Navigating the Genetic Tapestry Using Genetic Analysis on the SLC26A1 Gene Variants in the Detection and Understanding of Kidney Stones for Improved Global Healthcare Management

There is now a notable increase in the prevalence of hereditary diseases and kidney stones worldwide. Genetic illnesses, such as cystinuria, dental disease, and primary hyperoxaluria, are believed to have a widespread impact, affecting millions of people worldwide. Moreover, there has been a consistent increase in the prevalence of kidney stones over the last several decades, with certain groups having an estimated lifespan risk of up to 12%. This alarming pattern requires immediate investigation to tackle the increasing prevalence of kidney stones in persons with genetic predispositions. The research in this chapter focuses on the SLC26A1 gene, which can identify and provide insights into the molecular mechanisms behind calcium oxalate stones in the kidneys. The work explores previously unexplored ground by identifying biallelic variants in SLC26A1. This highlights the need to do thorough research to improve the detection and treatment of kidney stones. The chapter briefly discusses SLC26A1, the potential gene for the prediction of kidney stones in humans, and can help in early prediction if the gene is studied based on changes in mutation in the future.

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