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ģenētiska lizosomāla saslimšana, kas pārmantojas ar X hromosomu – mutācija GLA gēnā noved pie enzīma alfa-galaktozidāzes A deficīta. Rezultātā organismā netiek sašķelta taukviela, ko sauc par globotriaozilceramīdu (Gb3) un tā uzkrājas dažādos audos un orgānos, radot atbilstoši bojājuma simptomus.

Agrīnie simptomi:
Vēlāk pievienojas:
  • sirds – hipertrohiska kardiomiopātija, ritma traucējumi;
  • nieru traucējumi – no olbaltuma izdalei urīnā līdz nieru darbības traucējumiem;
  • centrālā nervu sistēma – insulti, reiboņi.

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Vairāk informācijas par Fabri slimību atradīsiet:
http://fabri.lv/lv/sakums