E36 Clinical presentation of unusual purine urolithiasis: hereditary xanthinuria and adenine phosphoribosyltransferase deficiency

E36 Clinical presentation of unusual purine urolithiasis: hereditary xanthinuria and adenine phosphoribosyltransferase deficiency

THURSDAY 10 SEPTEMBER 2015 / EUROPEAN UROLOGY SUPPLEMENTS 14 (2015) 29–78 43 E35 Magnesium, citrate and phytate: Effect of their binary mixtures as ...

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THURSDAY 10 SEPTEMBER 2015 / EUROPEAN UROLOGY SUPPLEMENTS 14 (2015) 29–78

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E35 Magnesium, citrate and phytate: Effect of their binary mixtures as calcium oxalate crystallization inhibitors in urine

E36 Clinical presentation of unusual purine urolithiasis: hereditary xanthinuria and adenine phosphoribosyltransferase deficiency

Rodriguez A., Costa-Bauza A., Prieto R.M., Berga F., Grases F. University of the Balearic Islands, University Institute of Health Science Research, Palma of Majorca, Spain

Cao Avellaneda E.1, Rodríguez Tardido A.1, Sala Lafuente L.1, Castañeda Sancirilo M.2, Hernando Holgado A.M.2, Montoya Chinchilla R.1, Jiménez Penick F.J.1, García Espona C.1, Moreno Avilés J.1 1Hospital General Universitario Santa Lucía, Dept. of Urology, Cartagena, Spain, 2Hospital General Universitario Santa Lucía, Dept. of Clinical Analysis, Cartagena, Spain

Introduction and objectives: Magnesium, citrate and phytate are three well known calcium oxalate crystallization inhibitors [1–3]. Furthermore, magnesium and citrate form complexes with oxalate and calcium respectively, reducing their free concentration in urine. Until now, the majority of the in vitro studies have been made with an inhibitor alone, which do not reflect their combined physiological presence in urine. The aim of this study is to evaluate the capacity of magnesium, citrate and phytate and their binary mixtures to inhibit calcium oxalate crystallization. Materials and methods: A turbidimetric assay in synthetic urine was performed to obtain induction times for calcium oxalate crystallization in the absence and presence of different mixtures of inhibitors. The morphology of calcium oxalate crystals in the absence or presence of inhibitors and their mixtures was evaluated using scanning electron microscopy (SEM). Results: Crystallization induction times revealed clear inhibitory effects of magnesium, citrate and phytate on calcium oxalate crystallization, supporting their utility in the treatment and prevention of calcium oxalate nephrolithiasis. Significant synergistic effects between magnesium and phytate were observed (figure 1). SEM images disclosed that phytate is a powerful crystal growth inhibitor of calcium oxalate, totally preventing the formation of both trihydrate and monohydrate. In addition to their crystallization inhibition capacity, citrate and magnesium avoided calcium oxalate crystallization by decreasing its supersaturation.

Fig. 1. Induction times for calcium oxalate crystallization in the presence of different concentrations of magnesium and phytate.

Conclusions: The synergistic effect between magnesium and phytate on inhibition of calcium oxalate crystallization suggests that a combination of these two compounds may be highly useful in antilithiasic therapy. References 1. Massey L (2005) Magnesium therapy for nephrolithiasis. Magnes Res 18:123-126 2. Pak CY (1991) Citrate and renal calculi: new insights and future directions. Am J Kidney Dis 17:420-425 3. Grases F, Isern B, Sanchis P et al (2007): Phytate acts as an inhibitor in formation of renal calculi. Front Biosci 12:2580-2587

Introduction and objectives: The radiolucent stones are a common problem in practice, even in young people. Mainly due to uric acid, there are compositions derived from other disturbances of purine metabolism. Hereditary xanthinuria and deficit adenine fosforribosiltranferasa are those, being his only manifestation crystalluria, can be confused with uric. Common features are shared in their presentation: Youth patients, usually large at diagnosis and positivity in murexide reaction in the chemical analysis of the calculus. If a study is not performed by infra-red spectroscopy and posterior specific metabolic analysis, may erroneously be encompassed. Materials and methods: We present two cases recently treated in our Department of purine xanthine and 2.8-dihidroxyadenine urolithiasis. We develop representative clinical, analytical, spectroscopic and imaging findings for each type, establishing differential diagnosis versus another case of uric lithiasis treated. We review the literature available on the topic. Results: - Xanthine oxidoreductase deficiency was diagnosed in 22 year old male, who presented with right flank pain due to pelvic lithiasis obstructive radiolucent 4 cm. Percutaneous nephrolithotomy was performed with total removal. Spectroscopic analysis diagnosed xanthine composition; subsequent metabolic study showed hipouricemia and extreme hipouricosuria. Dietary treatment based in restricting purine food and increased fluid intake keep him free of new episodes. - Adenine phosphoribosyltransferase deficiency was detected in 23 year old male who came referred from another center on the left hydronephrosis due to a radiolucent calculation of 2 cm proximal ureter. Semirrigid and flexible ureterorenoscopy was required for total removal. Spectroscopic examination confirmed the composition of 2.8-dihidroxyadenine; subsequent metabolic study detected no abnormalities. He started treatment with allopurinol and increased fluid intake without new episodes up to now. Conclusions: In the diagnostic and therapeutic approach of radiolucent calculi in young patients must be taken into account the possibility of other options than uric stones. In these cases, an analysis obtained by calculation spectroscopy and complete posterior metabolic evaluation will lead us to appropriate treatment to prevent further recurrences. E37 Evolution of urinary lithiasis in Spain over the last four decades. A retrospective study of 2,704 lithiases Martín-Way D.A., Puche-Sanz I., Pascual-Geler M., FloresMartín J.F., Vázquez-Alonso F., Cózar-Olmo J.M.,Bio-Healthe Research Institute (Instituto De Investigación Biosanitaria Ibs. granada). University Hospital Complex Granada, Dept. of Urology, Granada, Spain Introduction and objectives: The aetiopathogenesis of lithiasic disease is determined from endogenous and exogenous factors, which vary from one population to another and over time. The objective of this research is to obtain an updated description