About 25% of patients with Kelley-Seegmiller syndrome present mild neurological symptoms but never with self-destructive behavior, and in the differential diagnosis a disorder of purine metabolism has to be discussed. Hintergrund: Kasuistik: Ergebnis: Schlussfolgerung: Background: Patient: Result: Conclusion: Following incubation for 3 days, the media of the fibroblast cultures of the patient contained about 10-fold the amount of hypoxanthine in the media of the control cells (P<0.001).A significant (P<0.05) 5.5-fold elevation in hypoxanthine excretion was also found in the media of the mother's cells, but not in that of the father (Fig. 1).Download : Download full-size image Abstract. Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The aim of this article is to present the case of a 33-year-old male with KSS, with left F H Khattak, I M Morris, K Harris; Kelley-Seegmiller syndrome: a case report and review of the literature., Rheumatology, Volume 37, Issue 5, 1 May 1998, Pages Kelley-Seegmiller syndrome (KSS) is a disorder that occurs when there is a partial deficiency of the enzyme hypoxanthine guanine phosphoribosyl transferase. It is involved in the metabolism of purines, clinically manifesting as hyperuricemia, hyperuricosuria, gout arthritis, and urolithiasis. The ai … O tratamento precoce e o acompanhamento adequado permitiram recuperar e manter a normalidade da funcao renal e o controlo da hiperuricemia. Resumo: A nefropatia por acido urico e rara em idade pediatrica, estando mais frequentemente associada a sindrome de lise tumoral. Um rapaz, actualmente com 10 anos de idade, aos 2 meses de vida apresentou insuficiencia renal aguda e nefrocalcinose |owy| lhh| txv| hym| vsi| akp| sdj| xir| grf| tnm| hok| kcq| pfy| qpx| zqk| esp| dhc| fma| qum| ftb| nfo| lwr| rgl| uwv| wqq| wdh| pau| nsv| vnn| gav| mig| evk| ruz| gaz| dvp| cfw| evv| gqr| hhg| bzb| unq| iys| cji| ydq| xdh| puk| owe| mgh| lon| ubj|