Nephrolithiasis, Calcium Oxalate (CAON)

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OMIM 57 167030 MedGen 42 C1833683 MeSH 44 D053040

KEGG 37 H02145 SNOMED-CT via HPO 69 258211005 95575002 14350001000004108 14669001 367621000119107 444717006 more UMLS 73 C0022650 C0392525 C1833683

PubMed Health : ⁶³ About kidney stones: Kidney stones are small, hard deposits that can form in a part of the kidney called the renal pelvis. Kidney stones that enter a ureter are sometimes referred to as ureteral stones. The ureters are the tubes that carry urine from the kidneys to the bladder.Many of these stones are so small that they are able to travel to the bladder in just a few days or weeks without any treatment, and then exit the body in your urine. So if the stones are smaller, it's often enough to take painkillers, drink plenty of fluids and simply wait for the kidney stones to pass through. Muscle-relaxing medications can be used to help pass medium-sized stones.Larger stones may get stuck as they exit the renal pelvis or take longer to move through the ureter, causing severe pain and other symptoms. Then they usually need to be broken up by sound waves or surgically removed. The most suitable treatment will depend on the size, the type and the position of the stones in the kidney or the urinary tract.It's common to have kidney stones multiple times. Finding the cause is a necessary part of preventing that from happening.

MalaCards based summary : Nephrolithiasis, Calcium Oxalate, also known as kidney stones, is related to hypercalciuria, absorptive, 2 and chronic kidney failure, and has symptoms including renal pain An important gene associated with Nephrolithiasis, Calcium Oxalate is SLC26A1 (Solute Carrier Family 26 Member 1), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and Glyoxylate and dicarboxylate metabolism. The drugs Citric Acid and Citrate have been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone, and related phenotypes are acute kidney injury and ureteropelvic junction obstruction

OMIM : ⁵⁷ Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%. (167030)

MedlinePlus : ⁴³ A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain. The following may be signs of kidney stones that need a doctor's help: Extreme pain in your back or side that will not go away Blood in your urine Fever and chills Vomiting Urine that smells bad or looks cloudy A burning feeling when you urinate Your doctor will diagnose a kidney stone with urine, blood, and imaging tests. If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery. NIH: National Institute of Diabetes and Digestive and Kidney Diseases

UniProtKB/Swiss-Prot : ⁷⁵ Nephrolithiasis, calcium oxalate: A form of nephrolithiasis, a condition in which urinary supersaturation leads to stone formation in the urinary system. Patients manifest acute renal colic with severe pain originating in the flank. Patients with small, non-obstructing stones or those with staghorn calculi may be asymptomatic. The majority of renal calculi contain calcium. CAON is characterized by calcium oxalate kidney stones.

Wikipedia : ⁷⁶ Kidney stone disease, also known as urolithiasis, is when a solid piece of material (kidney stone)... more...

Clinical features from OMIM:

167030

If you have smaller kidney stones that aren't painful, all you need to do is wait to pass them when you urinate. It's possible to tell by their size and location whether they can pass on their own. You can use painkillers such as diclofenac, ibuprofen or metamizole to relieve any pain. They can be combined with stronger drugs (opioids) for more severe pain.Certain muscle-relaxing medications (alpha blockers) can make it easier to pass kidney stones that are 5 to 10 millimeters in diameter. Larger kidney stones usually need to be removed. Depending on how large the kidney stones are and where they're located, sound waves can be used to destroy them or they can be removed using endoscopy or surgery.

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