Chirwere cheMenkes

Chirwere cheMenkes idambudziko rekugara nhaka umo muviri une dambudziko rekutora mhangura. Chirwere ichi chinokanganisa budiriro, zvese zvepfungwa nemuviri.

Chirwere cheMenkes chinokonzerwa nehurema mu ATP7A geni. Kuremara kunoita kuti zviomere muviri kunyatsogovera (kutakura) mhangura mumuviri wese. Nekuda kweizvozvo, huropi uye zvimwe zvikamu zvemuviri hazviwane zvakakwana mhangura, apo inovaka mumatumbu madiki neitsvo. Chikamu chendarira chakadzika chinogona kukanganisa chimiro chefupa, ganda, vhudzi, uye tsinga dzeropa, uye zvinokanganisa mashandiro etsinga.

Menkes syndrome inowanzo garwa nhaka, zvinoreva kuti inomhanya mumhuri. Iyo geni iri pane X-chromosome, saka kana amai vakatakura geni rakaremara, mumwe nemumwe wevanakomana vavo ane 50% (1 mu2) mukana wekuvandudza chirwere, uye makumi mashanu muzana evanasikana vake vanozove vanotakura chirwere . Iyi mhando yenhaka yenhaka inonzi X-yakabatana yakawandisa.

Mune vamwe vanhu, chirwere hachina kugarwa nhaka. Panzvimbo pezvo, urema hwemajini huripo panguva iyo mwana anonambwa.

Zviratidzo zvakajairika zveMenkes chirwere muvacheche ndeizvi:

• Brittle, kinky, steely, shoma, kana tangled bvudzi
• Pudgy, ane matama matama, ganda riri kumeso
• Kudyisa matambudziko
• Kushatirwa
• Kusava nemhasuru toni, kugadzikana
• Tembiricha yemuviri yakaderera
• Urema hwekuziva uye kusimudzira kwekusimudzira
• Kufenda
• Skeletal shanduko

Pane imwe nguva chirwere cheMenkes chikafungidzirwa, bvunzo dzinogona kuitwa dzinosanganisira:

• Ceruloplasmin ropa bvunzo (chinhu chinotakura mhangura muropa)
• Kuongorora ropa remhangura
• Ganda sero tsika
• X-ray yemasaga kana x-ray yehenya
• Gene kuyedza kutarisa kukanganisa kweiyo ATP7A geni

Kurapa kazhinji kunongobatsira kana kuchinge kwatanga kwazvo munguva yechirwere. Majekiseni emhangura mutsinga kana pasi peganda akashandiswa nemhedzisiro yakasanganiswa uye zvinoenderana nekuti iyo ATP7A geni ichine chimwe chiitiko.

Izvi zviwanikwa zvinogona kupa rumwe ruzivo nezve Menkes syndrome:

• National Sangano reRare Dambudziko - rarediseases.org/rare-diseases/menkes-disease
• NIH / NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/menkes-syndrome

Vazhinji vana vane chirwere ichi vanofa mukati memakore mashoma ekutanga ehupenyu.

Taura nemupi wako wezvehutano kana uine nhoroondo yemhuri yeMenkes syndrome uye waronga kuita vana. Mwana ane chirwere ichi anowanzo kuratidza zviratidzo achiri mudiki mucheche.

Ona wezano kana iwe uchida kuita vana uye une nhoroondo yemhuri yeMenkes syndrome. Hama dzaamai (hama kudivi raamai vemhuri) yemukomana ane chirwere ichi anofanira kuonekwa nenjuzu kuti aone kana vari vatakuri.

Steely bvudzi chirwere; Menkes kinky bvudzi chirwere; Kinky bvudzi chirwere; Mhangura yekufambisa chirwere; Trichopoliodystrophy; X-yakabatana kushomeka kwemhangura

• Hypotonia

Kwon JM. Neurodegenerative kusagadzikana kwehucheche. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsiko 617.

Turnpenny PD, Ellard S. Zvikanganiso zvekuzvarwa kwemetabolism. Mune: Turnpenny PD, Ellard S, eds. Zvinhu zveEmery zveMedical Genetics. Wechi15 ed. Philadelphia, PA: Elsevier; 2017: chits. 18.