amatshe. Kodwa-ke, izimpawu zizovela njalo lapho amatshe akha ezinso. Amatshe avame ukwenzeka kaningi.

Yini ebangela i-cystinuria?

Amaphutha, abizwa nangokuthi ukuguquka kwezakhi zofuzo, kuzakhi zofuzo SLC3A1 futhi SLC7A9 kubangele i-cystinuria. Lezi zofuzo zinikela ngemiyalo emzimbeni wakho ukuze yenze iprotheni ethile yokuhambisa etholakala ezinso. Le protein ivame ukulawula ukubuyiselwa kabusha kwama-amino acid athile.

Ama-amino acid akhiwa lapho umzimba ugaya futhi uqhekeze amaprotheni. Zisetshenziselwa ukwenza imisebenzi ehlukahlukene yomzimba, ngakho-ke zibalulekile emzimbeni wakho futhi azithathwa njengezimoshayo. Ngakho-ke, lapho la ma-amino acid engena ezinso, ngokuvamile amuncwa abuyele egazini. Kubantu abane-cystinuria, ukukhubazeka kofuzo kuthikameza amandla weprotein yokuhambisa kabusha ama-amino acid.

Enye yama-amino acid - i-cystine - ayincibiliki kakhulu emchameni. Uma ingabuyiswanga kabusha, izoqongelela ngaphakathi kwezinso bese yakha amakristalu, noma amatshe e-cystine. Amatshe alukhuni abese enamathela ezinso, esinyeni, nasezindundeni. Lokhu kungaba buhlungu kakhulu.

Ngubani osengozini ye-cystinuria?

Usengozini yokuthola i-cystinuria kuphela uma abazali bakho benesici esithile esakhiweni sabo esidala lesi sifo. Futhi, uthola lesi sifo kuphela uma uzuza ifa lesici kubazali bakho bobabili. ICystinuria yenzeka cishe koyedwa kubantu abayi-10 000 emhlabeni jikelele, ngakho-ke akuvamile.

I-cystinuria itholakala kanjani?

I-cystinuria ivame ukutholakala lapho othile ehlangabezana nesiqephu samatshe ezinso. Ukuxilongwa bese kwenziwa ngokuhlola amatshe ukubona ukuthi ngabe enziwe nge-cystine. Kuyaqabukela ukuhlolwa kofuzo kwenziwa. Ukuhlolwa okwengeziwe kokuhlola kungafaka okulandelayo:

Ukuqoqwa komchamo wamahora angama-24

Uzocelwa ukuthi uqoqe umchamo wakho esitsheni phakathi nosuku lonke. Umchamo uzobe usuthunyelwa elabhorethri uyohlolwa.

I-pyelogram efakwa ngaphakathi

Ukuhlolwa kwe-X-ray kwezinso, isinye, nama-ureters, le ndlela isebenzisa udayi osegazini ukusiza ukubona amatshe.

Iskena se-CT esiswini

Lolu hlobo lwe-CT scan lisebenzisa ama-X-ray ukwakha izithombe zezakhiwo ngaphakathi esiswini ukubheka amatshe ngaphakathi ezinso.

Ukuhlolwa komchamo

Lokhu wukuhlolwa komchamo elabhorethri okungafaka ukubheka umbala nokubukeka komzimba komchamo, ukubuka umchamo ngaphansi kwesibonakhulu, nokwenza izivivinyo zamakhemikhali ukuthola izinto ezithile, njenge-cystine.

Yiziphi izinkinga ze-cystinuria?

Uma ingalashwa kahle, i-cystinuria ingaba buhlungu kakhulu futhi ingaholela ezinkingeni ezinkulu. Lezi zinkinga zifaka:

• ukulimala kwezinso noma isinye etsheni
• izifo zomgudu womchamo
• izifo zezinso
• ukuvinjelwa kwe-ureteral, ukuvinjelwa kwe-ureter, ishubhu elikhipha umchamo ezinso liye esinyeni

I-cystinuria iphathwa kanjani? | Ukwelashwa

Izinguquko ekudleni kwakho, emithini, nasekuhlinzeni yizinketho zokwelapha amatshe akha ngenxa ye-cystinuria.

Izinguquko zokudla

Ukwehlisa ukutholakala kukasawoti kube ngaphansi kwamagremu ama-2 ngosuku nakho kukhonjisiwe ukuthi kuyasiza ekuvimbeleni ukwakheka kwamatshe, ngokusho kocwaningo kwi-European Journal of Urology.

Ukulungisa ibhalansi ye-pH

I-cystine incibilika kakhulu emchameni ku-pH ephakeme, okuyisilinganiso sendlela into ene-asidi noma eyisisekelo ngayo. Ama-alkalinizing agents, njenge-potassium citrate noma i-acetazolamide, azokwandisa i-pH yomchamo ukwenza i-cystine incibilike kakhulu. Eminye imithi ene-alkalinizing ingathengwa ngaphezulu kwekhawunta. Kufanele ukhulume nodokotela wakho ngaphambi kokuthatha noma yiluphi uhlobo lwesengezo.

Imithi

Imithi eyaziwa ngokuthi ama-chelating agents izosiza ukuncibilikisa amakristalu e-cystine. Le mithi isebenza ngokuhlanganiswa ngamakhemikhali ne-cystine ukwakha okuyinkimbinkimbi okungabe sekuqedwa emchameni. Izibonelo zifaka phakathi i-D-penicillamine ne-alpha-mercaptopropionylglycine. I-D-penicillamine iyasebenza, kepha inemiphumela emibi eminingi.

Imithi yezinhlungu nayo ingabekwa ukulawula izinhlungu ngenkathi amatshe edlula esinyeni nasemzimbeni.

Ukuhlinzwa

Uma amatshe emakhulu kakhulu futhi ebuhlungu, noma evimba elinye lamashubhu aphuma ezinso, kungadingeka ukuthi asuswe ngokuhlinzwa. Kunezinhlobo ezimbalwa ezahlukahlukene zokuhlinzwa ukuze kuqedwe ngamatshe. Lokhu kufaka phakathi izinqubo ezilandelayo:

• Igagasi lokushaqeka elingaphandle lithotripsy (ESWLLe nqubo isebenzisa amagagasi ashaqisayo ukuhlephula amatshe amakhulu abe yizicucu ezincane. Akusebenzi kahle amatshe e-cystine njengezinye izinhlobo zamatshe ezinso.
• I-nephrostolithotomy enamandla (noma nephrolithotomy): Le nqubo ifaka ukudlulisa ithuluzi elikhethekile esikhunjeni sakho nasezinsweni zakho ukukhipha amatshe noma ukuwahlukanisa.

Uyini umbono wesikhathi eside?

ICystinuria yisimo sempilo yonke esingalawulwa ngempumelelo ngokwelashwa. Amatshe avela kakhulu kubantu abadala abangaphansi kweminyaka engama-40 futhi kungenzeka ukuthi avele kaningi ngeminyaka.

ICystinuria ayithinti ezinye izitho zomzimba. Isimo akuvamile ukuthi siholele ekuhlulekeni kwezinso. Ukwakhiwa kwamatshe njalo okwenza ukuvinjelwa, nezinqubo zokuhlinzwa ezingadingeka ngenxa yalokho, zingathinta ukusebenza kwezinso ngokuhamba kwesikhathi, ngokusho kweRare Diseases Network.

I-cystinuria ingavinjelwa kanjani?

ICystinuria ayinakuvinjelwa uma bobabili abazali bephethe ikhophi yokukhubazeka kofuzo. Kodwa-ke, ukuphuza amanzi amaningi, ukunciphisa ukudla kwakho kasawoti, nokuphuza imithi kungasiza ekuvimbeleni amatshe ukuba akhe ezinso.