Alkaptonuria: chii, zviratidzo uye kurapwa

Zvemukati

• Zviratidzo alkaptonuria
• Nei zvichiitika
• Kurapwa kunoitwa sei

Alcaptonuria, inonziwo ochronosis, chirwere chisingawanzozivikanwa nekukanganisa mune metabolism yemamino acids phenylalanine uye tyrosine, nekuda kweshanduko diki muDNA, zvichikonzera kuunganidzwa kwechinhu mumuviri icho pasi pemamiriro ezvinhu akajairika kuzivikanwa muropa.

Semhedzisiro yekuunganidzwa kwechinhu ichi, pane zviratidzo nezviratidzo zvakajairika zvechirwere, senge yakasviba weti, bhuruu nzeve wakisi, kurwadziwa uye kuomarara mumajoini uye mavara paganda nenzeve, semuenzaniso.

Alcaptonuria haina mushonga, zvisinei kurapwa kunobatsira kudzikisa zviratidzo, zvinokurudzirwa kuteedzera chikafu chakaderera muzvikafu zvine phenylalanine uye tyrosine, kuwedzera mukuwedzera kudyiwa kwezvikafu zvine vhitamini C, senge ndimu, semuenzaniso.

Zviratidzo alkaptonuria

Zviratidzo zvealcaptonuria zvinowanzoonekwa kutanga muhudiki, apo weti yakasviba uye mavara paganda nenzeve, semuenzaniso, anoonekwa. Zvisinei, vamwe vanhu vanongova chiratidzo mushure memakore makumi mana, izvo zvinoita kuti kurapwa kuve kwakaomarara uye zviratidzo zvinowanzo kuve zvakanyanya.

Kazhinji, zviratidzo zvealkaptonuria ndezvi:

• Rima, inenge yakasviba weti;
• Bhuruu nzeve nzeve;
• Mavara matema pane chena chikamu cheziso, kutenderedza nzeve uye larynx;
• Matsi;
• Arthritis inokonzeresa kurwadza kwemajoini uye kufamba kushoma;
• Kuomarara kwekartilage;
• Itsvo nematombo eprostate, mune varume;
• Zvinetso zvemwoyo.

Iyo yakasviba pigment inogona kuunganidzwa paganda mumatunhu ehapwa nekugomera, ayo, kana achidikitira, anogona kupfuura kune mbatya. Zvakajairika kuti munhu anetseke kufema nekuda kwenzira yekuomarara anodhura shwashwa uye hoarseness nekuda kwekuomarara kweiyo hyaline membrane. Mumatanho ekupedzisira echirwere, asidhi inogona kuunganidzwa mutsinga uye tsinga dzemwoyo, izvo zvinogona kutungamira kumatambudziko akakomba emoyo.

Kuongororwa kwealkaptonuria kunoitwa nekuongorora zviratidzo, kunyanya nerima dema rinoratidzira chirwere chinoonekwa munzvimbo dzakasiyana dzemuviri, kuwedzera kune bvunzo dzemurabhoritari dzinovavarira kuona kuwanda kwe homogentisic acid muropa, kunyanya, kana kuona shanduko kuburikidza nemamoremu bvunzo.

Nei zvichiitika

Alcaptonuria i autosomal recessive metabolic chirwere chinoonekwa nekushaikwa kweiyo homogentisate dioxigenase enzyme nekuda kwekuchinja kweDNA. Iyi enzyme inoshanda mune metabolism yemukati wepakati mu metabolism ye phenylalanine uye tyrosine, homogentisic acid.

Nekudaro, nekuda kwekushomeka kweiyo enzyme, kune kuunganidzwa kweiyi asidi mumuviri, zvichitungamira pakuonekwa kwezviratidzo zvechirwere, senge weti yakasviba nekuda kwekuvapo kwe homogeneous acid mumugini, kuoneka kwebhuruu. kana mavara akasviba kumeso neziso uye kurwadziwa uye kuomarara mumaziso majoini.

Kurapwa kunoitwa sei

Mushonga we alkaptonuria une chinangwa chekurerutsa zviratidzo, nekuti chiri chirwere chemageneti chehunhu hwakawandisa. Nekudaro, kushandiswa kweanorodza kana anti-anogumbura zvinodhaka zvinogona kukurudzirwa kudzikamisa marwadzo pamwe uye kuomarara kwekatekete, mukuwedzera kumisangano ye physiotherapy, iyo inogona kuitwa nekorticosteroid infiltration, kugadzirisa kufamba kwemajoini akabatwa.

Uye zvakare, zvinokurudzirwa kutevera chikafu chakaderera mu phenylalanine uye tyrosine, sezvo vari ivo vekutanga e homogentisic acid, saka zvinokurudzirwa kudzivirira kudyiwa kwemashezi, maarumondi, nzungu dzeBrazil, avocado, howa, chena mazai, bhanana, mukaka uye bhinzi, semuenzaniso.

Iko kudya kwevhitamini C, kana ascorbic acid, kunokurudzirwawo sekurapa, nekuti zvinoshanda mukuderedza kuwanda kwemavara eruvara rwekatekete nekukudziridza arthritis.