BACKGROUND Patients with medullary sponge kidney (MSK) commonly encounter recurrent nephrolithiasis. The existing knowledge on safety of donors with MSK has not been studied. METHODS We conducted a retrospective cohort study at a tertiary referral hospital to assess the outcomes of living kidney donors with MSK. All adults with MSK (N = 26) who underwent nephrectomy as living kidney donors be...

Mutations in the human gene that encodes the AE1 Cl(-)/HCO(3)(-) exchanger (SLC4A1) cause autosomal recessive and dominant forms of distal renal tubular acidosis (dRTA). A mouse model that lacks AE1/slc4a1 (slc4a1-/-) exhibited dRTA characterized by spontaneous hyperchloremic metabolic acidosis with low net acid excretion and, inappropriately, alkaline urine without bicarbonaturia. Basolateral ...

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...

UNLABELLED BAKCGROUND: Urinary stones disease is common pathology encountered in urological practice in Nepal. Supersaturated urine and its stagnation are well known facts for the development of urolithiasis. Metabolic disorders like hypercalciuria, hyperuricaemia, hypocitraturia are also responsible for formation of urolithiasis. OBJECTIVE The aim of this study was to identify the level of c...

BACKGROUND Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of...

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...

Enhanced sodium excretion is associated with intrarenal oxidative stress. The present study evaluated whether oxidative stress caused by high sodium (HS) may be involved in calcium oxalate crystal formation. Male rats were fed a sodium-depleted diet. Normal-sodium and HS diets were achieved by providing drinking water containing 0.3% and 3% NaCl, respectively. Rats were fed a sodium-depleted di...

BACKGROUND Patients with cystic fibrosis (CF) are at high risk of nephrolithiasis (NL), but controversy still exists in terms of causes, including low urine output, hypercalciuria, hyperoxaluria, hyperuricosuria and hypocitraturia. Moreover, heterozygotes (H-CF), which may exhibit altered renal concentrating and diluting ability, have never studied so far. We, therefore, evaluated the metabolic...

BACKGROUND Autosomal recessive distal renal tubular acidosis (dRTA) is a rare disease characterized by a hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia, nephrocalcinosis, and conserved glomerular filtration rate. In some cases, neurosensorial deafness is associated. dRTA is developed during the first months of life and the main manifestation...