This review provides an overview of the genetic aspects cystinuria, as well novel pharmacotherapeutics that could potentially be used to treat disease. Cystinuria is inherited disorder characterized by formation painful stones in kidneys, bladder, and other parts renal system. Currently, mutations responsible for cystinuria have been identified two genes (SLC3A1 SLC7A9 ), patients are categoriz...

1. Urinary stones 1.1 Pathogenesis 1.2 Classification of stones 1.2.1 Calcium stones 1.2.2 Uric Acid Stones 1.2.3 Magnesium Ammonium Phosphate Stones, struvite or infection stones 1.2.4 Cystine 1.3 Risk factors 1.3.1 Non-genetic factors 1.3.1.1 Diet 1.3.1.2 Body size 1.3.1.3 Environment 1.3.2 Genetic factors 2. Other urological stones: Testicular microlithiasis 3. Biliary and gallbladder stones...

OBJECTIVES Urolithiasis is a considerable economic burden for health systems, especially in industrialised countries where the incidence of stone disease has increased during the last few decades, and probably will further increase for several reasons. METHODS The survey was based on investigations in collaboration with a German health insurance company and on a literature search (PubMed, and...

Kidney stone formers may feel doomed to a life of unpredictable flank pain, periodic surgical intervention, and concomitant loss of work and daily pleasures. Indeed, if untreated, those who have formed one calcium oxalate stone have a 50% chance of forming additional stones within 10 years (Menon & Resnick, 2002). With appropriate education, patients can exercise some control over stone disease...

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...

Cystinuria is a rare autosomal recessive metabolic disorder of renal and intestinal cystine transport. Cystine stones are found in only 1-2% of all stone formers. Patients with cystinuria are at high risk for nephrolithiasis and subsequent morbidity. Our patient is a 37-year-old male who presented for routine follow-up for polycystic kidney disease (PKD). He denied any history of passing nephro...

The urinary amino acid patterns in parents of four cystine stone formers were investigated in order to determine the genetic types of the cystinuric families. The concentrations of urinary cystine, lysine, arginine and ornithine in the subjects were compared with those in heterozygotes of cystinuria reported by Harris and Rosenberg. All of the subjects except one who excreted the amino acids in...

By using intraoperative papillary biopsy material from kidneys of idiopathic calcium oxalate, intestinal bypass for obesity, brushite, cystine, and distal renal tubular acidosis stone formers during percutaneous nephrolithotomy, we have determined that idiopathic calcium oxalate stone formers appear to be the special case, although the most commonly encountered one, in which stones form externa...

PURPOSE The aim of this study was to evaluate the biochemical stone composition in general population of Qom province, central Iran, and its relationship with high tap water hardness. MATERIALS AND METHODS In a prospective study, from March 2008 to July 2011, biochemical analysis of urinary stones in patients living in Qom province for at least 5 years was performed. Stones were retrieved by ...