Management of genetically determined kidney stone disease: consensus from a panel of urologists and nephrologists

Available evidence suggests that monogenic causes of kidney stones are likely under-diagnosed, particularly in young adults, needing expert multidisciplinary recommendations to improve diagnosis, management and therapeutic outcomes. To increase the awareness among the medical community on the recognition of the signs and symptoms of genetically determined kidney stone disease in adult patients, with a special focus on primary hyperoxaluria (PH), a group of nephrologists and urologists started a consensus process through the Delphi method.

A list of 40 statements (23 regarding genetically determined stone disease and 17 regarding primary hyperoxaluria) was defined by the authors and included in an online Delphi survey, which was sent to 16 urologists and 22 nephrologists with expertise in managing patients with kidney stone disease. An agreement threshold of 75% was established for consensus.

After two rounds of Delphi voting, consensus was reached for 33 statements, 18 regarding genetically determined stone disease and 15 regarding PH.

The Delphi process highlighted several areas of agreement with regard to the characteristic or anamnestic data suggesting diagnostic investigation, optimal diagnostic patterns, treatment strategies and management of patients with genetically determined nephrolithiasis. The process also highlighted some grey areas, which deserve further investigation and highlight the need for educational initiatives focused on rare diseases in the field of kidney stones.