Alkaptonuria: chimene icho chiri, zizindikiro ndi chithandizo

Zamkati

• Zizindikiro za alkaptonuria
• Chifukwa chiyani zimachitika
• Momwe mankhwalawa amachitikira

Alcaptonuria, yotchedwanso ochronosis, ndi matenda osowa omwe amadziwika ndi cholakwika mu kagayidwe ka amino acid phenylalanine ndi tyrosine, chifukwa cha kusintha pang'ono mu DNA, komwe kumapangitsa kudzikundikira kwa zinthu m'thupi zomwe sizingachitike kudziwika m'magazi.

Zotsatira zakuchulukirachulukira kwa izi, pali zizindikilo ndi zizindikilo za matendawa, monga mkodzo wakuda, phula la khutu lamtambo, kupweteka ndi kuuma m'malo molumikizana ndi mawanga pakhungu ndi khutu, mwachitsanzo.

Alcaptonuria alibe mankhwala, komabe chithandizocho chimathandiza kuchepetsa zizindikilo, tikulimbikitsidwa kuti tizidya zakudya zochepa zomwe zili ndi phenylalanine ndi tyrosine, kuwonjezera pa kuchuluka kwa zakudya zomwe zili ndi vitamini C, monga mandimu, mwachitsanzo.

Zizindikiro za alkaptonuria

Zizindikiro za alcaptonuria nthawi zambiri zimawoneka adakali ana, pomwe mkodzo wakuda komanso mawanga pakhungu ndi m'makutu, zimadziwika. Komabe, anthu ena amangokhala azizindikiro atakwanitsa zaka 40, zomwe zimapangitsa kuti mankhwala azivuta ndipo zizindikilozo zimakhala zovuta kwambiri.

Ambiri, zizindikiro za alkaptonuria ndi:

• Mdima, pafupifupi mkodzo wakuda;
• Sera yamakutu ya Bluish;
• Mawanga akuda mbali yoyera ya diso, kuzungulira khutu ndi kholingo;
• Ogontha;
• Nyamakazi yomwe imayambitsa kupweteka kwamalumikizidwe ndikusuntha kochepa;
• Kuuma kwa cartilage;
• Impso ndi miyala ya prostate, mwa amuna;
• Mavuto amtima.

Mdima wakuda umatha kudziunjikira pakhungu mdera lamakhosi ndi kubuula, komwe, kutuluka thukuta, kumatha kupitako. Zimakhala zachizolowezi kuti munthuyo amavutika kupuma chifukwa chazitsulo zazing'ono komanso kuwuma chifukwa chouma kwa nembanemba ya hyaline. Chakumapeto kwa matendawa, asidi amatha kudziunjikira m'mitsempha ndi m'mitsempha yamtima, zomwe zimatha kubweretsa zovuta zamtima.

Kuzindikira kwa alkaptonuria kumachitika pofufuza zizindikirazo, makamaka ndi mawonekedwe amdima amtundu wa matenda omwe amapezeka m'malo osiyanasiyana amthupi, kuphatikiza pakuyesa kwa labotale komwe kumayesa kudziwa kuchuluka kwa homogentisic acid m'magazi, makamaka, kapena kuti azindikire kuti masinthidwewo abwera kudzera m'mayeso am'molekyulu.

Chifukwa chiyani zimachitika

Alcaptonuria ndi matenda opatsirana pogonana omwe amadziwika ndi kusowa kwa enzyme ya homogentisate dioxigenase chifukwa cha kusintha kwa DNA. Enzyme imeneyi imagwira ntchito pakapangidwe kazinthu zapakatikati mu metabolism ya phenylalanine ndi tyrosine, homogentisic acid.

Chifukwa chake, chifukwa chakusowa kwa enzyme iyi, pali asidi ameneyu mthupi, zomwe zimapangitsa kuti zizindikilo za matendawa, monga mkodzo wamdima chifukwa chakupezeka kwa homogeneous acid mu mkodzo, mawonekedwe abuluu kapena mawanga akuda kumaso ndi diso ndi kupweteka komanso kuuma m'maso.

Momwe mankhwalawa amachitikira

Chithandizo cha alkaptonuria chili ndi cholinga chothanirana ndi zizindikilozo, chifukwa ndi matenda obadwa nawo. Chifukwa chake, kugwiritsa ntchito mankhwala opha ululu kapena odana ndi zotupa kungalimbikitsidwe kuti muchepetse kupweteka kwamalumikizidwe ndi kuwuma kwa cartilage, kuphatikiza magawo a physiotherapy, omwe amatha kuchitidwa ndi kulowa kwa corticosteroid, kukonza magwiridwe antchito am'magazi okhudzidwa.

Kuphatikiza apo, tikulimbikitsidwa kutsatira zakudya zochepa mu phenylalanine ndi tyrosine, popeza ndizomwe zimayambitsa asidi homogentisic acid, chifukwa chake tikulimbikitsidwa kupewa kumwa ma cashews, ma almond, mtedza waku Brazil, mapeyala, bowa, dzira loyera, nthochi, mkaka ndi nyemba, mwachitsanzo.

Kudya vitamini C, kapena ascorbic acid, kumathandizidwanso ngati chithandizo, chifukwa kumathandiza kuchepetsa kuchuluka kwa nkhumba zofiirira mu cartilage ndikupanga nyamakazi.