Cystinuria wani lahani ne na gado a cikin tubular reabsorption na amino acid, cystine, tare da ƙara fitar da fitsari da shi da samuwar duwatsun cystine a cikin fitsari. Alamomin cutar na iya zama kumburin koda, kamuwa da fitsari, ko gazawar koda. Magungunan yana dogara ne akan ƙaruwa na shan ruwa, daidaita yanayin abinci, alkalincin fitsari ko ma shan magunguna don narkar da cystine.

Cystinuria cuta ce da ba a saba ganin irinta ba wanda ke haifar da yawan fitar fitsari a cikin fitsari. Wannan amino acid, mai narkewa sosai a cikin fitsari, sannan yana samar da lu'ulu'u, waɗanda suka tara zuwa duwatsu a cikin:

• calyxes na kodan;
• pyelons ko ƙashin ƙugu, wato wuraren da ake tara fitsari sannan a fitar da su daga koda;
• ureters, wadanda su ne dogayen hanyoyin kunkuntar da ke fitar da fitsari daga koda zuwa mafitsara;
• mafitsara;
• fitsari.

Samuwar waɗannan duwatsun cystine - ko lithiasis - na iya haifar da cutar koda.

Yawan cystinuria ya bambanta ta hanyar ƙabila, daga 1 zuwa 2 a cikin yawan yahudawan Lebanon - yawan mutanen da ke da mafi yawan mita - zuwa 500 a 1 a Sweden. An kiyasta matsakaicin matsakaicin yawan mutane a cikin mutane 100 a cikin 000. Galibi maza sun fi mata illa.

Cystinuria yana bayyana kanta a kowane zamani. Maza sukan fi samun ciwo mai tsanani. Bayyanar duwatsun koda kafin shekaru uku yafi yawa a cikin samari. Lissafi biyu ne a cikin sama da kashi 75% na lokuta kuma suna sake faruwa sama da kashi 60% na lokuta, tare da yawaitar maza. Kodayake yana lissafin kawai 1 zuwa 2% na manyan duwatsu, shine lithiasis na kwayoyin halitta, kuma yana da alhakin kusan 10% na duwatsun yara.

Cystinuria yana faruwa ne sakamakon raunin gado na kumburin renal, wanda ke haifar da raguwar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar ƙwayar cuta.

Akwai abubuwan rashin lafiyar kwayoyin halitta guda biyu waɗanda ke haifar da mafi yawan lokuta na cystinuria:

• maye gurbi na homozygous na SLC3A1 gene (2p21) da ke cikin nau'in A cystinuria;
• maye gurbi homozygous a cikin SLC7A9 gene (19q13.11) da ke cikin nau'in B cystinuria.

Waɗannan ƙwayoyin halittar suna rikodin sunadarai waɗanda tare suke samar da heterodimer da ke da alhakin jigilar cystine a cikin tubule na kusa. Wani rashin daidaituwa a cikin ɗayan waɗannan sunadaran yana haifar da lalacewar mai jigilar kaya.

Saboda waɗannan kwayoyin halittun suna raguwa, mutanen da ke da wannan cutar dole ne su gaji kwayoyin halittar da ba ta dace ba, ɗaya daga kowane mahaifa. Mutumin da ke da mahaifa guda ɗaya kawai zai iya fitar da fiye da adadin cystine a cikin fitsari amma bai isa ya samar da duwatsun cystine ba. Babu dangantaka tsakanin “genotype” (cystinuria A ko cystinuria B) da precocity ko tsananin alamun.

Kodayake alamun cystinuria na iya bayyana a cikin jarirai, alamun farko suna bayyana kafin shekarun 20 a kusan 80% na marasa lafiya, kuma a matsakaita kusan shekaru 12 a cikin 'yan mata da shekaru 15 a samari.

Sau da yawa alamar farko ita ce zafi mai zafi, wanda zai iya kaiwa ga harin “kumburin koda”, wanda spasm na ureter ya haifar, a wurin da aka kulle dutse. Hakanan duwatsu na fitsari na iya haifar da:

• m ƙananan baya ko ciwon ciki;
• hematuria, wato kasancewar jini a cikin fitsari;
• kawar da kananan duwatsu a cikin fitsari (musamman a jarirai).

Hakanan zasu iya zama wurin da ƙwayoyin cuta ke ginawa da haifar da kamuwa da cutar urinary ko, mafi ƙarancin, gazawar koda.

A cikin ƙananan yara, cystinuria na iya kasancewa yana da alaƙa da cututtukan jijiyoyin jiki kamar su hypotonia neonatal, seizures, ko jinkirin haɓakawa. Waɗannan ƙwayoyin cuta ne masu rikitarwa saboda “gogewa”, wato asarar ɓarkewar DNA, ɗauke da ƙwayoyin halittu da yawa masu kama da SLC3A1 akan chromosome 2.

Jiyya na cystinuria ya ƙunshi hana samuwar duwatsun cystine ta hanyar riƙe ƙarancin ƙarancin wannan amino acid a cikin fitsari.

Ƙara yawan shan ruwa

Don wannan dalili, yakamata mutum ya sha adadin isasshen ruwa don samar da aƙalla lita 3 zuwa 4 na fitsari kowace rana. Da yake haɗarin samuwar dutse yana ƙaruwa da daddare, saboda ba ku sha kuma ana samar da fitsari a cikin adadi kaɗan, ana ba da shawarar ku sha ruwa kafin ku kwanta. A cikin jarirai, shan abin sha da daddare na iya buƙatar shigar da bututun nasogastric ko gastrostomy.

Abinci mai ƙarancin furotin da gishiri, kuma mai yawa a cikin abubuwan alkali

Abincin da ke da ƙarancin methionine, ƙaddarar cysteine, yana rage fitar fitsari na fitsari. Methionine muhimmin amino acid ne, don haka cire shi ba zai yiwu ba amma cinsa yana iyakancewa. Don wannan, tambaya ce ta kawar da abinci mai wadataccen methionine kamar busasshen kifi, naman doki ko ma kifi da gruyere, da iyakance cin nama, kifi, ƙwai zuwa gram 120-150 a kowace rana. da cheeses. Ba a ba da shawarar ƙarancin abincin furotin ga yara da matasa ba.

Ƙara yawan cin alkalizing abinci kamar dankali, koren ko kayan lambu masu launi, da ayaba, tare da ƙarancin cin gishiri kuma na iya taimakawa rage yawan cystine a cikin fitsari. A zahiri, fitar fitsari na sodium yana ƙaruwa da cystine. Don haka, a cikin wasu marasa lafiya, fitar fitsarin cystine na iya raguwa da kashi 50% ta hanyar rage yawan abincin sodium zuwa 50 mmol / rana.

Magunguna don alkalize fitsari

Tunda cystine yana narkewa cikin sauƙi a cikin alkaline, watau na asali, fitsari fiye da fitsarin acidic, ana iya ba da shawarar, don rage fitsari ƙasa da acidic sabili da haka ƙara narkar da cystine, don haka ɗaukar:

• ruwan alkaline;
• 6 zuwa 8 grams a kowace rana na potassium citrate a cikin 1,5 zuwa 2 lita na ruwa;
• 8 zuwa 16 grams a kowace rana na potassium bicarbonate a cikin lita 2 zuwa 3 na ruwa;
• ko kuma acetazolamide 5 mg / kg (har zuwa 250 MG) a baki lokacin kwanciya.

Magunguna don narkar da cystine

Idan duwatsu suka ci gaba da samuwa duk da waɗannan matakan, ana iya ba da magunguna masu zuwa:

• penicillamine (7,5 mg / kg baki sau 4 / rana a cikin ƙananan yara da 125 MG zuwa 0,5 g baki 4 sau / rana a cikin manyan yara);
• tiopronin (100 zuwa 300 MG baki sau 4 a rana);
• ko captopril (0,3 mg / kg baki sau 3 / rana).

Waɗannan magunguna suna amsawa tare da cystine kuma suna adana shi a cikin tsari har sau hamsin mai narkewa fiye da cystine kanta.

Gudanar da urological

Gudanar da duwatsu waɗanda basa tafiya kwatsam suna buƙatar dabarun urological don maganin lithiasis. Likitan ilimin urologist na iya amfani da mafi ƙarancin hanyoyin ɓarna, gwargwadon kowane yanayi, kamar ureterorenoscopy ko nephrolithotomy percutaneous.