Gošē slimība

Gošē slimība ir reti sastopami ģenētiski traucējumi, ka rezultātā ir enzīma glikocerebrozidāzes nepietiekamība vai trūkums. Šis enzīms ir nepieciešams, lai sašķeltu jeb sadalītu taukveida molekulas, ko sauc par cerebrozīdiem. Pacietiem ar Gošē slimību ķermeņa orgānos un audos uzkrājas uzkrājas šīs taukveida molekulas, radot to funkciju bojājumu.

Ir trīs galvenie Gošē slimības tipi:

1. tips (neneiropātisks) — visbiežāk sastopamais tips ar mainīgiem simptomiem un progresiju.
2. tips (akūts neiropātisks) — akūta, smaga forma, kas ietekmē zīdaiņu un mazu bērnu centrālo nervu sistēmu.
3. tips (hronisks neiropātisks) — hroniska forma, kas ietekmē centrālo nervu sistēmu un laika gaitā progresē.

Gošē slimība katram izpaužas citādi, un pacientu simptomi ievērojami atšķiras –

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izdarīt, nekā tas bija agrāk. Var novērot, ka

vieglāk rodas zilumi.

Visbiežāk sastopamās 1. tipa Gošē slimības klīniskās pazīmes ir šādas: Goshe slimiba
  • Nogurums
  • Kaulu sāpes
  • Viegli veidojas zilumi
  • Palielinātas aknas
  • Palielināta liesa
 
 
 
 
 
 
Vairāk informācijas par Gošē slimību atradīsiet:
http://gošē.lv/lv/sakums