Kelley-Seegmiller syndrome as cause of recurrent acute kidney injury in 9-year-old boy
Journal Title: Annales Academiae Medicae Silesiensis - Year 2017, Vol 71, Issue
Abstract
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 Kelley-Seegmiller 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 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.
Authors and Affiliations
Hanna Marciniak, Tomasz Jarmoliński, Krzysztof Safranow, Katarzyna Jakubowska, Maria Olszewska, Dariusz Chlubek
Keywords
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- EP ID EP355689
- DOI 10.18794/aams/69292
- Views 101
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