LITHORISK.COM: the novel version of a software for calculating and visualizing the risk of renal stone

Estimation of state of saturation with stone-forming salt represents a reliable tool to assess the overall risk. The available methods are based on computer-assisted ab initio calculations. Our earlier method URSUS was subsequently substituted by Lithorisk®, a software including visualization of risk profiles…  After digiting input variables (urea and creatinine also included) in a fixed … Leggi tutto

Concomitant Urinary Triple Phosphate and Cystine Crystals

A 37-year-old man with cystinuria was seen in the nephrology clinic for routine follow-up. He had received a diagnosis of cystinuria at 1 year of age, when he had presented with nephrolithiasis and pyelonephritis; subsequent workup had shown elevated 24-hour cystine urinary excretion and homozygous variants in the gene SLC3A1. … n engl j med … Leggi tutto

ABC’s of medical management of STONES.

This publication is printed and distributed  for educational purposes by  MISSION PHARMACAL COMPANY  San Antonio, TX 78230-1355 Acknowledgment is made to  the following people for expert guidance  on the development of this booklet 0 0 0 0

2 – Nephrocalcinosis and urolithiasis in children Kidney International (2012) 82, 493–497; doi:10.1038/ki.2012.142

Correction to: Kidney International (2011) 80:1278–1291; doi:10.1038/ki.2011.336 In the above-cited article, Table 2 was published with incorrect alignment of age ranges and erroneous unit changes concerning the cystine and urate excretion levels. The urate gram units needed to be multiplied by 10. In Table 1, the diagnosis related to NPT2a mutations should read ‘Urolithiasis, osteoporosis, … Leggi tutto

Genetics of kidney stone disease

Kidney stone disease (nephrolithiasis) is a common problem that can be associated with alterations in urinary solute composition including hypercalciuria. Studies suggest that the prevalence of monogenic kidney stone disorders, including renal tubular acidosis with deafness, Bartter syndrome, primary hyperoxaluria and cystinuria, in patients attending kidney stone clinics is ∼15%. However, for the majority of … Leggi tutto

Genetics of kidney stone disease—Polygenic meets monogenic

Kidney stone disease comprising nephrolithiasis and nephrocalcinosis is a clinical syndrome of increasing prevalence with remarkable heterogeneity. Stone composition, age of manifestation, rate of recurrence, and impairment of kidney function varies with underlying etiologies. While calcium-based kidney stones account for the vast majority their etiology is still poorly understood. Recent studies underline the notion that … Leggi tutto

Cystinuria: clinical practice recommendation

. This clinical practice recommendation provides guidance on all aspects of the management of both adults and children with cystinuria, including diagnosis, surgery, and medical treatment. 0

Genetic defects underlying renal stone disease

Renal stones are common and are usually secondary to risk factors affecting the solubility of substances in the urinary tract. Primary, that is genetic, causes are rare but nevertheless are important to recognise so that appropriate treatments can be instigated and the risks to other family members acknowledged. A brief overview of the investigation of … Leggi tutto