Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) chirwere chemajini chinokanganisa tsinga, mhasuru, dzimwe nhengo uye hunhu. Inononoka kuwedzera nekufamba kwenguva.

MLD inowanzo kukonzerwa nekushaikwa kweakakosha enzyme inonzi arylsulfatase A (ARSA). Nekuti iyi enzyme isipo, makemikari anonzi sulfatides anovaka mumuviri uye anokuvadza system yemitsipa, itsvo, nduru, uye dzimwe nhengo. Kunyanya, makemikari anokuvadza sheaths anodzivirira anotenderedza maseru etsinga.

Chirwere chinopfuudzwa kuburikidza nemhuri (nhaka). Iwe unofanirwa kutora kopi yeakaremara gene kubva kuvabereki vako vese kuti uve nechirwere. Vabereki vanogona mumwe nemumwe kuve neyakaremara jeni, asi vasina MLD. Munhu ane rimwe rakaremara geni anonzi "mutakuri."

Vana vanowana nhaka chete isina kukwana geni kubva kune mumwe mubereki vanozove mutakuri, asi kazhinji havazogadziri MLD. Kana vatakuri vaviri vaine mwana, pane mukana we1 mu4 wekuti mwana awane majini ese uye ave neMLD.

Kune matatu mafomu eMLD. Mafomu aya akavakirwa panotanga zviratidzo:

• Kunonoka kwevechidiki MLD zviratidzo zvinowanzotanga nemakore 1 kusvika 2.
• Zviratidzo zvevechidiki zveMLD zvinowanzotanga pakati pemakore mana ne12.
• Vakuru (uye yekupedzisira-nhanho yevechidiki MLD) zviratidzo zvinogona kuitika pakati pemakore gumi nemana nekukura (pamusoro pemakore gumi nematanhatu), asi zvinogona kutanga sekupedzisira semakumi mana kana makumi mashanu.

Zviratidzo zveMLD zvinogona kusanganisira chero yeanotevera:

• Yakasarudzika kumusoro kana kuderera kwemhasuru toni, kana kusanzwisisika kwemhasuru kufamba, chero ipi zvayo inogona kukonzeresa matambudziko kufamba kana kuwira kakawanda
• Matambudziko ehunhu, hunhu hunoshanduka, kutsamwa
• Kuderera kwepfungwa kushanda
• Zvakaoma kumedza
• Kusakwanisa kuita zvakajairika mabasa
• Kusazvidzora
• Kuita zvakashata kuchikoro
• Kufenda
• Kunetsa kwekutaura, kutsvedza

Anopa hutano anozoongorora muviri, achitarisa zviratidzo zvehurongwa hwemitsipa.

Miedzo inogona kuitwa inosanganisira:

• Ropa kana ganda tsika kutsvaga yakaderera arylsulfatase A chiitiko
• Ropa bvunzo kutarisa yakaderera arylsulfatase A enzyme mazinga
• DNA kuyedza yeiyo ARSA geni
• MRI yeuropi
• Tsinga biopsy
• Tsinga kusaina zvidzidzo
• Kuongorora urinal

Iko hakuna mushonga weMLD. Kuchengetedza kwakanangana nekurapa zviratidzo uye kuchengetedza hupenyu hwemunhu nehutano hwepanyama uye hwekushanda.

Bone marrow kuisirwa inogona kutaridzirwa yevechidiki MLD.

Kutsvagisa kuri kudzidza nzira dzekutsiva iyo enzyme isipo (arylsulfatase A).

Aya mapoka anogona kupa rumwe ruzivo nezve MLD:

• Sangano reNational for Rare Disorders --rarediseases.org/rare-diseases/metachromatic-leukodystrophy
• NLM Genetics Kumba Referensi - ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy
• United Leukodystrophy Sangano - www.ulf.org

MLD chirwere chakakomba chinowedzera kuwedzera nekufamba kwenguva. Pakupedzisira, vanhu vanorasikirwa neese mhasuru uye kushanda kwepfungwa. Hupenyu hurefu hunosiyana, zvinoenderana nekuti zera rakatanga zera ripi, asi kosi yechirwere inowanzo mhanyisa makore matatu kusvika makumi maviri kana kupfuura.

Vanhu vane chirwere ichi vanotarisirwa kuve neupfupi pane hwakajairwa hupenyu. Pakutanga zera rekuongororwa, chirwere chinofambira mberi nekukurumidza.

Genetic counselling inokurudzirwa kana iwe uine nhoroondo yemhuri yechirwere ichi.

MLD; Arylsulfatase Kushomeka; Leukodystrophy - metachromatic; Kushomeka kweARSA

• Central nervous system uye yekumusoro tsinga system

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, Cleaver R. Inborn zvikanganiso zve metabolism. Mune: Turnpenny PD, Ellard S, Cleaver R, eds. Zvinhu zveEmery zveMedical Genetics uye Genomics. 16 ed. Philadelphia, PA: Elsevier; 2022: chitsauko 18.