Geneetika ja personaalmeditsiini kliinik, molekulaardiagnostika labor, tel. 731 9489, www.kliinikum.ee/geneetika
Dihüdropürimidiini dehüdrogenaasi (DPD) defitsiit on autosomaalne retsessiivne ainevahetushäire, mis on tingitud DPD vähenenud aktiivsusest. DPD on ensüüm, mida kodeerib DPYD geen. DPD osaleb 5-fluorouratsiili lagundamises. Inimesed, kellel on vähemalt üks mittefunktsionaalne DPYDgeeni koopia, ei pruugi 5-fluorouratsiili normaalse kiirusega metaboliseerida ja neil on risk eluohtliku toksilisuse tekkeks. Sümptomaatilise DPD vaeguse põhjustab tavaliselt DPYD mõlema alleeli inaktiveerumine. 5-fluorouratsiili toksilisuse nähtudeks on tugev kõhulahtisus, mukosiit, neutropeenia, neurotoksilisus ja peopesadel ning jalataldadel tekkiv punetus, turse ja/või villid.
DPYD genotüübi määramine ravieelselt aitab vähendada tõsiseid kõrvaltoimeid. DPD-puudulikkuse esinemissagedus on umbes 3–5%.
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