Comprehensive morpho-constitutional analysis of urinary stones improves etiological diagnosis and therapeutic strategy of nephrolithiasis

… A more comprehensive method combining careful morphologic examination of the surface and the section of stones with detailed FTIR analysis of the nature, location, crystalline phases and a respective proportion of stone constituents, therefore termed ‘morphoconstitutional’ analysis, as used in our laboratory for four decades provides more complete etiologic information. In common idiopathic CaOx … Leggi tutto

A lavatory urine color (LUC) chart method can identify hypohydration in a physically active population

To provide a new and efcient at-the-toilet-bowl method of self-assessing urine concentration via urine color (Uc) to identify hypohydration. … Urine color was scored similarly by subjects and investigators (P=0.99). Based on receiver operating curves (ROC), the method scored fair, i.e., the area under the curve ranging 0.73–0.82, with an accuracy of participants and investigators … Leggi tutto

Se son rose fioriranno. Uno strano caso di nefrolitiasi.

A 45-year-old woman affected by MEN-1 syndrome with a history of bilateral nephrolithiasis due to parathyroid adenoma (primary hyperparathyroidism) and celiac disease presented to the nephrologist for recurrent episodes of renal colic and urinary passage of small stones with an unusual morphology despite previous surgical removal of the parathyroid adenoma. A complete diagnostic workup ought … Leggi tutto

High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults

Hereditary tubulopathies are rare diseases with unknown prevalence in adults. Often diagnosed in childhood, hereditary tubulopathies can nevertheless be evoked in adults. Precise diagnosis can be difficult or delayed due to insidious development of symptoms, comorbidities and polypharmacy. Here we evaluated the diagnostic value of a specific panel of known genes implicated in tubulopathies in … Leggi tutto

Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure

Loss-of-function mutations of vitamin D-24 hydroxylase have recently been recognized as a cause of hypercalcaemia and nephrocalcinosis/nephrolithiasis in infants and adults. True prevalence and natural history of this condition are still to be defined.  … Probands had recurrent nephrolithiasis, chronic hypercalcaemia with depressed parathyroid hormone (PTH) and increased 1,25(OH)2D levels; carriers had nephrolithiasis (two of … Leggi tutto

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

Kidney Stone Academy

Un corso on line, oramai non più FAD, sulla Fisiopatologia della Calcolosi Renale. GLi AA sono la sicurezza che il corso vale assolutamente la pena di essere visto. https://medicalfree.it/corso/fisiopatologia-della-calcolosi-renale Marco Lombardi

Kidney Stones, Proteinuria and Renal Tubular Metabolic Acidosis: What Is the Link?

Kidney stone disease represents a rare cause of chronic kidney disease (2–3%) but has severe clinical consequences. Type 1 renal tubular acidosis is a strong lithogenic condition mainly related to primary Sjögren syndrome. This study aimed to illustrate an unusual presentation of Sjögren syndrome to improve the knowledge about rare kidney stone diseases, and to … Leggi tutto

Primary Hyperoxaluria

Primary hyperoxaluria is a rare autosomal recessive disorder involving the overproduction of oxalate by the liver that may go undiagnosed for years. Early symptoms include nephrocalcinosisand nephrolithiasis. As kidney function worsens, systemic oxalate deposition may occur, including in the joints,bones, eyes, and skin. … n engl j med 386;10 nejm.org March 10, 2022 0