IMPACT OF MONOGENIC DISORDERS AND CALCIUM METABOLISM POLYMORPHISMS IN KIDNEY STONE

Kidney stone disease is a common urological disorder that affects nearly 10% of
the global population. It is a multifactorial condition influenced by both genetic
and metabolic factors. Disturbances in calcium metabolism play a major role in
stone formation, and these metabolic processes are tightly regulated by various
hormonal mechanisms. Genetic factors, particularly monogenic disorders and
genetic polymorphisms, also contribute significantly to the development of kidney
stones by altering calcium metabolism. Monogenic stone disorders arise due to
inherited mutations in genes responsible for mineral metabolism and renal
tubular transport in the kidney. Several inherited conditions, including Dent
Disease, Cystinuria, and Primary Hyperoxaluria, are associated with recurrent
stone formation. In addition to these rare genetic mutations, genetic
polymorphisms also influence susceptibility to kidney stone disease. Genetic
polymorphism refers to the occurrence of common DNA sequence variation among
individuals within a population. Variations in genes involved in calcium
regulation, such as the Calcium-Sensing Receptor and the Vitamin D Receptor,
play an important role in maintaining calcium homeostasis