Neurodegeneration e nang le pokello ea tšepe ea boko (NBIA)

Neurodegeneration e nang le bokello ba tšepe ea boko (NBIA) ke sehlopha sa mathata a sa tloaelehang haholo a sistimi ea methapo. Li fetisoa ke malapa (a futsitsoeng). NBIA e kenyelletsa mathata a motsamao, 'dementia' le matšoao a mang a tsamaiso ea methapo.

Matšoao a NBIA a qala bongoaneng kapa boholong.

Hona le mefuta e 10 ea NBIA. Mofuta o mong le o mong o bakoa ke bofokoli bo fapaneng ba lefutso. Sekoli se tloaelehileng haholo sa lefutso se baka bothata bo bitsoang PKAN (pantothenate kinase-associated neurodegeneration).

Batho ba nang le mefuta eohle ea NBIA ba na le tšepe e ngata ka har'a basal ganglia. Sena ke sebaka se botebong ba boko. E thusa ho laola motsamao.

NBIA haholoholo e baka mathata a motsamao. Matšoao a mang a kenyeletsa:

• Dementia ea kelello
• Ho thata ho bua
• Ho thata ho koenya
• Mathata a mesifa a kang ho satalla kapa ho honyela ha mesifa (dystonia)
• Ho oa
• Ho thothomela
• Pono ea tahlehelo, joalo ka retinitis pigmentosa
• Bofokoli
• Mekhatlo ea bongoli
• Ho tsamaea menoana

Mofani oa tlhokomelo ea bophelo o tla etsa tlhahlobo ea 'mele mme a botse ka matšoao le nalane ea bongaka.

Liteko tsa lefutso li ka sheba lefutso le nang le sekoli le bakang lefu lena. Leha ho le joalo, liteko tsena ha li fumanehe hohle.

Liteko tse kang scan scan ea MRI li ka thusa ho felisa mathata le maloetse a mang a tsamaeang. MRI hangata e bonts'a li-depositi tsa tšepe ka basal ganglia, mme e bitsoa "leihlo la nkoe" ka lebaka la tsela eo li-depositi li shebahalang ka eona scan. Letšoao lena le fana ka maikutlo a ho hlahlojoa ha PKAN.

Ha ho na kalafo e khethehileng bakeng sa NBIA. Meriana e tlamang tšepe e ka thusa ho fokotsa lefu lena. Kalafo e shebane haholo le ho laola matšoao. Meriana e sebelisoang haholo ho laola matšoao e kenyelletsa baclofen le trihexyphenidyl.

NBIA e mpefala mme e senya methapo ka mor'a nako. E lebisa ho hloka motsamao, mme hangata lefu ka ho ba motho e moholo.

Meriana e sebelisetsoang ho phekola matšoao e ka baka mathata. Ho sitoa ho tloha lefung ho ka lebisa ho:

• Ho koala mali
• Matšoao a phefumoloho
• Ho senyeha ha letlalo

Bitsa mofani oa hau haeba ngoana oa hau a hlaha:

• Ho thatafala ho eketsehileng matsohong kapa maotong
• Ho eketsa mathata sekolong
• Mekhatlo e sa tloaelehang

Tlhabollo ea lefutso e ka buelloa ho malapa a anngoeng ke bokuli bona. Ha ho na mokhoa o tsebahalang oa ho e thibela.

Lefu la Hallervorden-Spatz; Pantothenate kinase-amanang neurodegeneration; PKAN; NBIA

Gregory A, Hayflick S, Adam MP, le al. Neurodegeneration e nang le mathata a bokello ea tšepe ea bokong. 2013 Feb 28 [e ntlafalitsoeng 2019 Oct 21]. Ka: Adam MP, Ardinger HH, Pagon RA, et al, eds. GeneReviews [Marang-rang]. Seattle, WA: Univesithi ea Washington; 1993-2020. PMID: 23447832 pubmed.ncbi.nlm.nih.gov/23447832/.

Lefu la Jankovic J. Parkinson le mathata a mang a motsamao. Ka: Daroff RB, Jankovic J, Mazziotta JC, Pomeroy SL, bahlophisi. Neurology ea Bradley ho Tloaelo ea Bongaka. La 7th. Philadelphia, PA: Elsevier; 2016: khaolo ea 96.

Mokhatlo oa Mathata a NBIA. Kakaretso ea mathata a NBIA. www.nbiadisorders.org/about-nbia/overview-of-nbia-disorder. E fihlile ka la 3 November, 2020.