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Iter diagnostico e terapia della calcolosi

La nefrolitiasi è una malattia diffusa nella popolazione generale con una prevalenza in aumento negli ultimi anni. La sua rilevanza clinica è gravata dalla tendenza a recidivare comportando così un rischio aggiuntivo di complicanze sia renali (fino alla malattia renale cronica) che extrarenali (come la malattia metabolica dell’osso). D’altra parte l’inquadramento clinico della malattia può … 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