Cystinuria is a relatively uncommon cause of pediatric stone disease, but has significant morbidity if not properly controlled because of its significant stone recurrence rate. Cystinuria is caused by the inability of the renal tubules to reabsorb filtered cystine, which
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association, 27(5), 1729-1736 (2012-05-02)
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis.
The Journal of clinical endocrinology and metabolism, 96(12), 3733-3740 (2011-10-07)
Dietary intake of animal proteins is associated with an increase in urinary calcium and nephrolithiasis risk. We tested the hypothesis that the acid load imposed by dietary proteins causes this hypercalciuria. In a short-term crossover metabolic study, an alkali salt
International braz j urol : official journal of the Brazilian Society of Urology, 37(5), 611-616 (2011-11-22)
To evaluate the preventive effects of alkaline citrate on stone recurrence as well as stone growth post-ESWL or PCNL in patients with calcium-containing stones. A total of 76 patients with calcium calculi who were stone-free or had residual stones less
Clinical and experimental nephrology, 15(5), 745-748 (2011-06-01)
Fanconi-Bickel syndrome is a rare autosomal recessive disorder characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction and impaired utilization of glucose and galactose. Most cases have been reported from Europe, Japan, Turkey and the Mediterranean belt. We report a
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