Primary hyperoxaluria in Italy: the past 30 years and the near future of a (not so) rare disease.

Background: Primary hyperoxalurias (PHs) are rare autosomal recessive diseases of the glyoxylate metabolism; PH1 is caused by mutations in the AGXT gene, PH2 in GRHPR and PH3 in HOGA1.

Methods: Here we report the first large multi-center cohort of Italian PH patients collected over 30 years (1992-2020 median follow-up time 8.5 years).

Estimating 24-hour urinary excretion using spot urine measurements in kidney stone formers.

Background: One limitation of the use of 24-hour collection is impracticality. We analysed the performance of spot urine measurements to estimate 24-hour excretion in patients with kidney stones.

Methods: A total of 74 adult patients from two centres performed a 24-hour urine collection.

[A comparison between 24h urine collection and overnight spot urines in evaluating the risk of stone disease].

Despite being recommended by most guidelines, the metabolic evaluation of patients with nephrolithiasis has limited diffusion due to difficulties relating both to the access to laboratory investigations and to urine collection modalities. Consequently, in addition to the classical 24-h collection, alternative and simplified collection modes have been proposed. We report here on the comparison between metabolic evaluation carried out on 24-h double collection (Lithotest) and overnight spot urines (RF test).

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.