Cystinuria—What It Is and What You Need to Know

In an earlier post, I talked about the four types of kidney stones: calcium, uric, struvite, and cystine. After a bit more research, I realized that a certain condition, Cystinuria, causes Cystine stones—the rarest but often largest types of kidney stones. If you’ve experienced chronic kidney stones, if family members have chronic kidney stones, and if the stones have been made of Cystine, you may have this condition. Here’s what you need to know.

Cystinuria is a genetic disease (autosomal recessive) characterized by high concentrations of the Cysteine in the urine. Essentially, this condition is a cause of persistent, chronic kidney stones. If not treated properly, the disease can cause serious damage to the kidneys and the surrounding organs—in the worst cases, it can lead to death. In order to identify the stones as being made from Cysteine, they must undergo a nitroprusside cyanide test. The crystals formed in Cystinuria are often hexagonal, translucent, and white. The stones may turn pink or yellow once removed, but often become green after air exposure. Unless stones form, Cystinuria has no symptoms.

Once a stone is formed, however, symptoms may present. They include basic kidney stone symptoms as well as a few more intense manifestations.

 

  • Vomiting and/or extreme nausea
  • Dull ache
  • Hematuria
  • Chronic pain
  • Hydronephrosis
  • Pyelonephritis

 

Those with Cystinuria may experience chronic pain in one or both kidneys due to stone scars. The condition is caused by specific gene mutations, and the overall prevalence is around 1 in 7,000 people. Treatment includes adequate hydration, alkalization of the urine with supplements, and dietary modification.

So, if you have chronic kidney stones and know that your parents have also suffered from chronic kidney disease, getting tested may be in your best interest. It wouldn’t hurt to see, and it could end up saving your life. At the very least, it’ll safe your kidneys.

 

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