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Kelley-Seegmiller syndrome as cause of recurrent acute kidney injury
in 9-year-old boy
1
Oddział Dziecięcy, Szpital Międzyrzecki Sp. z o.o., Międzyrzecz
2
Zakład Biochemii, Katedra Biochemii i Chemii Medycznej, Pomorski Uniwersytet Medyczny, Szczecin
3
Zakład Chemii Medycznej, Katedra Biochemii i Chemii Medycznej, Pomorski Uniwersytet Medyczny, Szczecin
Corresponding author
Tomasz Jarmoliński
Oddział Dziecięcy, Szpital Międzyrzecki Sp. z o.o., ul. Konstytucji 3 Maja 35, 66-300 Międzyrzecz
Oddział Dziecięcy, Szpital Międzyrzecki Sp. z o.o., ul. Konstytucji 3 Maja 35, 66-300 Międzyrzecz
Ann. Acad. Med. Siles. 2017;71:116–121
KEYWORDS
Kelley-Seegmiller syndromehypoxanthine-guanine phosphoribosyltransferase deficiencyacute kidney injuryhyperuricemiahyperuricosuria
TOPICS
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.
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