Boloetse ba Menkes
Boloetse ba Menkes ke bokuli bo futsitsoeng moo 'mele o nang le bothata ba ho monya koporo. Lefu lena le ama kholo le kelello.
Boloetse ba Menkes bo bakoa ke ho holofala ha ATP7A liphatsa tsa lefutso. Phoso e etsa hore ho be thata hore 'mele o abele (ho tsamaisa) koporo hantle mmeleng oohle. Ka lebaka leo, boko le likarolo tse ling tsa 'mele ha li fumane koporo e lekaneng, ha li ntse li bokella mala a manyane le liphio. Tekanyo e tlase ea koporo e ka ama sebopeho sa masapo, letlalo, moriri le methapo ea mali, mme ea kena-kenana le ts'ebetso ea methapo.
Matšoao a Menkes hangata a futsitsoe, ho bolelang hore a sebetsa malapeng. Liphatsa tsa lefutso li ho X-chromosome, ka hona haeba mme a jere liphatsa tsa lefutso tse sa sebetseng, e mong le e mong oa bara ba hae o na le monyetla oa 50% (1 ho 2) oa ho ba le lefu lena, mme barali ba hae ba 50% e tla ba bajari ba lefu lena. . Mofuta ona oa lefa la lefutso o bitsoa X-linked exessive.
Ho batho ba bang, lefu lena ha le futsitsoe. Ho fapana le moo, sekoli sa lefutso se teng ka nako eo ngoana a emolisoang ka eona.
Matšoao a tloaelehileng a lefu la Menkes ho masea ke:
- Moriri o brittle, kinky, steely, sparse kapa o feretsoeng
- Pudgy, marama a boreleli, letlalo le sefahleho le thellisang
- Mathata a ho fepa
- Ho teneha
- Ho hloka molumo oa mesifa, ho thella
- Mocheso oa 'mele o tlase
- Bokooa ba kelello le tieho ea kholo
- Ho oa
- Liphetoho tsa masapo
Hang ha lefu la Menkes le belaelloa, liteko tse ka etsoang li kenyelletsa:
- Teko ea mali ea Ceruloplasmin (ntho e tsamaisang koporo maling)
- Teko ea mali ea koporo
- Tloaelo ea lisele tsa letlalo
- X-ray ea masapo kapa x-ray ea lehata
- Tlhahlobo ea liphatsa tsa lefutso ho lekola phoso ea ATP7A liphatsa tsa lefutso
Kalafo hangata e thusa feela ha e qalile kapele haholo nakong ea lefu lena. Liente tsa koporo mothapong kapa ka tlasa letlalo li sebelisitsoe ka liphetho tse tsoakaneng mme ho latela hore na ATP7A liphatsa tsa lefutso li ntse li na le mosebetsi o itseng.
Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka lefu la Menkes:
- Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/menkes-disease
- Tshupiso ea Lehae la NIH / NLM Genetics - ghr.nlm.nih.gov/condition/menkes-syndrome
Boholo ba bana ba nang le lefu lena ba shoa lilemong tse 'maloa tsa pele tsa bophelo.
Bua le mofani oa tlhokomelo ea bophelo haeba u na le nalane ea lelapa ea Menkes syndrome mme u rerile ho ba le bana. Lesea le nang le boemo bona hangata le bonts'a matšoao mathoasong a bongoana.
Bona moeletsi oa liphatsa tsa lefutso haeba u batla ho ba le bana 'me u na le nalane ea lelapa ea lefu la Menkes. Beng ka 'mè (beng ka lehlakoreng la bo-mme la moshemane) oa moshemane ea nang le lefu lena o lokela ho bonoa ke setsebi sa lefutso ho fumana hore na ke bajari.
Steely lefu la moriri; Lefu la Menkes kinky hair; Kinky lefu la moriri; Boloetse ba lipalangoang tsa koporo; Trichopoliodystrophy; Khaello ea koporo e amanang le X
- Hypotonia
Kwon JM. Mathata a Neurodegenerative a bongoaneng. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah, SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 617.
Turnpenny PD, Ellard S. Liphoso tsa tlhaho ea metabolism. Ka: Turnpenny PD, Ellard S, bahlophisi. Lintho tsa Emery tsa Bongaka ba Liphatsa tsa lefutso. 15th ed. Philadelphia, PA: Elsevier; 2017: khaolo ea 18.