Conduct disorder

Novini vo pedijatrijata / Godi[na revija 2009
HIPOURIKEMIJA VO DETSKATA VOZRAST
Страна 181
Velibor Tasi],
Nefrolo[ki oddel,
Klinika za detski bolesti Skopje
Hupourikemija e laboratoriski parametar, koj ~esto e zanemaren vo sekojdnevnata
medicinska praktika. Arbitrarno e definirana kako serumska
vrednost na uri~na kiselina pomala od 2 mg% (118 micromol/l). Se smeta deka
hipourikemija se detektira kaj 2% od hospitalizirani bolni i vo 0.5%
kaj op[ta populacija. Generalno, hipourikemija nastanuva kako rezultat
na namalena hepatalna produkcija na uri~na kiselina (hereditarna ili
steknata inhibicija na enzimot ksantin oksidaza) ili poradi nagolemen
tubularen gubtok na urat. Vo ovoj revijalen trud posebno vnimanie e posveteno
na idiopatska renalna hipourikemija, ~ija molekularna osnova e
mutacija vo URAT1 transporterot (SLC22A12 genot). Klini~ki konsekvenci
kaj idiopatska renalna hipiourikemija se nefrolitijaza i akutna bubre`na
insuficiencija inducirana so naporni fizi~ki ve`bi kaj pacienti koi
[to nosat mutacii vo SLC22A12 genot. Nie sme detektirale idiopatska renalna
hipourikemija kaj makedonski deca i sme otkrile 2 novi mutacii. Za
prv pat hipourikemija zaradi SLC22A12 mutacija e dijagnosticirana von vo
Japonija i Koreja kaj belata populacija.
Klu~ni zborovi: hipourikemija, bubre`na insuficiencija, URAT1
Hypouricemia is a laboratory parameter which is frequently neglected in the everyday
medical practice. Arbitrary it is defined as serum uric levels lower than 2 mg/dl
(118 micromol/l). It is believed that hypouricemia is found in 2% of hospitalized
patients and in 0.5% of general population. Generally hypouricemia results from
decreased hepatic production of uric acid (hereditary of acquired inhibition of the
enzyme xanthine oxidase) or due to increased tubular loss of urate. In this review
particular attention is devoted to idiopathic renal hypouricemia, which molecular
basis is mutation in URAT1 transporter (SLC22A12 gene). Clinical consequences of
idiopathic renal hypouricemia are nephrolithiasis and acute renal failure induced
after strenuous exercise in patients carrying mutations in SLC22A12 gene. We have
diagnosed idiopathic renal hypouricemia in Macedonian children and detected two
novel mutations. For the first time hypouricemia due to SLC22A11 mutations was
diagnosed out of Japan and Korea in Caucasian population.
Key words: hypouricemia, renal failure, URAT1