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Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency is the second most common, after xanthinuria, inherited defect of purine metabolism. Described in 1967 in patients with gout and nephrolithiasis, the KelleySeegmiller syndrome is caused by HPRT partial deficiency. A complete lack of enzyme activity leads to additional severe neurobehavioral symptoms with self-mutilation creating clinical a picture known since 1964 as the Lesh-Nyhan Received: 19.02.2017 Revised: 23.02.2017 Accepted: 05.03.2017 Published online: 28.04.2017 Adres do korespondencji: Dr n. med. Tomasz Jarmoliński, Oddział Dziecięcy, Szpital Międzyrzecki Sp. z o.o., ul. Konstytucji 3 Maja 35, 66-300 Międzyrzecz, tel. +48 605 069 827, e-mail: tjarmo@wp.pl Copyright © Śląski Uniwersytet Medyczny w Katowicach www.annales.sum.edu.pl H. Marciniak i wsp.: ZESPÓŁ KELLEYA-SEEGMILLERA 117 syndrome. Enzymatic and molecular analyses useful for precise diagnosis are not routinely available in Poland, so the prevalence of HPRT defects is very low. Here we presented a case of a 9-year-old boy suffering from recurrent acute kidney injury (4 episodes) with diagnosis of the Kelley-Seegmiller syndrome based on the clinical picture and simple laboratory tests confirmed by evaluation of HPRT enzyme activity.

Kelley-Seegmiller syndrome as cause of recurrent acute kidney injury in 9-year-old boy