The kidney plays a critical role in regulating water homeostasis through specific proteins highly expressed in the kidney, called aquaporins, allowing water permeation at a high rate. This brief review focuses on some nephropathies associated with impaired urinary concentrating ability and in particular analyzes the role of aquaporin 2 in hypercalciuria, the most common metabolic abnormality in...

Idiopathic calcium nephrolithiasis and hypercalciuria are multifactorial disease conditions, the pathogenesis of which involves the interaction of environmental and individual factors. Data support a strong role of genes in the pathogenesis of these two conditions. Findings obtained in monogenic disorders characterized by renal calcium stones, and/or hypercalciuria, and/or nephrocalcinosis have...

Clinical, biochemical, and ultrasonographic findings in 91 consecutive children presenting with hypercalciuria were analyzed along with the results of treatment to determine the clinical profile of hypercalciuria and its outcome. Hypercalciuria was common in children aged 1-5 years (39.6%), and hematuria was the most frequent symptom. There was no significant difference between 24-hour urinary ...

Dent's disease is an X-linked inherited disorder characterized by hypercalciuria, nephrocalcinosis, nephrolithiasis, low molecular weight proteinuria, Fanconi's syndrome, and renal failure. It is caused by inactivating mutations in CLC5, a member of the CLC voltage-gated chloride channel family. CLC5 is known to be expressed in the endosomal compartment of the renal proximal tubule, where it ma...

Idiopathic hypercalciuria (IH) is characterized by the excess excretion of calcium, despite normal levels calcium in blood and no apparent cause. In recent years, this metabolic disorder become more common to diagnose children can cause various urinary symptoms.

prevalence of urolithiasis in childhood is increasing. the wide geographic variation in the incidence of lithiasis in childhood is related to climatic, dietary, and socioeconomic factors. many children with stone disease have a metabolic abnormality. in southeast asia, urinary calculi are endemic and are related to dietary factors. the main aim of this study was to determine the prevalence of r...