Lefu la Tay-Sachs

Lefu la Tay-Sachs ke lefu le sokelang bophelo la sistimi ea methapo e fetisoang ke malapa.

Lefu la Tay-Sachs le hlaha ha 'mele o haelloa ke hexosaminidase A. Ena ke protheine e thusang ho theola sehlopha sa lik'hemik'hale tse fumanoang lisele tsa methapo tse bitsoang li-gangliosides. Ntle le protheine ena, li-ganglioside, haholo-holo ganglioside GM2, li aha liseleng, hangata lisele tsa methapo bokong.

Boloetse ba Tay-Sachs bo bakoa ke lefutso le sa sebetseng ka chromosome 15. Ha batsoali ka bobeli ba jara phatsa ea lefutso ea Tay-Sachs, ngoana o na le monyetla oa 25% oa ho ba le lefu lena. Ngoana o lokela ho amohela likopi tse peli tsa lefutso le nang le sekoli, e le 'ngoe ho motsoali ka mong, e le hore a kula. Haeba motsoali a le mong feela a fetisetsa lefutso le nang le sekoli ho ngoana, ngoana o bitsoa mokalli. Ba ke ke ba kula, empa ba ka fetisetsa lefu lena ho bana ba bona.

Mang kapa mang e ka ba sesebelisoa sa Tay-Sachs. Empa, lefu lena le atile haholo hara Bajude ba Ashkenazi. Motho a le mong ho ba bang le ba bang ba 27 ba sechaba o na le lefutso la Tay-Sachs.

Tay-Sachs e arotsoe ka mefuta ea masea, bacha le batho ba baholo, ho latela matšoao le hore na li qala ho hlaha neng. Batho ba bangata ba nang le Tay-Sachs ba na le foromo ea masea. Ka mokhoa ona, tšenyo ea methapo hangata e qala ha lesea le ntse le le ka popelong. Hangata matšoao a hlaha ha ngoana a le likhoeli tse 3 ho isa ho tse 6. Lefu lena le atisa ho mpefala kapele haholo, mme hangata ngoana o shoa a le lilemo li 4 kapa 5.

Boloetse ba morao-rao ba Tay-Sachs, bo amang batho ba baholo, ha bo fumanehe hangata.

Matšoao a ka kenyelletsa efe kapa efe ea tse latelang:

• Ho se utloe litsebeng
• Ho fokotsa ho shebana le mahlo, bofofu
• Fokotsa molumo oa mesifa (tahlehelo ea matla a mesifa), tahlehelo ea tsebo ea makoloi, ho holofala
• Khōlo e liehang le ho liehisa tsebo ea kelello le sechaba
• Dementia (tahlehelo ea ts'ebetso ea boko)
• Ho eketseha ha tšabo
• Ho teneha
• Ho se tsotelle
• Ho oa

Mofani oa tlhokomelo ea bophelo o tla hlahloba lesea mme a botse nalane ea lelapa la hau. Liteko tse ka etsoang ke:

• Tlhahlobo ea enzyme ea mali kapa lisele tsa 'mele bakeng sa maemo a hexosaminidase
• Tlhahlobo ea mahlo (e senola sebaka se sefubelu se khubelu ho macula)

Ha ho na kalafo bakeng sa lefu la Tay-Sachs ka bolona, ​​ke mekhoa feela ea ho etsa hore motho a phutholohe haholoanyane.

Matšoenyeho a bokuli a ka fokotsoa ka ho ikopanya le lihlopha tsa tšehetso tseo litho tsa tsona li arolelanang liphihlelo le mathata a tšoanang. Lihlopha tse latelang li ka fana ka leseli le eketsehileng ka lefu la Tay-Sachs:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/tay-sachs-disease
• Mokhatlo oa Naha oa Tay-Sachs le Mafu a Kopaneng - www.ntsad.org
• Referense ea Lehae la NLM Genetics - ghr.nlm.nih.gov/condition/tay-sachs-disease

Bana ba nang le lefu lena ba na le matšoao a mpefalang ha nako e ntse e feta. Hangata ba shoa ba le lilemo li 4 kapa 5.

Matšoao a hlaha nakong ea likhoeli tsa 3 ho isa ho tse 10 tsa bophelo mme a tsoela pele ho phahama, ho oa le ho lahleheloa ke metsamao eohle ea boithatelo.

E-ea kamoreng ea maemo a tšohanyetso kapa letsetsa nomoro ea ts'ohanyetso ea lehae (joalo ka 911) haeba:

• Ngoana oa hau o tšoeroe ke sesosa se sa tsejoeng
• Ho nkuoa ho fapane le ho tšoaroa hoa pele
• Ngoana o hema ka thata
• Ho tšoaroa ho nka nako e teletsana ho feta metsotso e 2 ho isa ho e 3

Bitsa kopano le mofani oa hau haeba ngoana oa hau a na le liphetoho tse ling tse hlakileng tsa boits'oaro.

Ha ho na mokhoa o tsebahalang oa ho thibela lefu lena. Ho lekoa ka liphatsa tsa lefutso ho ka bona hore na u mofani oa lefutso la lefu lena. Haeba uena kapa molekane oa hau le tsoa sechabeng se kotsing, o kanna oa lakatsa ho batla tlhabollo ea lefutso pele o qala lelapa.

Haeba u se u le moimana, ho hlahloba amniotic fluid ho ka fumana lefu la Tay-Sachs ka popelong.

Li-gangliosidosis tsa GM2 - Tay-Sachs; Maloetse a polokelo ea Lysosomal - lefu la Tay-Sachs

• Sisteme ea methapo e bohareng le methapo ea methapo

Kwon JM. Mathata a Neurodegenerative a bongoaneng. Ka: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, bahlophisi. Buka ea Nelson ea Pediatrics. 20th, ed. Philadelphia, PA: Elsevier; 2016: khaolo ea 599.

Nussbaum RL, McInnes RR, Willard HF. Boemo ba limolek'hule, lik'hemik'hale le lisele tsa lefutso. Ka: Nussbaum RL, McInnes RR, Willard HF, bahlophisi. Thompson le Thompson liphatsa tsa lefutso tsa bongaka. La 8th. Philadelphia, PA: Elsevier; 2016: khaolo ea 12.

Wapner RJ, Dugoff L. Tlhahlobo ea bakhachane ea mathata a tlhaho. Ka: Resnik R, Lockwood CJ, Moore TR, Greene MF, Copel JA, Silver RM, li-eds. Creasy le Resnik's Maternal-Fetal Medicine: Melao-motheo le Tloaelo. La 8th. Philadelphia, PA: Elsevier; 2019: khaolo ea 32.