Lefu la Krabbe

Lefu la Krabbe ke lefu le sa tloaelehang la lefutso la tsamaiso ea methapo. Ke mofuta oa lefu la boko o bitsoang leukodystrophy.

Sekoli ho file GALC liphatsa tsa lefutso li baka lefu la Krabbe. Batho ba nang le bothata bona ba liphatsa tsa lefutso ha ba etse ntho e lekaneng (enzyme) e bitsoang galactocerebroside beta-galactosidase (galactosylceramidase).

'Mele o hloka enzyme ena ho etsa myelin. Myelin e pota-potile ebile e sireletsa likhoele tsa methapo. Ntle le enzyme ena, myelin ea senyeha, lisele tsa boko lia shoa, 'me methapo bokong le libakeng tse ling tsa' mele ha e sebetse hantle.

Lefu la Krabbe le ka hlaha ka lilemo tse fapaneng:

• Lefu la pele la Krabbe le hlaha likhoeling tsa pele tsa bophelo. Boholo ba bana ba nang le mofuta ona oa lefu ba shoa pele ba fihla lilemo tse peli.
• Boloetse ba morao-rao ba Krabbe bo qala bongoaneng kapa lilemong tsa bocha.

Lefu la Krabbe le futsitsoe, ho bolelang hore le fetisoa ke malapa. Haeba batsoali ka bobeli ba jere kopi e sa sebetseng ea lefutso e amanang le boemo bona, ngoana e mong le e mong oa bona o na le monyetla oa 25% (1 ho 4) oa ho ba le lefu lena. Ke bokuli bo fetelletseng ba autosomal.

Boemo bona ha bo fumanehe hangata. E atile haholo bathong ba litloholo tsa Scandinavia.

Matšoao a lefu la pele la Krabbe ke:

• Ho fetola molumo oa mesifa ho tloha ho floppy ho ea ho o thata
• Ho utloa tahlehelo e lebisang ho utloeng litsebeng
• Ho hloleha ho atleha
• Mathata a ho fepa
• Ho teneha le ho utloahala melumo e phahameng
• Ho oa haholo (ho ka qala ho sa le monyane haholo)
• Feberu e sa hlaloseheng
• Pono ea tahlehelo e isang bofofu
• Ho hlatsa

Ha lefu la Krabbe le qala, mathata a pono a ka hlaha pele, a lateloa ke mathata a ho tsamaea le mesifa e thata. Matšoao a fapana ho ea ka batho. Matšoao a mang a ka boela a hlaha.

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

Liteko tse ka etsoang li kenyelletsa:

• Teko ea mali ho batla maemo a galactosylceramidase liseleng tse tšoeu tsa mali
• Kakaretso ea protheine ea CSF e leka palo ea protheine e leng cerebrospinal fluid (CSF)
• Ho etsa liteko tsa lefutso bakeng sa sekoli sa liphatsa tsa lefutso tsa GALC
• MRI ea hlooho
• Lebelo la ho khanna methapo

Ha ho na kalafo e khethehileng bakeng sa lefu la Krabbe.

Batho ba bang ba kentsoe 'moko masapong a pele a lefu lena, empa kalafo ena e na le likotsi.

Lisebelisoa tsena li ka fana ka tlhaiso-leseling e batsi ka lefu la Krabbe:

• Mokhatlo oa Naha oa Mathata a Rare - rarediseases.org/rare-diseases/leukodystrophy-krabbes
• Referense ea Lehae la NIH Genetics - ghr.nlm.nih.gov/condition/krabbe-disease
• Mokhatlo oa United Leukodystrophy Foundation - www.ulf.org

Sephetho se kanna sa ba sebe. Ka karolelano, masea a nang le lefu la pele la Krabbe a shoa pele ho lilemo tse 2. Batho ba hlaoang ke lefu lena hamorao ba pholohetse ho ba batho ba baholo ba nang le lefu la tsamaiso ea methapo.

Lefu lena le senya tsamaiso ea methapo e bohareng. E ka baka:

• Bofofu
• Ho se utloe litsebeng
• Mathata a maholo ka molumo oa mesifa

Hangata lefu lena le beha bophelo kotsing.

Ikopanye le mofani oa hau haeba ngoana oa hau a hlaha matšoao a lefu lena. E-ea kamoreng ea maemo a tšohanyetso a sepetlele kapa letsetsa nomoro ea lehae ea maemo a tšohanyetso (joalo ka 911) haeba matšoao a latelang a hlaha

• Ho oa
• Ho lahleheloa ke kelello
• Boemo bo sa tloaelehang

Ho eletsoa batho ba nang le nalane ea malapa ea lefu la Krabbe ba nahanang ho ba le bana.

Ho ka etsoa tlhahlobo ea mali ho bona hore na o na le lefutso la lefu la Krabbe.

Liteko tsa bakhachane (amniocentesis kapa chorionic villus sampling) li ka etsoa ho leka lesea le ntseng le hola bakeng sa boemo bona.

Globoid seleng ea leukodystrophy; Khaello ea Galactosylcerebrosidase; Khaello ea Galactosylceramidase

Grabowski GA, Burrow TA, Leslie ND, Prada CE. Maloetse a polokelo ea lysosomal. Ka: Orkin SH, Fisher DE, Ginsburg D, Sheba AT, Lux SE, Nathan DG, eds. Nathan le Oski's Hematology le Oncology ea Bacha le ea bongoana. La 8th. Philadelphia, PA: Elsevier Saunders; 2015: khaolo ea 25.

Baruti ba GM, Wang RY. Maloetse a polokelo ea lysosomal. Ka: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. Swaiman's Pediatric Neurology: Melao-motheo le Tloaelo. La 6th. Philadelphia, PA: Elsevier; 2017: khaolo ea 41.