allopurinol and Nephrocalcinosis

Kidney stones are common, and most of them are of the calcium oxalate type. Metabolic evaluation ranging from extensive to cursory has been recommended by different experts; however, some evaluation does seem warranted, even if only a single stone has occurred. Crystallographic analysis of the stone, if recovered, and measurement of urinary excretion of calcium and uric acid are indicated. Blood chemistries, measurement of urine pH, and measurement of urinary constituents besides calcium and uric acid are probably indicated as well, but controversy exists as to whether classification of hypercalciuria is necessary for management of most patients. Most, but not all, of the literature supports the use of thiazides to prevent calcium oxalate stones and the use of allopurinol in those calcium stone formers who have hyperuricosuria. In fact, allopurinol appears to be useful in patients with calcium stones even if no metabolic abnormality is discovered.

Topics: Allopurinol; Benzothiadiazines; Calcium Oxalate; Diuretics; Humans; Hydrogen-Ion Concentration; Hypercalcemia; Nephrocalcinosis; Phosphates; Sodium Chloride Symporter Inhibitors; Uric Acid

This report describes the clinical, biochemical and molecular data of a 78-year-old patient with xanthine dehydrogenase deficiency presenting as rheumatoid arthritis.. Xanthinuria type I is a rare disorder of purine metabolism caused by xanthine dehydrogenase (XDH) deficiency; fewer than 150 cases have been described in the literature so far.. We describe the clinical history and urine and serum findings of a 78-year-old patient with isolated XDH deficiency presenting as rheumatoid arthritis. The diagnosis was confirmed by mutation analysis.. The patient suffered from arthral symptoms and nephrocalcinosis. Very low concentrations of uric acid were observed in her serum and urine. The allopurinol loading test indicated her xanthinuria to be type I. Analysis of genomic DNA revealed novel heterozygous deletion in exon 8 (g.27073delC, p.214QfsX4) and previously published heterozygous nucleotide missense transition in exon 25 (g.64772-C>T, p.T910M).. Hereditary xanthinuria is a rare disorder, but it also needs to be considered in patients not originating from Mediterranean countries or the Near or Middle East. Urate concentration in serum and urine may provide an initial indication of XDH deficiency before high-performance liquid chromatography (HPLC) analysis is performed. The key to identifying the disorder is a greater awareness of XDH deficiency amongst primary care physicians, nephrologists, and urologists, but also rheumatologists. The diagnosis and therapeutic management requires a multidisciplinary approach.

Topics: Aged; Allopurinol; Arthritis, Rheumatoid; Biomarkers; Chromatography, High Pressure Liquid; DNA Mutational Analysis; Exons; Female; Genetic Predisposition to Disease; Genetic Testing; Heterozygote; Humans; Metabolism, Inborn Errors; Mutation, Missense; Nephrocalcinosis; Phenotype; Predictive Value of Tests; Sequence Deletion; Uric Acid; Xanthine Dehydrogenase

Topics: Allopurinol; Arthritis; Colchicine; Duodenal Ulcer; Gout; Humans; Hypertension; Indomethacin; Male; Middle Aged; Nephrocalcinosis; Synovial Fluid; Uric Acid

In 78 patients with hypomagnesemia in urolithiasis the clinical course of disease was established in relation to therapy and dynamics of changes of serum magnesium levels. Almost 70% of patients had multiple, bilateral or recurrent nephrolithiasis or nephrocalcinosis. 70% of patients had Ca-oxalate stones or bilateral nephrocalcinosis. In 52% of patients a long-term magnesium supplementation was necessary. Significant progress of nephrolithiasis and nephrocalcinosis was observed in 80% of patients with permanent hypomagnesemia and in 4% of patients with normalization of serum magnesium level. Three of 15 patients with hypomagnesemia and progress of disease were transplanted a kidney and two were treated by hemodialysis. All five patients with renal failure had bilateral nephrocalcinosis, in three of them familiar occurrence of nephrolithiasis and hypomagnesemia was found.

Topics: Adolescent; Adult; Aged; Allopurinol; Cation Exchange Resins; Cellulose; Child; Child, Preschool; Citrates; Drug Therapy, Combination; Female; Humans; Hydrochlorothiazide; Infant; Kidney Calculi; Kidney Transplantation; Magnesium Deficiency; Magnesium Oxide; Male; Middle Aged; Nephrocalcinosis; Penicillamine; Prognosis; Pyridoxine; Renal Dialysis

Topics: Adult; Allopurinol; Efficiency; Female; Gout; Humans; Kidney Diseases; Male; Middle Aged; Nephrocalcinosis; Prognosis; Synovial Membrane; Uric Acid

Topics: Adolescent; Adult; Alcohol Oxidoreductases; Child; Glycolates; Glyoxylates; Humans; Kidney; Ligases; Liver; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates; Oxidoreductases; Urinary Calculi; Vitamin B 6 Deficiency; Xanthine Oxidase

Topics: Adolescent; Adult; Allopurinol; Child; Child, Preschool; Female; Humans; Kidney Calculi; Male; Metabolism, Inborn Errors; Nephrocalcinosis; Oxalates

Topics: Acidosis, Renal Tubular; Alcohol Oxidoreductases; Allopurinol; Biopsy; Blood Urea Nitrogen; Calcium Metabolism Disorders; Disulfiram; Enzyme Repression; Glyoxylates; Humans; Kidney; Kidney Calculi; Kidney Failure, Chronic; Leukocytes; Nephrocalcinosis; Oxalates; Pyridoxine