Neurodegeneration nehuropi simbi kuunganidza (NBIA)

Neurodegeneration nehuropi simbi kuunganidzwa (NBIA) iboka reasingawanzo manzwiro ehurongwa hwehurongwa. Ivo vanopfuudzwa pasi kuburikidza nemhuri (nhaka). NBIA inosanganisira matambudziko ekufambisa, kuora mwoyo, uye zvimwe zviratidzo zvehurongwa.

Zviratidzo zveNBIA zvinotanga muhudiki kana kukura.

Kune gumi mhando dzeNBIA. Rudzi rumwe nerumwe runokonzerwa nehurema hwesini. Chakajairika geni kuremara chinokonzera kusagadzikana kunodaidzwa kunzi PKAN (pantothenate kinase-associated neurodegeneration).

Vanhu vane mhando dzese dzeNBIA vane muunganidzwa wesimbi mubasal ganglia. Iyi inzvimbo yakadzika mukati mehuropi. Inobatsira kudzora kufamba.

NBIA inonyanya kukonzera matambudziko ekufambisa. Zvimwe zviratidzo zvinogona kusanganisira:

• Dementia
• Zvakaoma kutaura
• Zvakaoma kumedza
• Matambudziko emhasuru senge kuomarara kana kusazvibata kwemhasuru (dystonia)
• Kufenda
• Kudedera
• Chiratidzo kurasikirwa, senge kubva ku retinitis pigmentosa
• Kushaya simba
• Kufamba kwekunyora
• Toe kufamba

Anopa hutano anoita bvunzo dzepanyama uye obvunza nezvezviratidzo uye nhoroondo yezvokurapa.

Genetic bvunzo dzinogona kutsvaga chisina kukwana geni inokonzera chirwere. Nekudaro, bvunzo idzi hadziwanikwe zvakanyanya.

Kuyedzwa kwakadai seMRI scan kunogona kubatsira kutonga kunze kwekumwe kunetseka kwekufamba uye zvirwere. Iyo MRI inowanzo kuratidza masimbi anoiswa muiyo basal ganglia, uye inonzi iyo "ziso rei tiger" chiratidzo nekuda kwenzira yemadhipoiti anotaridzika pakuongorora. Ichi chiratidzo chinoratidza kuongororwa kwePKAN.

Iko hakuna chaiyo kurapwa kweNBIA. Mishonga inosunga iron inogona kubatsira kunonoka chirwere. Kurapa kunonyanya kutarisa kudzora zviratidzo. Mishonga inonyanya kushandiswa kudzora zviratidzo inosanganisira baclofen uye trihexyphenidyl.

NBIA inowedzera uye inokuvadza tsinga nekufamba kwenguva. Inotungamira mukushayikwa kwekufamba, uye kazhinji kufa nekukura kwekutanga.

Mushonga unoshandiswa kurapa zviratidzo unogona kukonzera matambudziko. Kusakwanisa kubva kuchirwere kunogona kutungamira ku:

• Ropa rinovhara
• Zvirwere zvekufema
• Kuparara kweganda

Fonera mupiki wako kana mwana wako achikura:

• Kuwedzera kuomarara mumaoko kana makumbo
• Kuwedzera matambudziko kuchikoro
• Kufamba kusingawanzoitika

Genetic counselling inogona kukurudzirwa kumhuri dzakabatwa nechirwere ichi. Iko hakuna inozivikanwa nzira yekuzvidzivirira.

Hallervorden-Spatz chirwere; Pantothenate kinase-inosangana neurodegeneration; PKAN; NBIA

Gregory A, Hayflick S, Adam MP, et al. Neurodegeneration nehuropi simbi kuwanda kusagadzikana kuongorora. 2013 Feb 28 [yakagadziridzwa 2019 Gumiguru 21]. Mune: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Indaneti]. Seattle, WA: Yunivhesiti yeWashington; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Jankovic J. Parkinson chirwere uye zvimwe zvinetso zvekufamba. Mune: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, eds. Bradley's Neurology muClinical Dzidzira. 7th ed. Philadelphia, PA: Elsevier; 2016: chits. 96.

NBIA Dambudziko Rekusangana. Mhedziso yezvinetso zveNBIA. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorders. Yakasvika munaNovember 3, 2020.