UNLABELLED Dent disease is a rare X-linked tubulopathy with low molecular weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis and progressive renal failure. We describe the case of a 9-year-old boy who presented with nephrotic-range albuminuria at the age of 3 years. In the absence of a clear diagnosis, a renal biopsy was performed at 4 years, which revealed minimal change dis...

Renal idiopathic stone disease affects about 8% of the Italian population. The most common form in western countries (70- 80% of the cases) is calcium nephrolithiasis, with stones formed mainly by calcium oxalate and phosphate. One of the main metabolic anomalies that is often associated with calcium nephrolithiasis is hypercalciuria. Primary hypercalciuria is a metabolic defect characterized b...

patients and methods this study was a randomized double-blind placebo-controlled clinical trial. a hundred boys with pmne and ihc were randomly assigned into two groups of experimental (treated with hct 1 mg/kg/day) and control and all patients were followed for 4 months for the number of wet-night episodes. results the mean numbers of wet-night episodes in the first (intervention: 8.34 ± 8.54,...

background wilson’s disease (wd) is a rare autosomal-recessive disorder characterized by a mutation in the atp7b gene, located on chromosome 13, which encodes a protein involved in the metabolism of copper. case presentation we described the case of an indian male with a history of polydipsia and polyuria, related to hypercalciuria and consequent nephrocalcinosis. the symptoms began at the age ...

Background: The application of extracorporeal shock wave lithotripsy (ESWL) to calcium oxalate dihydrate (COD) renal calculi gives excellent fragmentation results. Nevertheless, the retention of postESWL fragments within the kidney is still an important trouble. The aim of this paper is to study the regrowth of COD real spontaneously passed post-ESWL calculi fragments as a function of urinary c...

detected in ten of the fourteen patients, and BAO and MAO were significantly higher than in controls and comparable with acid output in patients with duodenal ulcer (table). These results suggest that increased gastric acid output could be a feature of absorptive hypercalciuria. If ionisation of dietary calcium is a prerequisite for calcium absorption, gastric acid hypersecretion might help to ...

The combination of hypercalcaemia, hypercalciuria, and nephrocalcinosis with and without renal impairment is rare in paediatric clinical practice. However, this constellation of findings has been reported in three children with trisomy 21, but the absence of detailed nutritional data has failed to clarify the underlying pathogenesis. This report describes a 4 year old girl with trisomy 21 who w...

Idiopathic hypercalciuria (IH) is a common familial trait among patients with calcium nephrolithiasis. Previously, we have demonstrated that hypercalciuria is primarily due to reduced renal proximal and distal tubule calcium reabsorption. Here, using measurements of the clearances of sodium, calcium, and endogenous lithium taken from the General Clinical Research Center, we test the hypothesis ...