Nephrolithiasis, Calcium Oxalate (CAON)

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Disease Ontology 11 DOID:0080652 OMIM® 57 167030 MeSH 43 D053040 ICD10 31 N20.0 N20.2 MedGen 40 C1833683

SNOMED-CT via HPO 69 14350001000004108 14669001 367621000119107 444717006 95575002 more EFO 16 EFO_0009065 ICD11 33 389168514 389168514/other 389168514/unspecified UMLS 71 C0022650 C0392525 C1833683

MedlinePlus Genetics: ⁴² Kidney stones (also called renal stones or urinary stones) are small, hard deposits that form in one or both kidneys; the stones are made up of minerals or other compounds found in urine. Kidney stones vary in size, shape, and color. To be cleared from the body (or "passed"), the stones need to travel through ducts that carry urine from the kidneys to the bladder (ureters) and be excreted. Depending on their size, kidney stones generally take days to weeks to pass out of the body.Kidney stones can cause abdominal or back pain (known as renal colic). Renal colic usually begins sporadically but then becomes constant and can lead to nausea and vomiting. The site of pain can change as the stone moves through the urinary tract. Some small stones pass through the kidney and urinary tract with little discomfort, while larger ones can block the flow of urine and impair kidney function. Kidney stones can also result in blood in the urine (hematuria) or kidney or urinary tract infections. Unusually large stones or stones that are difficult to pass can be medically removed.Although there are many types of kidney stones, four main types are classified by the material they are made of. Up to 75 percent of all kidney stones are composed primarily of calcium. Stones can also be made up of uric acid (a normal waste product), cystine (a protein building block), or struvite (a phosphate mineral). Stones form when there is more of the compound in the urine than can be dissolved. This imbalance can occur when there is an increased amount of the material in the urine, a reduced amount of liquid urine, or a combination of both.People are most likely to develop kidney stones between ages 40 and 60, though the stones can appear at any age. Research shows that 35 to 50 percent of people who have one kidney stone will develop additional stones, usually within 10 years of the first stone.

MalaCards based summary: Nephrolithiasis, Calcium Oxalate, also known as kidney stones, is related to nephrolithiasis/osteoporosis, hypophosphatemic, 1 and primary hyperoxaluria, 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 Metabolism and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. The drugs Nifedipine and Febuxostat have been mentioned in the context of this disorder. Affiliated tissues include Kidney, bone and spinal cord, and related phenotypes are ureteropelvic junction obstruction and acute kidney injury

PubMed Health : ⁶³ 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.

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) (Updated 08-Dec-2022)

MedlinePlus: ⁴¹ 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: ⁷³ 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.

Disease Ontology: ¹¹ A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has material basis in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.

Wikipedia: ⁷⁵ Kidney stone disease, also known as nephrolithiasis or urolithiasis, is a crystallopathy where a solid... more...

Clinical features from OMIM®:

167030 (Updated 08-Dec-2022)

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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