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
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
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
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
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 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 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
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
L’iter diagnostico per giungere ad un corretto management del paziente con nefrolitiasi costituisce un tema centrale dell’attività clinica del nefrologo. Negli ultimi anni i tassi di incidenza e prevalenza della nefrolitiasi hanno mantenuto un trend in continua crescita nel mondo, mostrando una stretta correlazione con altre patologie croniche quali diabete mellito, ipertensione arteriosa, obesità, sindrome … Leggi tutto
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