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Kidney stones
URL of this page: https://medlineplus.gov/genetics/condition/kidney-stones/

Kidney stones

Description

Kidney stones are small, hard deposits that form in one or both kidneys. The stones are made up of minerals and other substances that are found in the urine. Kidney stones vary in size, shape, and color. To be cleared from the body, the stones travel through the ducts (ureters) that carry urine from the kidneys to the bladder and then leave the body during urination.

Depending on their size, kidney stones generally take days to weeks to pass from the kidney to the bladder. While some small stones pass through the kidneys, ureters, and bladder (urinary tract) with little discomfort, others can cause pain during this process. Larger kidney stones can block the flow of urine and impair kidney function. Stones that are difficult to clear can be removed with surgery.

Some people with kidney stones experience pain in their sides, back, groin, or belly. The pain may come and go, and the site of the pain can change as the stone moves through the urinary tract. In addition to pain, people with kidney stones can also experience nausea and vomiting.

Affected individuals may also feel a constant need to urinate and may experience pain while urinating. People with kidney stones may also have blood in their urine (hematuria) or an infection in the kidneys or urinary tract.

There are several types of kidney stones. The various types are made of different substances and have different causes, so knowing the specific type of kidney stone can help with treatment and prevention. Kidney stones that are mostly made of calcium (calcium stones) are the most common type.

Kidney stones occur most often in people between the ages of 40 and 60, although they can develop at any age. Research shows that up to 50 percent of people who have one kidney stone will develop additional stones. Kidney stones are also associated with an increased lifetime risk of chronic kidney disease (CKD) and kidney failure.

Frequency

Kidney stones affect approximately 10 percent of people worldwide. Research suggests that the prevalence of kidney stones is increasing.

Causes

Kidney stones can be caused by a variety of factors. In many cases, common changes in several genes likely combine with environmental and lifestyle factors to increase the risk of developing kidney stones.

Many of the genes that are associated with kidney stones help regulate the levels of minerals, such as calcium, and other substances in the body. Some of these genes play a role in transporting materials into and out of cells, while others are involved in cell communication. An imbalance of minerals and other substances in the urine can increase the likelihood that kidney stones will form.  

Environmental and lifestyle factors can also increase the risk of developing kidney stones. Too little water in the body (dehydration) is a common cause of kidney stones. When a person is dehydrated, the urine becomes more concentrated, which allows minerals and other substances to cluster together to form stones. Diets that are high in animal protein or sodium can also increase the likelihood of developing kidney stones. Medications that change the makeup of the urine can also increase the risk. These include certain medications that help remove salt and water from the body (diuretics) and certain drugs used to treat seizures.

Not all people who have a genetic or environmental risk factor will develop kidney stones. However, when someone with genetic risk factors also experiences one or more environmental or lifestyle risk factors, they may be more likely to develop kidney stones.

Common health conditions may also increase the risk of developing kidney stones. These include obesity, type 2 diabetes, inflammatory bowel disease, inflammation in the joints caused by high levels of uric acid in the blood (gout), and overactive parathyroid glands (hyperparathyroidism). 

Less commonly, a rare variant in a single gene can cause kidney stones. This is more likely for individuals with a family history of kidney stones, individuals with recurrent episodes of kidney stones, and individuals who develop kidney stones at a younger age. When kidney stones are caused by a variant in a single gene, they may be part of a syndrome that affects other parts of the body. Examples of genetic syndromes with kidney stones as a feature include Dent disease, cystinuria, primary hyperoxaluria, and Bartter syndrome.

Inheritance

When kidney stones are caused by a combination of genetic and environmental factors, they do not follow a clear pattern of inheritance. However, the risk of developing kidney stones is greater for individuals who have a family history of the condition.

Kidney stones that are caused by a rare variant in a single gene can be inherited in different ways, depending on the particular gene involved.

When kidney stones are part of a genetic syndrome, they follow the inheritance pattern of that syndrome.

Other Names for This Condition

  • Calculus of kidney
  • Calculus, kidney
  • Calculus, renal
  • Kidney calculi
  • Kidney stone
  • Nephrolith
  • Nephrolithiasis
  • Renal calculi
  • Renal calculus
  • Renal lithiasis
  • Renal stones
  • Urinary stones
  • Urolithiasis

Additional Information & Resources

Genetic Testing Information

  • Genetic Testing Registry: Nephrolithiasis/nephrocalcinosis From the National Institutes of Health

Patient Support and Advocacy Resources

  • National Organization for Rare Disorders (NORD)

Clinical Trials

  • ClinicalTrials.gov From the National Institutes of Health

Scientific Articles on PubMed

  • PubMed From the National Institutes of Health

References

  • Assimos D, Krambeck A, Miller NL, Monga M, Murad MH, Nelson CP, Pace KT, Pais VM Jr, Pearle MS, Preminger GM, Razvi H, Shah O, Matlaga BR. Surgical Management of Stones: American Urological Association/Endourological Society Guideline, PART I. J Urol. 2016 Oct;196(4):1153-60. doi: 10.1016/j.juro.2016.05.090. Epub 2016 May 27. Citation on PubMed
  • Assimos D, Krambeck A, Miller NL, Monga M, Murad MH, Nelson CP, Pace KT, Pais VM Jr, Pearle MS, Preminger GM, Razvi H, Shah O, Matlaga BR. Surgical Management of Stones: American Urological Association/Endourological Society Guideline, PART II. J Urol. 2016 Oct;196(4):1161-9. doi: 10.1016/j.juro.2016.05.091. Epub 2016 May 27. Citation on PubMed
  • Coe FL, Worcester EM, Evan AP. Idiopathic hypercalciuria and formation of calcium renal stones. Nat Rev Nephrol. 2016 Sep;12(9):519-33. doi: 10.1038/nrneph.2016.101. Epub 2016 Jul 25. Citation on PubMed or Free article on PubMed Central
  • Daga A, Majmundar AJ, Braun DA, Gee HY, Lawson JA, Shril S, Jobst-Schwan T, Vivante A, Schapiro D, Tan W, Warejko JK, Widmeier E, Nelson CP, Fathy HM, Gucev Z, Soliman NA, Hashmi S, Halbritter J, Halty M, Kari JA, El-Desoky S, Ferguson MA, Somers MJG, Traum AZ, Stein DR, Daouk GH, Rodig NM, Katz A, Hanna C, Schwaderer AL, Sayer JA, Wassner AJ, Mane S, Lifton RP, Milosevic D, Tasic V, Baum MA, Hildebrandt F. Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis. Kidney Int. 2018 Jan;93(1):204-213. doi: 10.1016/j.kint.2017.06.025. Epub 2017 Oct 12. Citation on PubMed
  • Dawson PA, Sim P, Mudge DW, Cowley D. Human SLC26A1 gene variants: a pilot study. ScientificWorldJournal. 2013 Oct 22;2013:541710. doi: 10.1155/2013/541710. eCollection 2013. Citation on PubMed or Free article on PubMed Central
  • Gee HY, Jun I, Braun DA, Lawson JA, Halbritter J, Shril S, Nelson CP, Tan W, Stein D, Wassner AJ, Ferguson MA, Gucev Z, Sayer JA, Milosevic D, Baum M, Tasic V, Lee MG, Hildebrandt F. Mutations in SLC26A1 Cause Nephrolithiasis. Am J Hum Genet. 2016 Jun 2;98(6):1228-1234. doi: 10.1016/j.ajhg.2016.03.026. Epub 2016 May 19. Citation on PubMed or Free article on PubMed Central
  • Howles SA, Thakker RV. Genetics of kidney stone disease. Nat Rev Urol. 2020 Jul;17(7):407-421. doi: 10.1038/s41585-020-0332-x. Epub 2020 Jun 12. Citation on PubMed
  • Leslie SW, Sajjad H. Hypercalciuria. 2024 Feb 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK448183/ Citation on PubMed
  • Maalouf NM. Nephrolithiasis. 2026 Feb 6. In: Feingold KR, Adler RA, Ahmed SF, Anawalt B, Blackman MR, Chrousos G, Corpas E, de Herder WW, Dhatariya K, Dungan K, Hamilton E, Hofland J, Jan de Beur S, Kalra S, Kaltsas G, Kapoor N, Kim M, Koch C, Kopp P, Korbonits M, Kovacs CS, Kuohung W, Laferrere B, Levy M, McGee EA, McLachlan R, Muzumdar R, Purnell J, Rey R, Sahay R, Shah AS, Sperling MA, Stratakis CA, Trence DL, Wilson DP, editors. Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000-. Available from http://www.ncbi.nlm.nih.gov/books/NBK279069/ Citation on PubMed
  • Pearle MS, Goldfarb DS, Assimos DG, Curhan G, Denu-Ciocca CJ, Matlaga BR, Monga M, Penniston KL, Preminger GM, Turk TM, White JR; American Urological Assocation. Medical management of kidney stones: AUA guideline. J Urol. 2014 Aug;192(2):316-24. doi: 10.1016/j.juro.2014.05.006. Epub 2014 May 20. Citation on PubMed
  • Qaseem A, Dallas P, Forciea MA, Starkey M, Denberg TD; Clinical Guidelines Committee of the American College of Physicians. Dietary and pharmacologic management to prevent recurrent nephrolithiasis in adults: a clinical practice guideline from the American College of Physicians. Ann Intern Med. 2014 Nov 4;161(9):659-67. doi: 10.7326/M13-2908. Citation on PubMed
  • Singh P, Harris PC, Sas DJ, Lieske JC. The genetics of kidney stone disease and nephrocalcinosis. Nat Rev Nephrol. 2022 Apr;18(4):224-240. doi: 10.1038/s41581-021-00513-4. Epub 2021 Dec 14. Citation on PubMed
  • Stamatelou K, Goldfarb DS. Epidemiology of Kidney Stones. Healthcare (Basel). 2023 Feb 2;11(3):424. doi: 10.3390/healthcare11030424. Citation on PubMed
  • Taguchi K, Yasui T, Milliner DS, Hoppe B, Chi T. Genetic Risk Factors for Idiopathic Urolithiasis: A Systematic Review of the Literature and Causal Network Analysis. Eur Urol Focus. 2017 Feb;3(1):72-81. doi: 10.1016/j.euf.2017.04.010. Epub 2017 May 19. Citation on PubMed
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Related Health Topics

  • Genetic Disorders
  • Kidney Stones

MEDICAL ENCYCLOPEDIA

  • Genetics
  • Kidney stones
  • Kidney stones - what to ask your doctor

Related Medical Tests

  • Crystals in Urine
  • Kidney Stone Analysis

Understanding Genetics

  • What is the prognosis of a genetic condition?
  • How can gene variants affect health and development?
  • What does it mean if a disorder seems to run in my family?
  • What are the different ways a genetic condition can be inherited?
  • How are genetic conditions treated or managed?

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