1 Institute of Genetic Medicine, Newcastle University, International Centre for Life, Newcastle NE1 3BZ, United Kingdom
2 Lithotripsy Unit, Freeman Hospital, Newcastle NE7 7DN, United Kingdom
* Corresponding author Email:
The genetics underlying the idiopathic hypercalciuria leading to calcium-containing renal stones remains elusive. The discovery of rare monogenic tubulopathies, often leading to hypercalciuria, has increased our understanding of tubular physiology and pathophysiology. However, insights into idiopathic calcium stone formation have not been gained from these disorders. The aim of this study is to examine CYP24A1 mutations in cohorts of patients with calcium nephrolithiasis.
Materials and Methods
We examined two cohorts of stone-forming patients for mutations in CYP24A1, which encodes the vitamin D24-hydroxylase enzyme. The first cohort had a biochemical phenotype of suppressed parathyroid hormone and high normal serum calcium, whilst the second cohort had a hypercalciuria phenotype. We did not identify bi-allelic sequence variants in CYP24A1 in our cohorts.
In cohort 1, we identified 9 known s-equence variants. In cohort 2 we identified 7 known sequence variants.
CYP24A1 mutations remain a rare cause of calcium nephrolithiasis and hypercalciuria.