Alkaptonuria

Alkaptonuria chinhu chisingawanzoitika apo weti yemunhu inoshandura rima rakasvibira-dema kana rikaonekwa kumhepo. Alkaptonuria chikamu cheboka remamiriro anozivikanwa sekukanganisa kuberekwa kwemetabolism.

Kuremara mu HGD gene rinokonzera alkaptonuria.

Iko kuremara kwemajini kunoita kuti muviri usakwanise kupaza zvakanaka mamwe maamino acids (tyrosine uye phenylalanine). Nekuda kweizvozvo, chinhu chinonzi homogentisic acid chinovaka mukati meganda uye nemimwe nyama yemuviri. Iyo acid inosiya muviri kuburikidza neweti. Weti inoshanduka kuita brownish-nhema kana ichinge yasangana nemhepo.

Alkaptonuria inogarwa nhaka, zvinoreva kuti inopfuudzwa kuburikidza nemhuri. Kana ivo vaviri vabereki vakatakura kopi isingashande yegene inoenderana nemamiriro aya, mumwe nemumwe wevana vavo ane 25% (1 mu4) mukana wekuvandudza chirwere.

Weti mumachira emucheche inogona kusviba uye inogona kushanduka kuita nhema mushure memaawa akati wandei. Zvisinei, vanhu vazhinji vane chirwere ichi vangasaziva kuti vanacho. Chirwere ichi chinowanzoonekwa pakati pekukura (makore angangoita makumi mana), panosangana mamwe matambudziko.

Zviratidzo zvinogona kusanganisira:

• Arthritis (kunyanya yemuzongoza) inowedzera kuwedzera nekufamba kwenguva
• Kusviba kwezeve
• Nzvimbo dzakasviba pane chena yeziso uye cornea

Kuedzwa kwemurini kunoitwa kuyedza alkaptonuria. Kana ferric chloride ikawedzerwa kune weti, inozoshandura weti yacho kuva nhema kune vanhu vane chirwere ichi.

Manejimendi yealkaptonuria yakagara yakatarisana nekudzora zviratidzo. Kudya yakaderera mapuroteni chikafu kunogona kubatsira, asi vanhu vazhinji vanoona ichi chirevo chakaoma. Mishonga, yakadai seNSAID uye kurapwa kwepanyama kunogona kubatsira kubvisa marwadzo akabatana.

Zvemakiriniki miedzo iri kuenderera kune mimwe mishonga yekurapa mamiriro aya uye kuongorora kana mushonga nitisinone inopa rubatsiro rwemazuva mazhinji nechirwere ichi.

Mhedzisiro yacho inotarisirwa kuve yakanaka.

Kuvakwa kwe homogentisic acid mu cartilage kunokonzera arthritis muvanhu vakuru vazhinji vane alkaptonuria.

• Homogentisic acid zvakare inogona kuvaka pamusoro pemavharuvhu emoyo, kunyanya iyo mitral vharafu. Izvi zvinogona dzimwe nguva kutungamira mukuda kwekutsiva kwevhavha.
• Coronary arteri chirwere inogona kukura pakutanga kwehupenyu muvanhu vane alkaptonuria.
• Itsvo mabwe nematombo eprostate anogona kunge akajairika kune vanhu vane alkaptonuria.

Fonera wako mupi wezvehutano kana iwe ukaona kuti yako weti kana yako yemwana weti inova yakasviba yakasviba kana nhema kana yafumurwa nemhepo.

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri yealkaptonuria vari kufunga kuve nevana.

Kuongororwa kweropa kunogona kuitwa kuti uone kana uchitakura geni re alkaptonuria.

Prenatal bvunzo (amniocentesis kana chorionic villus sampling) zvinogona kuitwa kutarisisa mwana ari kukura nekuda kwechimiro ichi kana shanduko yemageneti yaonekwa.

AKU; Alcaptonuria; Homogentisic acid oxidase kushomeka; Alcaptonuric ochronosis

James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM. Mycobacterial zvirwere. Muna: James WD, Elston DM, Bata JR, Rosenbach MA, Neuhaus IM, eds. Andrews ’Zvirwere zveGanda. 13 ed. Philadelphia, PA: Elsevier; 2020: chits. 16.

Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Kukanganisa mune metabolism yemamino acids. Mune: Kliegman RM, St. Geme JW, Schor NF, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.

National Institutes of Health, National Raibhurari yeMishonga. Yenguva refu kudzidza nitisinone kurapa alkaptonuria. clinictrials.gov/ct2/show/NCT00107783. Yakagadziridzwa Ndira 19, 2011. Yakasvika muna Chivabvu 4, 2019.

Riley RS, McPherson RA. Yekutanga kuongorora weti. Mune: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis uye Management nemaLabhoritari Maitiro. 23rd ed. St Louis, MO: Elsevier; 2017: chitsiko 28.