An abnormal erythrocyte transmembrane oxalate flux was described in recurrent idiopathic calcium nephrolithiasis. To verify whether it might represent a risk marker of renal stone disease, two prospective studies were carried out. One hundred ninety patients with idiopathic calcium nephrolithiasis who were enrolled at their first episode of lithiasis during the period 1984 to 1986, form the bas...

OBJECTIVE To determine the frequency of metabolic abnormalities in the serum and urine of patients with urinary stones disease. METHODS Two hundred patients with either multiple or recurrent urolithiasis diagnosed on ultrasonography and intravenous urography were included in this study. 24 hour urine sample were collected from each patient and sent for PH, specific gravity, Creatinine, uric a...

ed with poor feeding, respiratory distress and decreased urine output. He was noted to be in the 1st percentile for weight, and 60th percentile for height. At admission he was hypertensive with systolic blood pressures ranging from 107-124 mmHg and diastolic pressures of 6672 mmHg. Physical exam was remarkable for fussiness and decreased musculoskeletal tone for age. Labs demonstrated hemoglobi...

A 31-year-old male presented with recurrent renal stones from the age of 12 years and renal failure secondary to nephrolithiasis on hemodialysis for the past 6 years. He had been born of a consanguineous union and one out of his five siblings also had a history of renal failure secondary to nephrolithiasis. He had moderate anemia. Abdominal X-ray showed bilateral nephrocalcinosis with multiple ...

INTRODUCTION Kidney stones are a common problem worldwide with substantial morbidities and economic costs. Medical therapy reduces stone recurrence significantly. Much progress has been made in the last several decades in improving therapy of stone disease. AREAS COVERED This review discusses i) the effect of medical expulsive therapy on spontaneous stone passage, ii) pharmacotherapy in the p...

Knowledge of the incidence of a disease in successive generations of a family has value beyond the basis it provides for prediction of the health of future generations. Should the incidence suggest inheritance according to simple Mendelian rules, the disease probably has its origin in abnormality of a single genetic particle, though this has never been directly demonstrated. Garrod (1908) linke...

1. Evidence of deficiency of, antagonism to, or abnormal dependency upon pyridoxine has been sought in four patients with primary hyperoxaluria. The urinary excretion of kynurenine, 3-hydroxykyurenineY 3-hydroxyanthranilic acid, kynurenic acid and xanthurenic acid, before and after a loading dose of L-tryptophan was used to assess pyridoxine nutrition. 2. Three of the four patients studied had ...

Anion transporters NaS1 (SLC13A1) and Sat1 (SLC26A1) mediate sulfate (re)absorption across renal proximal tubule and small intestinal epithelia, thereby regulating blood sulfate levels. Disruption of murine NaS1 and Sat1 genes leads to hyposulfatemia and hypersulfaturia. Sat1-null mice also exhibit hyperoxalemia, hyperoxaluria, and calcium oxalate urolithiasis. This review will highlight the cu...

BACKGROUND Primary hyperoxaluria type I (PH1) is a rare genetic disorder characterized by allelic and clinical heterogeneity. Four mutations (G170R, 33_34insC, I244T and F152I) account for more than 50% of PH1 alleles and form the basis for diagnostic genetic screening for PH1. We aimed to analyze the prevalence of these specific mutations causing PH1, and to provide an accurate tool for diagno...

1. Oxalate crystals may occur in the CSF with ethylene glycol poisoning or primary hyperoxaluria type 1. Ethylene glycol is metabolized by alcohol dehydrogenase to form glycolic and oxalic acids. 2. Serum electrolytes and osmolality can be measured, and the anion and osmolar gaps can be calculated. Ethylene glycol poisoning is associated with an increased osmolar gap and increased anion gap met...