BACKGROUND AND OBJECTIVES In medullary sponge kidney (MSK)-a common malformative renal condition in patients with calcium nephrolithiasis-hypercalciuria, incomplete distal renal tubular acidosis, and hypocitraturia are common. Clinical conditions with concomitant hypercalciuria and/or incomplete distal renal tubular acidosis are almost invariably associated with bone disease, making osteopathy ...

BACKGROUND AND OBJECTIVES Increased bone resorption, low bone formation, and abnormal mineralization have been described in stone formers with idiopathic hypercalciuria. It has been previously shown that the receptor activator of NF-κB ligand mediates bone resorption in idiopathic hypercalciuria (IH). The present study aimed to determine the expression of fibroblast growth factor 23 (FGF-23), v...

BACKGROUND Mutations of the CYP24A1 gene, which encodes the 1,25-dihydroxyvitamin D-24-hydroxylase cytochrome P450, Cyp24A1, are predicted to result in elevated 1,25-dihydroxyvitamin D concentrations, hypercalcemia, hypercalciuria, nephrolithiasis, and bone disease. Treatment of hypercalcemia associated with CYP24A1 gene mutations has not been described. METHODS The genetic basis of a syndrom...

BACKGROUND Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a rare autosomal recessive renal disease characterized by tubular disorders at the thick ascending limb of Henle's loop. It is caused by mutations in the tight junction structural proteins claudin-16 or claudin-19, which are encoded by the CLDN16 and CLDN19 genes, respectively. Patients exhibit excessive wasting of c...

Recent data suggest a causal role of deranged 1,25(OH)2D metabolism in the syndrome of idiopathic hypercalciuria. To test this hypothesis, we evaluated if vitamin D availability and/or increased serum 1,25(OH)2D were critical for the expression of hypercalciuria in laboratory rats. Ca balance, serum 250HD3, and 1,25(0H)D3 were studied in D-deprived (-D) and D-repleted (+D) male progeny (p) born...

Introduction: Up to 15% of children under the age 15 may have paediatric urolithiasis, which is linked with severe morbidity and high recurrence rates. This condition still a serious urological concern. In 86% 96.1% kids kidney stone disorders, metabolic abnormalities are one most frequent causes urolithiasis. Hypercalciuria, hyperoxaluria, hyperuricosurea, hypocitraturea prevalent disorders. o...

BACKGROUND Among many factors predisposing to monosymptomatic enuresis (MNE) disturbances in urinary electrolites excretion play an important role. Because of many controversies in this field there is a need to debate the role of hypercalciuria in MNE. The aim of our study was to determine the urinary calcium in children with MNE. METHODS The investigation was conducted on 204 children (83 MN...

Dent’s disease (MIM #300009) is a rare X-linked disorder characterized by various degrees of proximal tubular (PT) dysfunction, nephrocalcinosis and nephrolithiasis. The exact prevalence is unknown. The disease was first reported by Dent and Friedman, who described two males with vitamin D resistant rickets, hypercalciuria and low molecular weight proteinuria (LMWP) (Dent & Friedman, 1964). Bas...