I-Cystinuria iyisici esizuzwe njengefa ekuthathweni kabusha kwe-tubular kwe-amino acid, i-cystine, ngokukhuphuka kokuphuma komchamo kanye nokwakheka kwamatshe e-cystine emgudwini womchamo. Izimpawu zingase zibe yi-renal colic, ukutheleleka kwe-urinary tract, noma ukwehluleka kwezinso. Ukwelashwa kusekelwe ekwandeni kokuphuza uketshezi, ukujwayela ukudla, i-alkalinization yomchamo noma ngisho nokuthatha izidakamizwa zokuhlakaza i-cystine.

I-cystinuria yisifo sezinso esingajwayelekile esitholakala ngofuzo esidala ukuphuma ngokweqile kwe-cystine emchameni. Le amino acid, ayincibiliki kahle emchamweni, bese yenza amakristalu, ahlangana abe amatshe:

• ama-calyxes ezinso;
• ama-pyelons noma i-pelvis, okusho ukuthi izindawo lapho umchamo uqoqwa khona bese ukhishwa ezinso;
• ama-ureters, okuyimigudu emide, emincane ethwala umchamo usuka ezinso uye esinyeni;
• isinye ;
• i-urethra.

Ukwakheka kwalawa matshe e-cystine - noma i-lithiasis - kungaholela ekuguleni kwezinso ezingapheli.

Ukusabalala kwe-cystinuria kuyahlukahluka kakhulu ngokobuzwe, kusukela ku-1 ku-2 kubantu abangamaJuda baseLebanon - inani labantu abanemvamisa ephezulu kakhulu - kuya ku-500 ku-1 eSweden. Isilinganiso sokusabalala sesisonke silinganiselwa ku-100 kubantu abayi-000. Ngokuvamile amadoda athinteka kakhulu kunabesifazane.

I-cystinuria ibonakala kunoma yisiphi isikhathi. Amadoda avame ukugula kakhulu. Ukubonakala kwamatshe ezinso ngaphambi kweminyaka emithathu kuvame kakhulu kubafana. Izibalo zihlangene emazweni amabili ezimweni ezingaphezu kuka-75% futhi zivela ezimweni ezingaphezu kuka-60%, nemvamisa enkulu emadodeni. Nakuba ibala kuphela i-1 kuya ku-2% yamatshe abantu abadala, i-lithiasis yofuzo evamile, futhi inesibopho samatshe angaba ngu-10% wezingane.

I-cystinuria ibangelwa ukungahambi kahle okuzuzwe njengefa kwamashubhu ezinso, okuholela ekunciphiseni ukumuncwa kabusha kwe-cystine ye-tubular, kanye nokwanda kokuhlushwa kwe-cystine emchameni.

Kunezinhlobo ezimbili ezingavamile zofuzo ezibangela izimo eziningi ze-cystinuria:

• ukuguqulwa kwe-homozygous kofuzo lwe-SLC3A1 (2p21) okubandakanyeka kuhlobo A lwe-cystinuria;
• ukuguqulwa kwe-homozygous ku-SLC7A9 gene (19q13.11) ehilelekile ohlotsheni lwe-cystinuria B.

Lezi zakhi zofuzo zihlanganisa amaprotheni ahlangene akha i-heterodimer ebhekele ukuthuthwa kwe-cystine ku-proximal tubule. Ukungajwayelekile kunoma yiliphi kulawa maprotheni kubangela ukungasebenzi kahle kwe-transporter.

Ngenxa yokuthi lezi zakhi zofuzo ziyaphindaphindeka, abantu abanalesi sifo kumelwe ukuba bathole izakhi zofuzo ezimbili ezingavamile, eyodwa kumzali ngamunye. Umuntu onesakhi sofuzo esisodwa esingajwayelekile angakhipha i-cystine eningi kunejwayelekile emchamweni kodwa akwanele ukwakha amatshe e-cystine. Abukho ubudlelwano phakathi kwe-“genotype” (cystinuria A noma i-cystinuria B) kanye nokuba khona ngaphambi kwesikhathi noma ukuqina kwezimpawu.

Nakuba izimpawu ze-cystinuria zingavela ezinganeni, izimpawu zokuqala zivela ngaphambi kweminyaka engu-20 ezigulini ezingaba ngu-80%, futhi ngokwesilinganiso cishe iminyaka engu-12 emantombazaneni neminyaka engu-15 kubafana.

Ngokuvamile isibonakaliso sokuqala ubuhlungu obukhulu, obungafika ekuhlaselweni kwe "renal colic", okubangelwa i-spasm ye-ureter, endaweni lapho itshe livaliwe khona. Amatshe e-urinary tract nawo angabangela:

• ubuhlungu obungapheli obuphansi emuva noma besisu;
• i-hematuria, okungukuthi, ukuba khona kwegazi emchameni;
• ukuqedwa kwamatshe amancane emchameni (ikakhulukazi ezinsaneni).

Angase futhi abe indawo lapho amagciwane akha khona futhi abangele ukutheleleka komgudu womchamo noma, okungajwayelekile, ukwehluleka kwezinso.

Ezinganeni ezingavamile kakhulu, i-cystinuria ingase ihlotshaniswe nokungajwayelekile kwezinzwa njenge-neonatal hypotonia, isithuthwane, noma ukubambezeleka kokukhula. Lawa ama-syndromes ayinkimbinkimbi ngenxa "yokususwa", okusho ukuthi ukulahleka kwengxenye ye-DNA, ephethe izakhi zofuzo ezimbalwa ezixhumene nofuzo lwe-SLC3A1 ku-chromosome 2.

Ukwelashwa kwe-cystinuria kuhilela ukuvimbela ukwakheka kwamatshe e-cystine ngokugcina ukugxila okuphansi kwale amino acid emchameni.

Ukwanda kokuthatha uketshezi

Ngale njongo, umuntu kufanele aphuze inani loketshezi olwanele ukukhiqiza okungenani amalitha ama-3 kuya kwangu-4 omchamo ngosuku. Njengoba ingozi yokwakheka kwamatshe iphezulu ebusuku, ngoba awuphuzi futhi umchamo ukhiqizwa ngamanani amancane, kunconywa ukuthi uphuze uketshezi ngaphambi kokulala. Ezinsaneni, ukuphuza iziphuzo ebusuku kungase kudinge ukufakwa kweshubhu le-nasogastric noma i-gastrostomy.

Ukudla okuphansi kwamaprotheni nosawoti, nokudla okuphezulu kwe-alkalizing

Ukudla okuphansi kwe-methionine, isandulela se-cysteine, kwehlisa ukuphuma kwe-cystine yomchamo. I-Methionine iyi-amino acid ebalulekile, ngakho-ke ukususwa kwayo akunakwenzeka kodwa ukuthathwa kwayo kungase kube nomkhawulo. Kulokhu, kungumbuzo wokuqeda ukudla okucebile kakhulu ku-methionine njenge-cod omisiwe, inyama yehhashi noma i-crayfish ne-gruyere, nokunciphisa ukusetshenziswa kwenyama, inhlanzi, amaqanda ku-120-150 amagremu ngosuku. kanye noshizi. Ukudla okuphansi kwamaprotheni akukhuthazwa izingane kanye nentsha.

Ukwandisa ukudla okune-alkalizing njengamazambane, imifino eluhlaza noma enemibala, nobhanana, kanye nokudla okuncane kukasawoti kungasiza ekunciphiseni ukugcwala kwe-cystine emchameni. Eqinisweni, ukukhishwa komchamo we-sodium kwandisa i-cystine. Ngakho-ke, kwezinye iziguli, ukukhishwa kwe-cystine yomchamo kungase kwehle ngo-50% ngokunciphisa ukudla kwe-sodium ku-50 mmol / ngosuku.

Izidakamizwa ukuze alkalize umchamo

Njengoba i-cystine incibilika kalula ku-alkaline, okungukuthi, umchamo oyisisekelo kunomchamo one-asidi, kungase kunconywe, ukwenza umchamo ube ne-asidi encane futhi ngenxa yalokho kwandise ukuncibilika kwe-cystine, ngaleyo ndlela kuthathwe:

• amanzi ane-alkaline;
• 6 kuya ku-8 amagremu ngosuku lwe-potassium citrate ku-1,5 kuya ku-2 wamalitha amanzi;
• 8 kuya ku-16 amagremu ngosuku lwe-potassium bicarbonate ku-2 kuya ku-3 wamalitha amanzi;
• noma enye i-acetazolamide 5 mg/kg (kufika ku-250 mg) ngomlomo ngaphambi kokulala.

Imithi yokuncibilikisa i-cystine

Uma amatshe eqhubeka nokwakheka naphezu kwalezi zinyathelo, izidakamizwa ezilandelayo zinganikezwa:

• i-penicillamine (7,5 mg / kg ngomlomo izikhathi ezi-4 / ngosuku ezinganeni ezincane kanye ne-125 mg kuya ku-0,5 g ngomlomo izikhathi ezingu-4 / ngosuku ezinganeni ezindala);
• i-tiopronin (100 kuya ku-300 mg ngomlomo izikhathi ezi-4 / ngosuku);
• noma i-Captopril (0,3 mg / kg ngomlomo izikhathi ezi-3 / ngosuku).

Le mithi isabela nge-cystine futhi iyigcine isesimweni esiphindwe izikhathi ezingamashumi amahlanu ukuncibilika kune-cystine ngokwayo.

Ukuphathwa kwe-Urological

Ukuphathwa kwamatshe angahambi ngokuzenzakalelayo kudinga amasu e-urological ekwelapheni i-lithiasis. Udokotela womchamo angase asebenzise izinqubo ezincane kakhulu ezihlaselayo, kuye ngesimo ngasinye, njenge-ureterorenoscopy noma i-percutaneous nephrolithotomy.