Homocystinuria

Homocystinuria chirwere chegene chinokanganisa metabolism yeamino acid methionine. Amino acids ndiwo anovaka hupenyu.

Homocystinuria inogara nhaka mumhuri senge autosomal yakawandisa hunhu. Izvi zvinoreva kuti mwana anofanirwa kugara nhaka isingashande kopi yegene kubva kumubereki wega wega kuti akanganiswe zvakanyanya.

Homocystinuria ine akati wandei maficha akafanana neMarfan syndrome, kusanganisira marunda uye kuchinja kweziso.

Vacheche vachangozvarwa vanoita sevakagwinya. Zviratidzo zvekutanga, kana zviripo, hazvisi pachena.

Zviratidzo zvinogona kuitika sekunonoka kunonoka kukura kana kutadza kubudirira. Kuwedzera matambudziko ekuona kunogona kutungamira kuongororwa kweichi chiitiko.

Zvimwe zviratidzo zvinosanganisira:

• Chifuva chakaremara (pectus carinatum, pectus excavatum)
• Bhururuka pamatama
• Yakakwirira arches yetsoka
• Urema hwekuziva
• Gogodza mabvi
• Mitezo mirefu
• Matambudziko epfungwa
• Nearsightedness
• Spidery zvigunwe (arachnodactyly)
• Yakareba, yakaonda kuvaka

Anopa hutano anogona kuona kuti mwana akareba uye mutete.

Zvimwe zviratidzo zvinosanganisira:

• Yakakombama musana (scoliosis)
• Kuremara kwebhokisi
• Akadzora lens yeziso

Kana paine murombo kana kuona kaviri, chiremba weziso (ophthalmologist) achaita bvunzo yeziso yakakwenenzverwa kuti atsvage dislocation ye lens kana kuona pedyo.

Panogona kunge paine nhoroondo yekugwamba kweropa. Urema hwekuziva kana chirwere chepfungwa chinogonekawo.

Miedzo inogona kurairwa inosanganisira chero yeanotevera:

• Amino acid skrini yeropa uye weti
• Kuongorora genetic
• Chiropa biopsy uye enzyme assay
• Skeletal x-ray
• Ganda biopsy ine fibroblast tsika
• Yepasi ophthalmic bvunzo

Iko hakuna mushonga we homocystinuria. Inenge hafu yevanhu vane chirwere vanopindura vhitamini B6 (inozivikanwawo se pyridoxine).

Avo vanopindura vanofanirwa kutora vhitamini B6, B9 (folate), uye B12 zvinowedzera kwehupenyu hwavo hwese. Avo vasina kupindura kune zvinowedzera zvinoda kudya yakaderera-methionine kudya. Vazhinji vanozoda kurapwa ne trimethylglycine (mushonga unonziwo betaine).

Chero yakaderera-methionine chikafu kana mushonga haugadzirise huripo hurema hurema. Mishonga uye chikafu chinofanira kutariswa zvakanyanya nachiremba ane ruzivo rwekurapa homocystinuria.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve homocystinuria:

• HCU Network America - hcunetworkamerica.org
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/homocystinuria

Kunyangwe pasina mushonga uripo wehomocystinuria, vhitamini B kurapa kunogona kubatsira inenge hafu yevanhu vanobatwa nemamiriro acho.

Kana chirwere ichi chikaitwa muhucheche, kutanga yakaderera-methionine kudya nekukurumidza kunogona kudzivirira kumwe kuremara kwehungwaru uye zvimwe zvinetso zvechirwere. Neichi chikonzero, vamwe vanoti screen ye homocystinuria mune vese vacheche.

Vanhu vane ropa ravo homocysteine ​​mwero unoramba uchikwira vari pangozi yakakura yekugwamba kweropa. Mavhinga anogona kukonzera matambudziko akakomba ekurapa uye kupfupisa hupenyu.

Mazhinji matambudziko akakomba anoitika nekuda kweropa. Izvi zvikamu zvinogona kutyisidzira hupenyu.

Akadzora lenzi dzemaziso dzinogona kukuvadza zvakanyanya kuona. Kuvhiyiwa kwemaLens kunogona kudikanwa.

Kuremara kwehungwaru mhedzisiro yechirwere ichi. Asi, inogona kudzikiswa kana ikakurumidza kuongororwa.

Fonera mupi wako kana iwe kana nhengo yemhuri uchiratidza zviratidzo zvechirwere ichi, kunyanya kana uine nhoroondo yemhuri yehomocystinuria.

Genetic counselling inokurudzirwa kune vanhu vane nhoroondo yemhuri yehomocystinuria vanoda kuve nevana. Prenatal kuongororwa kwehemocystinuria inowanikwa. Izvi zvinosanganisira kurongedza amniotic maseru kana chorionic villi kuyedza cystathionine synthase (iyo enzyme isipo mu homocystinuria).

Kana paine anozivikanwa majini kuremara muvabereki kana mhuri, masampuli kubva ku chorionic villus sampling kana amniocentesis anogona kushandiswa kuyedza kukanganisa uku.

Cystathionine beta-synthase kushomeka; Kushayikwa kweCBS; HCY

• Pectus excavatum

Schiff M, Blom H. Homocystinuria uye hyperhomocysteinemia. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier Saunders; 2020: chits. 198.

Shchelochkov OA, Venditti CP. Methionine. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chits. 103.3.