Urolithiasis

Urolithiasis is the accumulation of calculi or "stones" in the urinary tract (kidneys, ureters and bladder) formed by the crystallization of minerals or acid salts. It may cause pain, obstruction, hemorrhage or infection. It is a common condition, affecting up to 1 in 10 people.

Kidney stones usually occur in concentrated urine or due to an excess of substances that may promote their appearance, such as calcium, oxalate or uric acid, but predisposing factors may be multiple. These include:

  • It is more frequent in men than in women.
  • Family or personal history. Having a family member affected or having had a previous episode may increase the risk.
  • Low water consumption. Not drinking enough water or living in hot, dry climates that increase sweating can lead to more concentrated urine and increased risk.
  • Consumption of foods high in protein, salt and sugar.
  • Obesity
  • Digestive diseases, such as inflammatory bowel disease or chronic diarrhea, can affect water absorption, increasing the risk.
  • Consumption of certain supplements and medications, such as vitamin C, laxatives or certain medications used to treat depression and migraine.

Symptoms

Most commonly, the presence of kidney stones is associated with colicky pain that appears when the stone obstructs the normal flow of urine. It is a sharp pain that is localized in the lumbar area but can irrigate the groin and even, in the case of males, affect the testicle on the same side. Other signs and symptoms that may appear are the presence of blood in the urine.

Sometimes the pain is mild or even painless depending on the type, size, shape and location.

Prevention

The presence of stones in the urinary tract is one of the most frequent urological pathologies. Prevention involves avoiding risk factors, with recommendations such as the following:

  • Drink plenty of water throughout the day and reduce salt consumption.
  • Moderate consumption of animal proteins.
  • Avoid foods rich in oxalate, especially for people who have a tendency to accumulate this compound. These foods include coffee, cocoa, spinach, strawberries, tea, nuts or wheat, among others.
  • Taking medications that may be useful for those with a tendency to develop stones, which may vary depending on their composition so it is important to consult a doctor.

Number of observed variants

13.5 million variants

Number of risk loci

30 loci

Genes analyzed

ABCG2 AKAP11 ALPL AQP1 BCAS1 CASR CHAF1B DGKD DZIP1 EPB41L2 GCKR GNAZ HCRTR2 HIBADH KCNK5 MIPOL1 MYOCD NUTM2A PDILT PTGER1 SHROOM3 SLC22A2 SLC30A10 SLC34A1 SOX9 TBX2 TFAP2B UGT8 WDR72 ZFP36L2 ZFPM1

Bibliography

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