Cystinuria

Zamkati

• Zizindikiro za cystinuria ndi ziti?
• Kodi chimayambitsa cystinuria ndi chiyani?
• Ndani ali pachiwopsezo cha cystinuria?
• Kodi cystinuria imapezeka bwanji?
• Kutola mkodzo kwa maola 24
• Pyelogram yolowera
• M'mimba mwa CT scan
• Kupenda kwamadzi
• Kodi zovuta za cystinuria ndi ziti?
• Kodi cystinuria imachiritsidwa bwanji? | Chithandizo
• Kusintha kwa zakudya
• Kusintha pH bwino
• Mankhwala
• Opaleshoni
• Kodi chiyembekezo chanthawi yayitali ndichotani?
• Kodi cystinuria ingapewe bwanji?

Kodi cystinuria ndi chiyani?

Cystinuria ndi matenda obadwa nawo omwe amachititsa miyala yopangidwa ndi amino acid cystine kupanga mu impso, chikhodzodzo, ndi ureters. Matenda obadwa nawo amapatsira kuchokera kwa makolo kupita kwa ana kudzera mu vuto m'matenda awo. Kuti munthu apeze cystinuria, ayenera kulandira cholakwacho kuchokera kwa makolo onse awiri.

Kulephera kwa jini kumapangitsa kuti mtsempha uzituluka mkati mwa impso, zomwe ndi ziwalo zomwe zimathandizira kuwongolera zomwe zimalowa ndikutuluka m'magazi anu. Impso zili ndi ntchito zambiri, kuphatikizapo:

• Kubwezeretsanso mchere ndi mapuloteni ofunikira mthupi
• kusefa magazi kuchotsa zinyalala zapoizoni
• kutulutsa mkodzo kutulutsa zinyalala mthupi

Mwa wina yemwe ali ndi cystinuria, amino acid cystine imamangirira ndikupanga miyala m'malo mongobwerera m'magazi. Miyala iyi imatha kulowa mu impso, chikhodzodzo, ndi ureters. Izi zitha kukhala zopweteka kwambiri mpaka miyala itadutsa pokodza. Miyala yayikulu kwambiri imafunika kuchotsedwa opaleshoni.

Miyala imatha kubwereranso kangapo. Mankhwala alipo kuti athetse ululu komanso kupewa miyala yambiri kuti isapangidwe.

Zizindikiro za cystinuria ndi ziti?

Ngakhale cystinuria imakhalapo kwa moyo wonse, zizindikiro zimayamba kupezeka mwa achinyamata, malinga ndi kafukufuku mu European Journal of Urology. Pakhala pali zochitika zosowa mwa makanda ndi achinyamata. Zizindikirozi zitha kuphatikiza:

• magazi mkodzo
• kupweteka kwambiri m'mbali kapena kumbuyo, pafupifupi nthawi zonse mbali imodzi
• nseru ndi kusanza
• ululu pafupi ndi kubuula, m'chiuno, kapena pamimba

Cystinuria ndi asymptomatic, kutanthauza kuti sizimayambitsa zisonyezo, pomwe kulibe miyala. Komabe, zizindikirazo zimachitika nthawi iliyonse pamene miyala imayamba mu impso. Miyala imapezeka kangapo kamodzi.

Kodi chimayambitsa cystinuria ndi chiyani?

Zowonongeka, zomwe zimatchedwanso kusintha kwa majini SLC3A1 ndipo SLC7A9 chifukwa cystinuria. Mitundu imeneyi imapereka malangizo kwa thupi lanu kuti apange puloteni yotumiza yomwe imapezeka mu impso. Puloteniyi imayang'anira kubwezeretsanso kwa ma amino acid.

Ma amino acid amapangidwa thupi likagaya ndikuphwanya mapuloteni. Amagwiritsidwa ntchito pochita ntchito zosiyanasiyana za thupi, choncho ndizofunikira mthupi lanu ndipo sizitengedwa ngati zowononga. Chifukwa chake, amino acid awa akamalowa mu impso, nthawi zambiri amalowanso m'magazi. Mwa anthu omwe ali ndi cystinuria, vuto la chibadwa limasokoneza mapuloteni onyamula kuti athe kubwezeretsanso ma amino acid.

Chimodzi mwa amino acid - cystine - sichimasungunuka kwambiri mumkodzo. Ngati sichikubwezeretsedwanso, chimadzikundikira mkati mwa impso ndikupanga makhiristo, kapena miyala ya cystine. Mwala wolimba kwambiriwo umakanirira mu impso, chikhodzodzo, ndi ureters. Izi zingakhale zopweteka kwambiri.

Ndani ali pachiwopsezo cha cystinuria?

Muli pachiwopsezo chotenga cystinuria pokhapokha makolo anu ali ndi vuto linalake lomwe limayambitsa matendawa. Komanso, mumangopeza matendawa ngati mungatenge cholakwika kuchokera kwa makolo anu onse. Cystinuria imapezeka pafupifupi 1 mwa anthu 10,000 padziko lonse lapansi, motero ndizosowa kwenikweni.

Kodi cystinuria imapezeka bwanji?

Cystinuria nthawi zambiri amapezeka ngati wina akukumana ndi vuto la impso. Matendawa amapangidwa poyesa miyala kuti awone ngati apangidwa ndi cystine. Kawirikawiri kuyezetsa majini kumachitika. Kuyesanso kowunikira kungaphatikizepo izi:

Kutola mkodzo kwa maola 24

Mudzafunsidwa kuti musonkhanitse mkodzo wanu mchidebe tsiku lonse. Mkodzo udzatumizidwa ku labotale kuti akaunike.

Pyelogram yolowera

Kupenda X-ray kwa impso, chikhodzodzo, ndi ureters, njirayi imagwiritsa ntchito utoto m'magazi kuthandiza kuwona miyala.

M'mimba mwa CT scan

Mtundu wa CT scan umagwiritsa ntchito ma X-ray kuti apange zithunzi zamkati mwa mimba kufunafuna miyala mkati mwa impso.

Kupenda kwamadzi

Uku ndikuwunika mkodzo mu labotale komwe kungaphatikizepo kuyang'ana mtundu ndi mawonekedwe a mkodzo, kuwona mkodzo pansi pa microscope, ndikuyesa mayeso amankhwala kuti mupeze zinthu zina, monga cystine.

Kodi zovuta za cystinuria ndi ziti?

Cystinuria itha kukhala yopweteka kwambiri ndipo imatha kubweretsa zovuta zina. Mavutowa ndi awa:

• impso kapena chikhodzodzo ku mwala
• matenda opatsirana mumkodzo
• matenda a impso
• kutsekeka kwa ureteral, kutsekeka kwa ureter, chubu chomwe chimatulutsa mkodzo kuchokera ku impso kupita m'chikhodzodzo

Kodi cystinuria imachiritsidwa bwanji? | Chithandizo

Kusintha kwa zakudya zanu, mankhwala, ndi opaleshoni ndizo njira zothandizira miyala yomwe imakhalapo chifukwa cha cystinuria.

Kusintha kwa zakudya

Kuchepetsa kumwa mchere pang'ono mpaka magalamu awiri patsiku kwawonetsedwanso kuti ndikothandiza popewa kupanga miyala, malinga ndi kafukufuku ku European Journal of Urology.

Kusintha pH bwino

Cystine imasungunuka kwambiri mumkodzo pa pH yayikulu, yomwe ndiyeso ya momwe acidic kapena chinthu choyambirira chilili. Mankhwala a alkalinizing, monga potaziyamu citrate kapena acetazolamide, amachulukitsa pH ya mkodzo kuti cystine isungunuke kwambiri. Mankhwala ena a alkalinizing atha kugulidwa pa kauntala. Muyenera kulankhula ndi dokotala musanadye mtundu uliwonse wa zowonjezera.

Mankhwala

Mankhwala otchedwa chelating agents amathandizira kupukuta timibulu ta cystine. Mankhwalawa amagwira ntchito pophatikiza mankhwala ndi cystine kuti apange zovuta zomwe zimatha kusungunuka mkodzo. Zitsanzo ndi D-penicillamine ndi alpha-mercaptopropionylglycine. D-penicillamine ndiwothandiza, koma imakhala ndi zovuta zambiri.

Mankhwala opweteka amatha kuperekedwanso kuti athetse ululu pamene miyala imadutsa chikhodzodzo ndi kunja kwa thupi.

Opaleshoni

Ngati miyala ndi yayikulu kwambiri komanso yopweteka, kapena kutseka imodzi mwa machubu ochokera ku impso, angafunike kuchotsedwa opaleshoni. Pali mitundu ingapo ya maopaleshoni kuti athane ndi miyala. Izi ndi izi:

• Zowopsa zakunja ziphuphu (ESWL.)) Njirayi imagwiritsa ntchito mafunde osokoneza miyala ikuluikulu. Sizothandiza pamiyala ya cystine monga mitundu ina ya miyala ya impso.
• Percutaneous nephrostolithotomy (kapena nephrolithotomy): Njirayi imaphatikizapo kudutsa chida chapadera kudzera pakhungu lanu ndi mu impso zanu kuti mutulutse miyala kapena kuwaswa.

Kodi chiyembekezo chanthawi yayitali ndichotani?

Cystinuria ndi chikhalidwe cha moyo wonse chomwe chitha kuyendetsedwa bwino ndi chithandizo. Miyalayo imawonekera makamaka kwa achinyamata ochepera zaka 40 ndipo imatha kuchitika pafupipafupi ndi zaka.

Cystinuria sikukhudza mbali zina zilizonse za thupi. Matendawa samabweretsa impso kulephera. Kupanga miyala pafupipafupi kumayambitsa kutsekeka, ndipo njira zochitira opaleshoni zomwe zingafunike chifukwa chake, zimatha kukhudza impso pakapita nthawi, malinga ndi Rare Diseases Network.

Kodi cystinuria ingapewe bwanji?

Cystinuria sitingapewe ngati makolo onse ali ndi vuto lachibadwa. Komabe, kumwa madzi ochuluka, kuchepetsa kudya mchere, komanso kumwa mankhwala kumathandiza kupewa miyala kuti isapangidwe mu impso.