Kidney stones are a common ailment that often leaves sufferers feeling guilty and perplexed, questioning their lifestyle choices. However, the development of kidney stones is not necessarily an issue with the individual’s habits, as genetic factors can also play a significant role.
Specifically, the following hereditary diseases are closely related to the formation of kidney stones:
1. Autosomal recessive disorders
This includes primary hyperoxaluria and cystinuria.
Primary hyperoxaluria is a genetic disorder affecting the metabolism of oxalates, leading to excessive production of oxalates in the body, which are then excreted through the kidneys. This disease is caused by defects in certain genes.
Under normal circumstances, the body processes oxalates to maintain appropriate levels. However, individuals with primary hyperoxaluria have genetic defects that disrupt this process, leading to overproduction of oxalates.
Excessive oxalates accumulate in the urine, resulting in hyperoxaluria. This condition increases the risk of calcium oxalate stones in the urinary system and can lead to progressive worsening of calcium deposits in the kidneys.
Cystinuria is another genetic disorder that causes the renal tubules to be unable to effectively reabsorb cystine, an amino acid with low solubility in urine. Therefore, if the reabsorption of cystine in the renal tubules is limited, cystine will be excessively excreted into the urine. Over time, large amounts of cystine gradually accumulate in the urine, forming cystine stones.
2. Autosomal dominant disorders
Distal renal tubular acidosis is a kidney disorder that affects the kidney’s ability to excrete excess acidic substances. When too many acidic substances accumulate in our bodies, leading to acidosis, the renal tubules increase the reabsorption of certain substances (such as citrate) to balance the acid-base levels, resulting in reduced citrate content in the urine. In this case, the urine becomes alkaline, causing calcium salts to deposit in the kidneys, leading to medullary nephrocalcinosis or stones.
3. Others
Hyperuricemia and gout both have familial tendencies. Hyperuricemia refers to abnormally high levels of uric acid in the body. When uric acid levels in the body are too high, it can lead to the formation of uric acid stones and may also cause other types of stones.
In conclusion, sometimes developing kidney stones is not solely an issue with your personal habits; genetic factors may also play an important role. These hereditary diseases directly or indirectly affect the body’s metabolism, excretion, and acid-base balance, increasing the risk of kidney stone formation. Therefore, understanding one’s family history and the impact of related genetic disorders on the formation of kidney stones is crucial for the prevention and treatment of this condition.