Bijdrage van genetische varianten aan nefrolithiase

Nephrolithiasis is a common, frequently recurring condition with a reported prevalence of approximately 11% and a yearly incidence of approximately 2%.1,2 Although it primarily affects the kidney and urinary tract, nephrolithiasis is also linked to systemic conditions, such as cardiovascular disease, metabolic syndrome, and osteopenia. Several rare monogenic causes of nephrolithiasis are well characterized, but most cases are idiopathic and involve multiple contributing factors. These include environmental influences and systemic disturbances in calcium, phosphate, oxalate, uric acid, and acid-base balance, which can cause a variety of clinical presentations.