[Kelley-Seegmiller syndrome].
BACKGROUND
Hypoxanthinguanin-phosphoribosyltransferase (HPRT) deficiency, an x-linked inherited disease can cause two presentations: A complete deficiency (Lesch-Nyhan syndrome) accompanies with grave renal and neurological symptoms. A second form is the partial enzyme deficiency (Kelley-Seegmiller syndrome).


METHODS
We present a thirteen year old boy with relapsing hyperuricemia and hypercreatininemia. In the framework of postoperative renal insufficiency the diagnose of a Kelley-Seegmiller syndrome was elaborated.


RESULTS
About 25% of patients with Kelley-Seegmiller syndrome present mild neurological symptoms but never with self-destructive behavior. Pathophysiological an increased de novo purinsynthesis is present. Therefore, it comes to an overproduction of urine acid. Urolithiasis is one clinical manifestation.


CONCLUSIONS
Relapsing urolithiasis and renal insufficiency has to be worked up. In the differential diagnosis a disorder of purine metabolism has to be discussed.
Brunner
J
J
Department für Kinderheilkunde, Medizinische Universität Innsbruck, Austria. juergen.brunner@uklibk.ac.at
Lotschütz
D
D
D000493:Allopurinol / Q000627:therapeutic use; D001706:Biopsy; D002648:Child; D002951:Citrates / Q000627:therapeutic use; D003404:Creatinine / Q000097:blood*; D003937:Diagnosis, Differential; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D033461:Hyperuricemia / Q000150:complications / Q000175:diagnosis; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency*; D007668:Kidney / Q000473:pathology; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis; D008297:Male; D051437:Renal Insufficiency / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000473:pathology; D000077559:Sodium Citrate; D013577:Syndrome; D016896:Treatment Outcome; D014463:Ultrasonography; D052878:Urolithiasis / Q000209:etiology*
D002951:Citrates; D006074:Gout Suppressants; D000077559:Sodium Citrate; D000493:Allopurinol; D003404:Creatinine; D007041:Hypoxanthine Phosphoribosyltransferase