Mutations in the SLC34A2 gene, which encodes a type IIb sodium-phosphate cotransporter, are responsible for this disease, leading to intra-alveolar accumulation of phosphate that favors the formation of microliths.
Patients with silent stones had higher parathyroid hormone (PTH) and lower 25OH-vitamin D (25OHD) levels and more frequently experienced microlithiasis than patients with symptomatic renal stones.