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Genetic Risk of Oxalate Kidney Stones

Updated: May 27, 2023

You will find MTHFR and SLC34A1 on the Allergen Panel in the imaet software.

Kidney stones, also known as renal calculi, are solid deposits that form in the kidneys from substances in the urine. These stones can cause significant pain and discomfort and lead to serious complications if not treated promptly. Calcium oxalate stones are the most common among the different types of kidney stones, accounting for around 70-80% of cases. Recent research has shed light on the genetic factors contributing to the risk of developing kidney stones, specifically oxalate stones.

Genetic Factors in Oxalate Kidney Stones The risk of developing kidney stones, particularly oxalate stones, is influenced by a complex interplay between genetic, environmental, and lifestyle factors. Several genetic factors have been identified that can increase the risk of oxalate kidney stones. For instance, gene mutations such as AGXT, GRHPR, and HOGA1 can cause primary hyperoxaluria, a rare inherited disorder resulting in oxalate overproduction and an increased risk of stone formation.

Other genetic factors that can increase the risk of kidney stones include variants in genes related to calcium metabolism (CASR), phosphate homeostasis (SLC34A1), and tight junctions in the kidney (CLDN14). Folate deficiency caused by impaired MTHFR activity might lead to increased urinary excretion of oxalates, as folate is required to properly metabolize certain amino acids that can be converted into oxalates. While these SNPs do not guarantee the development of kidney stones, they may contribute to an increased risk in combination with other genetic and environmental factors.

Other Contributing Factors In addition to genetic factors, environmental and lifestyle factors can significantly influence the risk of developing kidney stones. These factors include:

  • Dehydration: Inadequate fluid intake can lead to concentrated urine, increasing the likelihood of stone formation.

  • Diet: A diet high in salt, protein, and oxalate-rich foods (e.g., spinach, rhubarb, nuts) can contribute to kidney stone formation.

  • Obesity: Higher body mass index (BMI) is associated with an increased risk of kidney stones.

  • Medical conditions: Certain medical conditions, such as hyperparathyroidism, inflammatory bowel disease, and urinary tract infections, can increase the risk of kidney stones.

Treatment Options The treatment of kidney stones depends on the stone's size, location, composition, and the patient's overall health. Common treatment options include:

  • Conservative management: For small stones, increasing fluid intake, taking pain medications, and using medications to help pass the stone (e.g., alpha-blockers) may be sufficient.

  • Dietary modifications, such as reducing salt and oxalate-rich foods, can also help prevent future stone formation.

  • Extracorporeal shock wave lithotripsy (ESWL): This non-invasive procedure uses high-energy shock waves to break kidney stones into smaller fragments, which can then be passed through the urinary tract.

  • Ureteroscopy: A thin ureteroscope is inserted through the urethra and bladder to reach the kidney stone. The stone can be removed directly or broken into smaller fragments using a laser or other tools.

  • Percutaneous nephrolithotomy (PCNL): In this surgical procedure, a small incision is made in the back, and a nephroscope is used to remove larger kidney stones directly from the kidney.

  • Parathyroid surgery: In cases where hyperparathyroidism is the underlying cause of kidney stones, surgery to remove the overactive parathyroid gland(s) may be recommended.

Alternative treatments Several alternative or complementary treatments and lifestyle modifications can be used alongside conventional medical treatments to help prevent and manage oxalate kidney stones.

  • Herbal remedies: Some herbal remedies have been used traditionally to treat kidney stones or improve kidney function. For example, Chanca Piedra is a plant believed to help break down and prevent kidney stones.

  • Vitamin and mineral supplements: Certain supplements, such as magnesium and vitamin B6, may help reduce the risk of kidney stone formation. .

  • Acupuncture: Some studies have suggested that acupuncture may help alleviate pain and promote relaxation in individuals with kidney stones.

  • Biofeedback: Biofeedback techniques may help some individuals manage pain and stress associated with kidney stones by teaching them to control certain physiological processes, such as muscle tension and heart rate.

Conclusion Genetic, environmental, and lifestyle factors influence the risk of developing oxalate kidney stones. If you are concerned about your risk of developing kidney stones, consult with a healthcare professional for personalized advice and recommendations. "Info from LiveWello, LLC"

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