oxalates and Purine-Pyrimidine-Metabolism--Inborn-Errors

We report on a girl who was diagnosed with classical hereditary xanthinuria due to an incidental finding of extremely low Levels of uric acid in the blood. The girl is compLetely asymptomatic. Hereditary xanthinuria is a rare autosomal recessive disease that usually causes early urolithiasis but may cause rheumatoid arthritis-like disease and even be associated with defects in the formation of bone, hair and teeth. In Israel it has mostly been described in patients of Bedouin origin. Throughout the world, only about 150 cases have been described; about two thirds of these patients were asymptomatic. Since the clinical presentation and age of symptom appearance are diverse, the case raises questions as to the required follow-up of these patients and as to whether a low oxalate diet should be initiated.

Topics: Arabs; Asymptomatic Diseases; Child, Preschool; Diet Therapy; Disease Management; Female; Humans; Incidental Findings; Israel; Monitoring, Physiologic; Oxalates; Purine-Pyrimidine Metabolism, Inborn Errors; Treatment Outcome; Uric Acid; Watchful Waiting; Xanthine

Urolithiasis in children is a very important problem from the theoretical as well as from practical point of view. Better knowledge of its metabolic basis may allow to move the central treatment from surgical to prophylactic methods. The study presents modern view points on mechanisms for concrements sedimentation and actual data on metabolic disturbances in calcium, oxalates, purines, xanthines and cystine and their relations to urolithiasis and urinary tract infection.

Topics: Acidosis, Renal Tubular; Calcium; Child; Cystinuria; Humans; Hypercalcemia; Oxalates; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Urinary Calculi; Urinary Tract Infections; Xanthines

Topics: Adenosine Deaminase; Amino Acid Metabolism, Inborn Errors; B-Lymphocytes; Child; Consanguinity; Female; Humans; Immunoglobulins; Immunologic Deficiency Syndromes; Kidney Calculi; Lymphocytes; Male; Nucleoside Deaminases; Oxalates; Pedigree; Purine-Pyrimidine Metabolism, Inborn Errors; Rosette Formation; T-Lymphocytes

The causes of, and physiopathological factors underlying the most common metabolic disorders implicated in the formation of renal stones are reviewed. These include hypercalciuria, hyperoxaluria, renal tubular acidosis, cystinuria and disturbances of purine metabolism. Apart from metabolic disorders the risk of stone formation is also influenced by a low inhibitor activity in urine. Though some aspects in the pathogenesis of urolithiasis remain uncertain, the exact knowlege of important aetiological factors of stone formation is the basis of correct treatment and the prevention of recurrence of urinary calculi.

Topics: Acidosis; Adult; Calcium; Cystinuria; Humans; Kidney Tubules; Male; Oxalates; Purine-Pyrimidine Metabolism, Inborn Errors; Uric Acid; Urinary Calculi; Urography