To the best of our knowledge, the presented case is the first one in the literature. [ncbi.nlm.nih.gov]

We report a case of a 3-year-old boy with Lesch-Nyhan disease who presented with recurrent obstructing xanthine stones. [wjnu.org]

The pa-tient presented with a 2-year history of intermi-ttent left flank associated with macroscopic hematuria explored by ultrasonography at 7 years of age, which was reported as normal. [go.gale.com]

Approximately 50 % of the patients with classical hereditary xanthinuria present with symptoms of urinary tract infection, hematuria, renal colic, acute renal failure, crystalluria or urolithiasis. [orpha.net]

Jasmin Paris and Ana Jacinto both presented an abstract presentation at the 2012 ECVIM Congress which was recently held in Maastricht. [ed.ac.uk]

• Pain

  Kidney stones are a common cause of blood in the urine and pain in the abdomen, flank, or groin. Kidney stones occur in 1 in 20 people at some time in their life. [medicinenet.com]

  Clinical Presentation The classic adult presentation of sudden, debilitating flank pain is uncommon in children. [pedsinreview.aappublications.org]

  The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. [ncbi.nlm.nih.gov]

  They may cause pain, nausea, vomiting, hematuria, and, possibly, chills and fever due to secondary infection. Diagnosis is based on urinalysis and radiologic imaging, usually noncontrast helical CT. [msdmanuals.com]

• Asymptomatic

  However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrectomy and renal failure. [ncbi.nlm.nih.gov]

  However asymptomatic, and therefore undiagnosed, stones may invade the kidney and urinary tract, resulting in destruction of parenchyma, nephrec-tomy and renal failure. [go.gale.com]

  More than 50% of all children do not develop calculi. [1] The younger brother of the first patient was asymptomatic and did not have calculi. [sjkdt.org]

  Family study revealed an asymptomatic xanthinuria in younger brother. The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. [pubmed.ncbi.nlm.nih.gov]

• Abdominal Pain

  The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. [ncbi.nlm.nih.gov]

  Two weeks before hospitalization, the patient had abdominal pain and vomited frequently, and later presented with gross hematuria. [sjkdt.org]

• Heart Disease

  CONTINUE SCROLLING OR CLICK HERE FOR RELATED SLIDESHOW SLIDESHOW Heart Disease: Causes of a Heart Attack See Slideshow [medicinenet.com]

• Hematuria

  The second patient was a 5-year-old boy who had a 2-week history of abdominal pain and gross hematuria. Conventional excretory intravenous urography showed a non-functioning right kidney. [go.gale.com]

  We confirmed the presence of macroscopic hematuria with no hypertension or renal failure. [sjkdt.org]

• Flank Pain

  pain and hematuria All stones contain an organic matrix of mucoprotein Types of stones Calcium oxalate / phosphate (75%) : due to hypercalciuria (idiopathic, 50%), hypercalcemia (infants may have high Vitamin D levels, Iran J Kidney Dis 2012;6:186 ), [pathologyoutlines.com]

  Clinical Presentation The classic adult presentation of sudden, debilitating flank pain is uncommon in children. [pedsinreview.aappublications.org]

  Reexamining the value of hematuria testing in patients with acute flank pain. J Urol. 1999 Sep. 162(3 Pt 1):685-7. [Medline]. Dangle PP, Bandari J, Lyon TD, Lee A, Ayyash O, Cannon GM Jr, et al. [emedicine.medscape.com]

  Low-dose computed tomography for the evaluation of flank pain in the pregnant population. J Endourol. 2007;21:1255-60. [ Links ] 45. White WM, Johnson EB, Zite NB, Beddies J, Krambeck AE, Hyams E, et al. [scielo.cl]

• Macroscopic Hematuria

  The pa-tient presented with a 2-year history of intermi-ttent left flank associated with macroscopic hematuria explored by ultrasonography at 7 years of age, which was reported as normal. [go.gale.com]

  We confirmed the presence of macroscopic hematuria with no hypertension or renal failure. [sjkdt.org]

• Nephrolithiasis

  Introduction Nephrolithiasis occurs following a complex interaction of environment and heredity. [pedsinreview.aappublications.org]

  This case illustrates a complication of high-dose allopurinol therapy in the treatment of uric acid nephrolithiasis. FULL TEXT [annals.org]

  Riese RJ, Sakhaee K: Uric acid nephrolithiasis: Pathogenesis and treatment. J Urol148:765–771, 1992 Asplin JR: Uric acid stones. [wwjournals.com]

  The process of stone formation, urolithiasis, is also called nephrolithiasis. [medicinenet.com]

  At his present age of 15 years, the patient remains free of nephrolithiasis. Serum uric acid levels in the patient's mother and father were normal. [sjkdt.org]

• Hyperuricemia

  They may also occur in association with states of profound hyperuricemia such as myeloproliferative disease after treatment with allopurinol. If the underlying disorder is not addressed, a high risk of stone recurrence exists. [ncbi.nlm.nih.gov]

  Yu T (2018) Urolithiasis in Hyperuricemia and GoutJournal of Urology, VOL. 126, NO. 4, (424-430), Online publication date: 1-Oct-1981. [auajournals.org]

  Factors predisposing to kidney stones include recent reduction in fluid intake, increased exercise with dehydration, medications that cause hyperuricemia (high uric acid) and a history of gout. [medicinenet.com]

  […] by polarized light; are accompanied by foreign body giant cells and macrophages Struvite (triple stones, magnesium ammonium phosphate, 15%) : due to urea splitting bacteria (Proteus, Staphylococcus); produce staghorn calculi Uric acid (6%) : due to hyperuricemia [pathologyoutlines.com]

Stone Treatment with Extracorporeal ShockWave 928 Thoracoscopy as an Aid to Safer Intercostal Percutaneous 934 Subject Index 1059 946 Urheberrecht [books.google.de]

Therefore, to raise clinical awareness, we reviewed and report our experience in the treatment of patients with these stones, discussing the underlying pathophysiology and approach to treatment. [ncbi.nlm.nih.gov]

Management and treatment There is no curative treatment. Low purine diet and high fluid intake is recommended. Since the solubility of xanthine is not affected by urinary pH, alkalization is of no value. [orpha.net]

Prognosis The overall prognosis is favorable, even though, in some cases, the disease progresses to end-stage renal insufficiency. The documents contained in this web site are presented for information purposes only. [orpha.net]

Disease and Nutrient Intake in Italy 749 The Significance of Annual Rhythms for the Excretion of Lithogenic 757 The Effect of Fasting on Urinary Stone Risk 765 Stone Formers in Saudi Arabia 769 Statistics of Stone Analysis in Childhood Urolithiasis 777 Prognosis [books.google.de]

Treatment and prognosis Indications for surgical management include: larger stones, typically that above 5 mm in size extended duration of symptoms location of the stone, with proximal calculi less likely to spontaneously pass infection or septic features [radiopaedia.org]

Etiology Hereditary xanthinuria is due to mutations in the xanthine dehydrogenase (XDH, 2p23.1) or molybdenum cofactor sulfurase (MOCOS, 18q12.2) genes, resulting in failure to degrade hypoxanthine and xanthine to uric acid and leading to the accumulation [orpha.net]

As pediatric urolithiasis with a metabolic etiology is the most common disease, evaluating the metabolic risk factors in patients is necessary to both effectively treat current stones and prevent recurrence. [nature.com]

The presence of mixed stones suggests a multi factorial etiology. [alliedacademies.org]

Uric acid Hyperuricosuria is not always associated with hyperuricemia and is seen in a variety of settings (see above), although in most instances uric acid stones occur in patients with no identifiable underlying etiology 6. [radiopaedia.org]

Changes in stone composition according to age and gender of patients: A multivariate epidemiological approach. Urol Res 2004; 32: 241-7. Daudon M. Epidemiology of nephrolithiasis in France. Ann Urol 2005; 39: 209-31. [alliedacademies.org]

Summary Epidemiology Prevalence of hereditary xanthinuria is not known, but about 150 patients have been described so far. Annual incidence has been estimated to be between 1:6,000 and 1:69,000. [orpha.net]

Re: epidemiological trends in pediatric urolithiasis. Editorial comment. J. Urol. 18, 1104–1105 (2010). 5. Routh, J. C., Graham, D. A. & Nelson, C. P. [nature.com]

Epidemiological trends in pediatric urolithiasis at United States freestanding pediatric hospitals. J Urol. 2010 Sep. 184(3):1100-4. [Medline]. Bush NC, Xu L, Brown BJ, Holzer MS, et al. [emedicine.medscape.com]

Robust capillary electrophoresis methods for biomarker discovery and routine measurements in clinical and epidemiological applications. March 2017 [ Link ] Eosinophilic esophagitis (). Mordechai, Hien, and David S. Wishart.. [hmdb.ca]

Therefore, to raise clinical awareness, we reviewed and report our experience in the treatment of patients with these stones, discussing the underlying pathophysiology and approach to treatment. [ncbi.nlm.nih.gov]

In addition, interest in disease prevention continues to grow and understanding basic questions and the underlying pathophysiology of stone disease will help optimize management strategies. [books.google.de]

Xanthine oxidoreductase: role in human pathophysiology and in hereditary xanthinuria. In: Scriver CR, Beaudet AL, Sly WS, Valle D(eds) The metabolic and molecular bases of inherited diseases,8 th edn. New York. McGraw-Hill., 2001,2639-52. 2. [sjkdt.org]

In addition, interest in disease prevention continues to grow and understanding basic questions and the underlying pathophysiology of stone disease will help optimize management strategies. [books.google.de]

This may be effectively prevented by administration of allopurinol; however, its overdosage may result in xanthinuria and xanthine urolithiasis. [ncbi.nlm.nih.gov]

Xanthine uroli-thiasis is usually a benign condition, easy to prevent or cure by appropriate alkalinization, forced hydration and restriction of dietary purines. [go.gale.com]