ICystinuria

Umxholo

• Ziintoni iimpawu zecystinuria?
• Yintoni ebangela icystinuria?
• Ngubani osemngciphekweni wecystinuria?
• I-cystinuria ifunyaniswa njani?
• Ukuqokelela umchamo iiyure ezingama-24
• Ipiramidi efakwa ngaphakathi
• Ukuskena kwe-CT esiswini
• Uhlalutyo lomchamo
• Zeziphi iingxaki zecystinuria?
• I-cystinuria iphathwa njani? | Unyango
• Utshintsho kwizidlo
• Ukulungelelanisa ibhalansi ye-pH
• Amayeza
• Ugqirha
• Ithini imbono yexesha elide?
• I-cystinuria inokuthintelwa njani?

Yintoni icystinuria?

I-cystinuria sisifo esizuzwe njengelifa esibangela amatye enziwe nge-amino acid cystine ukuba ayenze kwizintso, isinyi kunye ne-ureters. Izifo ezizuzwe njengelifa zidluliselwa zisuka kubazali ziye ebantwaneni ngenxa yesiphene kwimfuza yabo. Ukufumana icystinuria, umntu kufuneka azuze ilifa isiphako kubo bobabini abazali.

Isiphene kwimfuza sibangela ukuba icystine iqokeleleke ngaphakathi kwizintso, ezingamalungu anceda ekulawuleni into engenayo nephuma kwigazi lakho. Izintso zinemisebenzi emininzi, kubandakanya:

• ukubuyisela kwakhona iiminerali ezifanelekileyo kunye neeproteni emzimbeni
• Ukucoca igazi ukususa inkunkuma enetyhefu
• ukuvelisa umchamo ukukhupha inkunkuma emzimbeni

Kumntu one-cystinuria, i-amino acid cystine iyakha kwaye yenze amatye endaweni yokubuyela kwigazi. La matye anokuxinga kwizintso, isinyi kunye ne-ureters. Oku kunokuba buhlungu kakhulu de amatye adlule ekuchameni. Amatye amakhulu kakhulu anokufuna ukuba asuswe ngotyando.

Amatye anokuphindaphinda amatyeli amaninzi. Unyango luyafumaneka ukulawula iintlungu kunye nokuthintela amatye amaninzi ekubunzeni.

Ziintoni iimpawu zecystinuria?

Nangona i-cystinuria yimeko yobomi bonke, iimpawu zihlala zikhona kubantu abadala abancinci, ngokophando kwi I-European Journal ye-Urology. Kukho iimeko ezinqabileyo kwiintsana nakwishumi elivisayo. Iimpawu zingabandakanya:

• igazi kumchamo
• iintlungu eziqatha kwicala okanye ngasemva, phantse njalo kwicala elinye
• isicaphucaphu nokugabha
• iintlungu kufutshane ne-groin, i-pelvis, okanye isisu

ICystinuria yi-asymptomatic, ethetha ukuba ayibangeli zimpawu, xa kungekho matye. Nangona kunjalo, iimpawu ziya kuphinda zivele ngalo lonke ixesha ukwakheka kwamatye kwizintso. Amatye aqhele ukwenzeka ngaphezu kwesinye.

Yintoni ebangela icystinuria?

Iziphene, ezibizwa ngokuba ziinguqulelo, kwiijethi I-SLC3A1 kwaye I-SLC7A9 unobangela wecystinuria. Ezi zofuzo zibonelela ngemiyalelo yomzimba wakho yokwenza iprotein yokuhambisa ethile efumaneka kwizintso. Le protein ihlala ilawula ukubuyiselwa kwakhona kwee-amino acid ezithile.

Ii-amino acid zenziwa xa umzimba usetyisa kwaye wophula iiproteni. Zisetyenziselwa ukwenza imisebenzi eyahlukeneyo yomzimba, ngenxa yoko zibalulekile emzimbeni wakho kwaye azithathwa njengenkunkuma. Ke ngoko, xa ezi amino acid zingena kwizintso, zihlala ziphinde zibuye zibuyele egazini. Kubantu abane-cystinuria, isiphene semfuza siphazamisa amandla okuhambisa iprotein yokubuyisela i-amino acid.

Enye yeeamino acid - icystine - ayinyibiliki kakhulu kumchamo. Ukuba ayifakwanga kwakhona, iya kuqokelela ngaphakathi kwizintso kwaye yenze iikristali, okanye amatye e-cystine. Amatye alukhuni emva koko ayaxinga kwizintso, isinyi kunye ne-ureters. Oku kunokuba buhlungu kakhulu.

Ngubani osemngciphekweni wecystinuria?

Usemngciphekweni wokufumana i-cystinuria kuphela xa abazali bakho benesiphene kwimfuza yabo ebangela esi sifo. Kananjalo, usifumana kuphela esi sifo ukuba usifumana ilifa lesiphene kubazali bakho bobabini. I-Cystinuria yenzeka malunga ne-1 kubo bonke abantu abayi-10,000 emhlabeni jikelele, ngoko ke kunqabile.

I-cystinuria ifunyaniswa njani?

I-cystinuria ihlala ichongwa xa umntu efumana isiqendu samatye ezintso. Uxilongo lwenziwa ngokuvavanya amatye ukujonga ukuba enziwe ngecystine. Kunqabile ukuba kwenziwe uvavanyo lwemfuzo. Uvavanyo olongezelelweyo lokuqonda isifo lunokubandakanya oku kulandelayo:

Ukuqokelela umchamo iiyure ezingama-24

Uya kucelwa ukuba uqokelele umchamo wakho kwisitya kwisithuba semini yonke. Umchamo uya kuthunyelwa elabhoratri ukuze uhlalutye.

Ipiramidi efakwa ngaphakathi

Uvavanyo lwe-X-ray lwezintso, isinyi, kunye ne-ureters, le ndlela isebenzisa idayi egazini ukunceda ukubona amatye.

Ukuskena kwe-CT esiswini

Olu hlobo lwe-CT scan lusebenzisa i-X-ray ukwenza imifanekiso yezakhiwo ngaphakathi esiswini ukukhangela amatye ngaphakathi kwizintso.

Uhlalutyo lomchamo

Olu luvavanyo lomchamo elabhoratri olunokubandakanya ukujonga umbala kunye nokubonakala komchamo, ukujonga umchamo phantsi kwemicroscope, kunye nokwenza iimvavanyo zekhemikhali ukufumanisa izinto ezithile, ezinjengecystine.

Zeziphi iingxaki zecystinuria?

Ukuba ayinyangwa kakuhle, icystinuria inokuba buhlungu kakhulu kwaye inokubangela iingxaki ezinzulu. Ezi ngxaki zibandakanya:

• umonakalo wezintso okanye wesinyi kwilitye
• usulelo lomchamo
• usulelo lwezintso
• isithintelo se-ureteral, ukuvaleka kwe-ureter, ityhubhu ekhupha umchamo kwizintso ukuya kwisinyi

I-cystinuria iphathwa njani? | Unyango

Utshintsho kwindlela otya ngayo, amayeza, kunye notyando lukhetho lokunyanga amatye enza ngenxa yecystinuria.

Utshintsho kwizidlo

Ukunciphisa ityuwa engaphantsi kwe-2 gram ngemini ikwabonakalisiwe iluncedo ekuthinteleni ukwenziwa kwamatye, ngokophando kwi-European Journal ye-Urology.

Ukulungelelanisa ibhalansi ye-pH

I-cystine inyibilika ngakumbi kumchamo kwi-pH ephezulu, elingumlinganiselo wendlela i-asidi okanye into esisiseko ngayo. Iiarhente zealkalinizing, ezinje nge potassium citrate okanye iacetazolamide, ziyakwandisa i-pH yomchamo ukwenza icystine inyibilike ngakumbi. Amanye amayeza ealkalinizing anokuthengwa ekhawuntarini. Kuya kufuneka uthethe nogqirha wakho ngaphambi kokuba uthathe naluphi na uhlobo lokongezwa.

Amayeza

Amayeza abizwa ngokuba zii-arhente zokukopa aya kunceda ekunyibilikiseni iikristale. La machiza asebenza ngokudibanisa imichiza kunye necystine ukwenza into enokuthi inyibilike kumchamo. Imizekelo ibandakanya i-D-penicillamine kunye ne-alpha-mercaptopropionylglycine. I-D-penicillamine iyasebenza, kodwa ineziphumo ebezingalindelekanga ezininzi.

Amayeza eentlungu anokumiselwa ukulawula iintlungu ngelixa amatye edlula kwisinyi nangaphandle komzimba.

Ugqirha

Ukuba amatye makhulu kwaye abuhlungu, okanye avimbe enye yeetyhubhu ezikhokelela kwizintso, banokufuna ukususwa ngotyando. Kukho iintlobo ezahlukeneyo zotyando ukuze kuqhekezwe amatye. Oku kubandakanya le nkqubo ilandelayo:

• Umothuko wangaphandle lithotripsy (ESWLLe nkqubo isebenzisa amaza othusayo ukuze aqhekeze amatye amakhulu abe ziingceba ezincinci. Ayisebenzi njengamatye e-cystine njengakwezinye iintlobo zamatye ezintso.
• I-nephrostolithotomy yamandla (okanye nephrolithotomy): Le nkqubo ibandakanya ukugqithisa isixhobo esikhethekileyo kulusu lwakho nakwizintso zakho ukukhupha amatye okanye uwaqhekeze.

Ithini imbono yexesha elide?

ICystinuria yimeko yobomi bonke enokuthi ilawulwe ngokufanelekileyo ngonyango. Amatye avela ngokuxhaphakileyo kubantu abadala abancinci abangaphantsi kweminyaka engama-40 kwaye angenzeka kancinci rhoqo ngeminyaka.

ICystinuria ayichaphazeli nawaphi na amanye amalungu omzimba. Le meko kunqabile ukuba ibangele ukusilela kwezintso. Ukwenziwa kwamatye rhoqo kubangela ukuvaleka, kwaye iinkqubo zotyando ezinokufuneka njengesiphumo, zinokuchaphazela ukusebenza kwezintso ngokuhamba kwexesha, ngokweNethiwekhi yezifo eziNqabileyo.

I-cystinuria inokuthintelwa njani?

ICystinuria ayinakuthintelwa ukuba bobabini abazali baphethe ikopi yesiphene semfuza. Nangona kunjalo, ukusela isixa esikhulu samanzi, ukunciphisa ukutya kwakho ityuwa, kunye nokuthatha amayeza kunokunceda ukuthintela amatye ukuba angabikho kwizintso.