Nephrolithiasis is caused by genetic abnormalities

The solubility of chemicals in the urinary system is affected by risk factors, which are frequently linked to the prevalence of renal stones. Although primary, or hereditary, reasons are uncommon, it is crucial to identify them in order to initiate the proper treatments and acknowledge the hazards to other family members.

The research of renal stones from a biochemical standpoint is briefly summarized, with an emphasis on potential issues. The disorders of Adenine Phosphoribosyl Transferase (APRT) deficiency, primary hyperoxaluria, cystinuria, and autosomal dominant distal renal tubular acidosis are used to describe the genetic basis of renal stone disease caused by (i) Derangement of a metabolic pathway, (ii) Diversion to an insoluble product, (iii) Failure of transport, and (iv) Renal tubular acidosis.