Kalabbe lefu ke boemo bo senyang bo amang tsamaiso ea methapo
Boloetse ba Krabbe, bo tsejoang hape e le globoid cell leukodystrophy, ke lefu le senyehang la liphatsa tsa lefutso le amang tsamaiso ea methapo. Batho ba nang le lefu la Krabbe ba na le liphetoho liphatseng tsa lefutso la GALC. Ka lebaka la liphetoho tsena, ha li hlahise enzyme ea galactosylceramidase e lekaneng. Ho haella hona ho lebisa ho lahleheloa ke mokhoa o sireletsang oa lisele tse sireletsang lisele tsa methapo, e bitsoang myelin .
Ntle le ts'ireletso ena, methapo ea rona e sitoa ho sebetsa hantle, e senya boko ba rona le tsamaiso ea rona ea methapo.
Kalafo ea Krabbe e ama batho ba ka bang 1 ho ba 100 000 lefatšeng lohle, ba nang le likotsi tse kholo tse tlalehiloeng libakeng tse ling tsa Iseraele.
Matšoao a mafu a Krabbe
Ho na le likaroloana tse 'nè tsa lefu la Krabbe, e' ngoe le e 'ngoe e na le matšoao a eona le matšoao a eona.
| Mofuta oa 1 | Infantile | E qala pakeng tsa likhoeli tse 3 ho isa ho tse 6 |
| Mofuta oa 2 | Lekhoa la moshanyana | E qala pakeng tsa likhoeli tse 6 le lilemo tse tharo |
| Mofuta oa 3 | Bacha | E qala pakeng tsa lilemo tse 3 ho isa ho tse robeli |
| Mofuta oa 4 | Ho qala ho batho ba baholo | E qala ka nako leha e le efe ka mor'a lilemo tse 8 |
Kaha lefu la Krabbe le ama lisele tsa methapo ea matšoao, matšoao a mangata ao a bakoang ke 'ona a kelello. Mofuta oa 1, mofuta oa bonyane, o supa karolo ea 85 ho isa ho 90 lekholong ea linyeoe. Mofuta oa 1 o tsoela pele ka mekhahlelo e meraro:
- Mothati oa 1: O qala likhoeli tse tharo ho isa ho tse tšeletseng ka mor'a ho tsoaloa. Bacha ba amehileng ba khaotsa ho hlaolela le ho halefa. Li na le molumo o motle oa mesifa (mesifa e thata kapa e thata) le ho senya mathata.
- Mothati oa 2: Ho senyeha ha lisele tse potlakileng haholoanyane, ho lebisang ho lahleheloa ke tšebeliso ea mesifa, ho eketsa molumo oa mesifa, ho koala morao le ho senya pono. Lintho li ka 'na tsa qala.
- Mothati oa 3: Ngoana o fetoha ea foufetseng, ea sa utloeng litsebeng, ea sa tsebeng hore na o pota-potile hokae, le ea tsitsitseng ka thata. Bophelo ba bana ba nang le Mofuta oa 1 bo ka ba likhoeli tse 13.
Mefuta e meng ea lefu la Krabbe e qala ka mor'a nako e tloaelehileng ea ntshetsopele. Mefuta ena e boetse e tsoela pele butle ho feta ea Mofuta oa 1. Hangata bana ha ba phele lilemo tse fetang tse peli kamora 'Mofuta oa 2 o qala. Tšepo ea bophelo ea Mefuta ea 3 le ea 4 e fapana, 'me matšoao a ka' na a se ke a ba matla haholo.
Kamoo lefu la Krabbe le fumanoang kateng
Haeba matšoao a ngoana a bontša lefu la Krabbe, ho ka etsoa tlhahlobo ea mali ho bona hore na ba na le bothata ba galactosylceramidase, ba netefatsang lefu la Krabbe. Ho koaheloa ha lumbar ho ka etsoa ho etsisa cerebrospinal fluid. Mefuta e mengata ea protheine e phahameng e ka bontša lefu lena. E le hore ngoana a tsoaloe a e-na le bothata, bobeli ba batsoali ba lokela ho jara liphatsa tsa lefutso tse hlahisitsoeng ka chromosome 14. Haeba batsoali ba jara liphatsa tsa lefutso, ngoana oa bona ea e-s'o tsoaloe a ka hlahlojoa ke ho haella ha galactosylceramidase. Linaheng tse ling li fana ka tlhahlobo ea lefuba la Krabbe le sa tsoa tsoaloa.
Phekolo
Ha ho pheko bakeng sa lefu la Krabbe. Liphuputso tsa morao tjena li 'nile tsa supa li-hematopoietic stem cell transplantation ( HSCT ), lisele tsa stem tse fetohang lisele tsa mali, e le phekolo ea boemo boo. HSCT e sebetsa hantle ha e fuoa bakuli ba e-s'o bonahatse matšoao kapa ba nang le matšoao a bonolo.Tlhahlobo e sebetsa hantle ha e fuoa khoeling ea pele ea bophelo.
HCST e ka thusa batho ba nang le mafu a ho qetela kapa ba fokolang le ba bang ba nang le lefuba le hlahang habonolo haeba ba fanoa kapele ka ho lekaneng. Le hoja HCST e ke ke ea phekola lefu lena, le ka fana ka boleng bo ntlafetseng ba bophelo - ho lieha ho tsoela pele ho kula le ho eketsa nako ea bophelo. Leha ho le joalo, HCST e na le likotsi tsa eona 'me e na le palo ea batho ba shoang ea karolo ea 15 lekholong.
Phuputso ea morao-rao ke ho etsa lipatlisiso tsa phekolo e lebisang ho batho ba nang le litlamorao tsa ho ruruha, phekolo ea phekolo e entsoeng ka enzyme, therapy ea gene, le transplantation ea neural stem cell. Meriana ena ea phekolo kaofela e mekhahlelo ea tsona ea pele 'me ha e e-s'o ekele liteko tsa kliniki.
Litaba tsa sehlooho sena li nkiloe ho:
Tegay, DH (2014). Lefu la Krabbe. eMedicine.