I-cystinuria

Ubuwazi ukuthi imizimba yabanye abantu ayikwazi ukucubungula ama-amino acid athile ngendlela efanele? Kunjalo nge-cystinuria, isimo sofuzo esingajwayelekile esithinta indlela izinso ezisebenza ngayo. I-Cystinuria idala i-amino acid eningi kakhulu ebizwa ngokuthi i-cystine ukuthi iqoqeke emchamweni. Lokhu kungaholela ezinso ezibuhlungu kanye nezinye izinkinga zempilo. Ukuqonda i-cystinuria kubalulekile kulabo abanayo nemindeni yabo. Lesi sihloko sizohlola ukuthi iyini i-cystinuria nokuthi iwuthinta kanjani umzimba. Sizobheka izimbangela zayo, izimpawu, nezici zobungozi. Sizophinde sixoxe ngokuthi odokotela baxilonga kanjani isifo se-cystinuria kanye nokwelashwa okutholakalayo. 

Iyini i-cystinuria?

I-cystinuria yisifo sofuzo esingajwayelekile esithinta indlela izinso ezisebenza ngayo ama-amino acid athile. Idala inani eliningi le-cystine ukwakheka emchameni. Lesi simo senzeka cishe kumuntu oyedwa kwabayi-7,000 kuya ku-10,000 emhlabeni jikelele.

Ku-cystinuria, umzimba awukwazi ukumunca kahle i-cystine namanye ama-amino acid asuka emchameni abuyele egazini. Ngenxa yalokho, amazinga e-cystine emchameni aphakama kakhulu. Ngenxa yokuthi i-cystine ayincibiliki kalula, yenza amakristalu namatshe ezinso, esinyeni, noma ipheshana lomchamo. Nakuba abanye abantu abane-cystinuria bengase bangawakhi amatshe, abanye bangase bathole ukwakheka kwamatshe njalo.

Izinkinga ze-cystinuria

I-cystinuria yisifo sofuzo esithinta indlela izinso ezisebenza ngayo ama-amino acid athile. Ukuguqulwa kwezakhi zofuzo ezimbili kuyayibangela: i-SLC3A1 ne-SLC7A9. Lezi zakhi zofuzo zinikeza imiyalelo yokwenza izingxenye zeprotheyini eyinkimbinkimbi etholakala ezinso. Le nkimbinkimbi ngokuvamile ilawula ukumuncwa kabusha kwama-amino acid, okuhlanganisa ne-cystine, esuka emchameni iye egazini.

Uma izinguquko zenzeka kunoma iyiphi yalezi zakhi zofuzo, ziphazamisa ikhono leprotein complex lokumunca kabusha ama-amino acid. Lokhu kuholela emazingeni aphezulu e-cystine emchameni.

I-cystine iyi-amino acid engancibiliki kakhulu kuwo wonke ama-amino acid abalulekile, ngakho ayincibiliki kalula. Njengoba amazinga e-cystine ekhuphuka emchameni, amakristalu akheka, okuholela ekuthuthukisweni kwamatshe.

I-cystinuria itholakala ngamaphethini ahlukene kuye ngokuthi i-gene ehilelekile. Ukuguqulwa kwe-SLC3A1 kulandela iphethini ye-autosomal recessive, kuyilapho ukuguqulwa kwe-SLC7A9 kungabhekwa njengokubusa kwe-autosomal nokungena okungaphelele.

Izimpawu ze-cystinuria

I-cystinuria ngokwayo ayibangeli izimpawu. Kodwa-ke, lapho amatshe e-cystine akha, angaholela ezindabeni ezahlukahlukene, njenge:

• Ubuhlungu obubukhali ohlangothini noma emuva, ngokuvamile ohlangothini olulodwa 
• Ubuhlungu bungase buphumele ngasesinqeni 
• Ubuhlungu eduze kwe-pelvis noma isisu
• Igazi emchameni
• Ubuhlungu ngenkathi uchama
• Isicanucanu noma oluhlanzayo

Amatshe e-cystine ngokuvamile makhulu kunamanye amatshe ezinso, okungaholela ezinkingeni ezifana nokutheleleka komgudu womchamo. Lawa matshe angase abonakale njengamakristalu angama-hexagonal ansundu ngokuphuzi emchameni. Kuyaphawuleka ukuthi cishe amaphesenti angu-80 abantu abane-cystinuria banetshe labo lokuqala ngaphambi kokuba babe neminyaka engu-20. Imvelo ephindaphindiwe yalawa matshe ingaba nomthelela omkhulu empilweni yomuntu.

Izingozi Zezingozi

Lesi simo sitholakala kubo bobabili abazali, okwenza umlando womndeni ube yisici esiyingozi esiyingozi. Izici ezahlukahlukene zingandisa ingozi ye-cystinuria, njenge: 

• Ubulili: Abesilisa ngokuvamile bathinteka kakhulu kunabesifazane, baba nenani elikhulu lamatshe. 
• Ubudala: Isikhathi esiphezulu setshe le-cystine sokuqala siyiminyaka engaba ngu-22, kodwa cishe ama-22% eziguli aqala ukwakha amatshe ebuntwaneni. 
• Ezinye izici eziyingozi ze-cystine crystallization zihlanganisa umchamo ophansi pH, amandla e-ion ancishisiwe, ukuba khona kwamakristalu e-cystine, namazinga aphansi ama-macromolecules womchamo.

Izinkinga ze-cystinuria

I-cystinuria inomthelela omkhulu empilweni yomuntu futhi ingaholela ezinkingeni ezinkulu uma ingalawulwa kahle, njenge: 

• Amatshe ezinso
• Isifo sezinso ezingapheli 
• Izifo zomgudu womchamo kanye izifo zezinso 
• Kwezinye izimo, amatshe e-cystine angavimba i-ureters, amashubhu athwala umchamo usuka ezinso uye esinyeni. Lokhu kuvinjelwa kungaba buhlungu kakhulu futhi kungase kudinge usizo lwezokwelapha ngokushesha. 
• Nakuba kungavamile, isifo sezinso sokuphela kwesigaba senzeka ngaphansi kuka-5% weziguli ze-cystinuria.

Ukuxilongwa kwe-cystinuria

Ukuxilongwa kwe-cystinuria kuqala ngokusola komtholampilo, ikakhulukazi ezinganeni ezinamatshe ezinso. Odokotela bangase basole i-cystinuria ezigulini ezinomlando womndeni noma lezo ezibhekene nesifo esinzima samatshe, okuhlanganisa amatshe ezinso aphindaphindayo noma amabili.

Kusetshenziswa izindlela eziningana ukuze kuqinisekiswe ukuxilongwa, njenge: 

• Ukuhlaziywa kwamatshe kuyisilinganiso segolide esijwayelekile sokuxilonga se-cystinuria, njengoba kungaveza ubukhona be-cystine. 
• Ukuhlolwa kwe-Microscopic yesampula yomchamo wasekuseni ekuseni kungase kubonise amakristalu angama-hexagonal, acace kakhulu ku-cystinuria. 
• I-renal ultrasounds ukuthola amatshe ngaphakathi kwezinso 
• Ukuhlolwa komchamo okujwayelekile kwamahora angama-24 ukukala izinga le-cystine
• Ukuhlolwa kwe-sodium-nitroprusside kusebenza njengethuluzi lokuhlola lokuqala, umchamo ube nsomi lapho kukhona amazinga aphezulu e-cystine. Kodwa-ke, lokhu kuhlolwa kungaveza amaphuzu angamanga, ngakho imiphumela emihle idinga ukuqinisekiswa ngokuhlaziywa kwe-chromatographic yomchamo wokukhipha i-cystine.

Ukwelashwa kwe-cystinuria

Ukwelashwa kwe-cystinuria kugxile ekuvimbeleni ukwakheka kwamatshe nokuphatha amatshe akhona. 

• Izinyathelo zokulondoloza:
  • Indlela eyinhloko ihilela ukwandisa uketshezi lokuphuza ukuze kuhlanjululwe umchamo futhi kunciphise ukugxila kwe-cystine. Iziguli zelulekwa ukuthi ziphuze okungenani amalitha angu-3-4 amanzi nsuku zonke, kuhlanganise nasebusuku. 
  • Ukuguqulwa kokudla kudlala indima ebalulekile, ngezincomo zokunciphisa ukudla kwamaprotheni e-sodium nezilwane. 
• Ukulinganisa kwe-pH:
  • I-alkalisation yomchamo kungenye isu elibalulekile, okuhloswe ngayo ukuphakamisa umchamo we-pH ku-7.0-7.5 kusetshenziswa i-potassium citrate. 
• Imithi:
  • Uma lezi zinyathelo zokuvikela zihluleka, odokotela bangase banikeze imithi esekelwe ku-thiol. Lezi zidakamizwa zibopha ku-cystine, zenze izinhlanganisela ezincibilikayo. 
• Ukuhlinzwa:
  • Ukungenelela kokuhlinzwa kucatshangelwa amatshe amakhulu noma avimbelayo, nge-ureteroscopy kanye ne-laser lithotripsy ekhethwa ngaphezu kwe-thotripsy ye-wave shock ngenxa yokumelana kwamatshe e-cystine ekuqhekekeni.

Uzoyibona Nini Udokotela

Uma uzwa ubuhlungu obubukhali emhlane wakho ophansi noma ohlangothini lwesisu, ngokushesha thintana nodokotela wakho. Lezi zimpawu zingase zibonise ukuba khona kwe-cystinuria. Ezinye izimpawu ezidinga ukunakekelwa kwezempilo zihlanganisa: 

• Igazi emchameni
• Kunzima ukuchama
• Izifo zomgudu womchamo njalo. 
• Abantu abanomlando womndeni we-cystinuria noma labo abake baba namatshe ezinso besebancane kufanele bafune iseluleko sezokwelapha. Ukuhlolwa njalo kubalulekile kubantu abane-cystinuria ukuze baqaphe ukukhiqizwa kwamatshe nokusebenza kwezinso. 

Ukuvimbela

Nakuba i-cystinuria ingenakuvinjelwa, kunezindlela zokunciphisa ingozi yokwakheka kwamatshe.

• Ukwenyusa umthamo wamanzi kubalulekile, kuhloswe ukuthi okungenani kube amalitha ama-3 omchamo ophumayo nsuku zonke. Lokhu kusiza ukunciphisa umchamo futhi kunciphise ukugxila kwe-cystine. 
• Ukunciphisa ukudla kwe-sodium kuze kube ngaphansi kwamagremu angu-2 ngosuku nakho kungasiza, njengoba ukusetshenziswa kukasawoti omningi kwandisa ukuphuma kwe-cystine. 
• Ukusetshenziswa kokudla okuphansi kweprotheyini etholakala esilwaneni kunciphisa i-acidity yomchamo. 
• Ukusebenzisa iziphuzo ezine-alkalinising njenge-lemonade nejusi yewolintshi kungasiza ukuphakamisa umchamo we-pH. 
• Ukuqapha njalo amandla adonsela phansi aqondene nomchamo kanye ne-pH kubalulekile. 

Isiphetho

I-cystinuria yisimo sofuzo esiyinkimbinkimbi esithinta kakhulu ukusebenza kwezinso kanye nempilo yonke. Lesi sifo esingavamile sibangela ukunqwabelana ngokweqile kwe-cystine emchameni, okuholela ekwakhekeni kwamatshe ezinso ezibuhlungu. Ukuqonda izimbangela, izimpawu, kanye nokwelashwa okutholakalayo kubalulekile kulabo abathintekayo yi-cystinuria nemindeni yabo ukuze balawule lesi simo ngempumelelo.

Ukuphila ne-cystinuria kudinga ukunakekelwa okuqhubekayo kanye nokulungiswa kwendlela yokuphila. Ngokwandisa uketshezi, ukuguqula ukudla, nokulandela iseluleko sezokwelapha, abantu abane-cystinuria banganciphisa ingozi yokwakheka kwamatshe futhi bavimbele izinkinga. Ukuhlolwa njalo nokuqapha kubalulekile ukuze kugcinwe impilo yezinso kanye nezinga lempilo. Ngokuphathwa okufanele nokusekelwa, abantu abane-cystinuria bangaphila izimpilo ezigculisayo ngisho nezinselele ezilethwa yilesi simo.

FAQ sika

1. Ubani osengozini ye-cystinuria?

I-cystinuria yisifo esitholakala ngofuzo esithinta cishe oyedwa kwabangu-7,000 kuya kwabangu-10,000 emhlabeni wonke. Labo abanomlando womndeni walesi simo basengozini enkulu. Bobabili abazali kufanele baphathe isakhi sofuzo esinesici ukuze ingane ithuthukise i-cystinuria. Ngokuvamile amadoda athinteka kakhulu kunabesifazane, abhekana nenani elikhulu lamatshe.

2. Yikuphi ukushoda kwe-enzyme okubangela i-cystinuria?

Ukuntuleka kwe-enzyme akubangeli i-cystinuria. Kubangelwa ukuguqulwa kwezakhi zofuzo ze-SLC3A1 ne-SLC7A9, ezithinta ukumuncwa kabusha kwezinso kwe-cystine namanye ama-amino acid. Lokhu kuholela ekuphumeni ngokweqile kwe-cystine emchameni.

3. Kuyini ukuhlolwa kwe-cystinuria?

I-cystinuria ivame ukutholakala ngokuhlaziywa kwamatshe, ukuhlolwa okuncane komchamo kumakristalu angama-hexagonal, noma ukukalwa kwenani lamazinga e-cystine yomchamo. Ukuhlolwa kwe-sodium-nitroprusside kuyasiza njengethuluzi lokuhlola lokuqala. Ukuhlolwa kofuzo nakho kuyatholakala kodwa akuvamile ukusetshenziswa.

4. I-cystinuria iba neminyaka emingaki?

Izimpawu ze-cystinuria zivame ukuqala phakathi kweminyaka eyi-10 nengama-30, ngeminyaka emaphakathi yokuqala cishe iminyaka eyi-16. Kodwa-ke, cishe i-22% yeziguli ziqala ukwakha amatshe ebuntwaneni. Isikhathi esiphezulu setshe lokuqala le-cystine sineminyaka engama-22 ubudala.

5. Yikuphi ukudla okusiza i-cystinuria?

Ukudla okuphansi kwe-sodium neprotheni etholakala ezilwaneni kungasiza ekulawuleni i-cystinuria. Ukwengeza uketshezi okungena ngalo kubalulekile ukuze kuhlanjululwe umchamo futhi kunciphise ukugcwala kwe-cystine. Ukudla okune-alkalizing njengezithelo nemifino kungase kube yinzuzo. Kunconywa ukunciphisa ukudla okune-methionine ephezulu njengezinhlanzi, izinkukhu, inyama namaqanda. 

CARE Medical Team