Cystinuria

Table of contents:

  1. What is cystinuria?
  2. What is the prognosis of cystinuria?
  3. What are the symptoms?
  4. How can it be detected?
  5. What are the causes?
  6. Can it be prevented?
  7. Treatments for cystinuria

What is cystinuria?

Cystinuria is a disease that generates a chronic production of an amino acid called cystine stones.

The accumulation of this amino acid leads to the formation of solid crystals that can grow to form stones in the urinary tract: in the kidney, bladder and ureter.

What is the prognosis of cystinuria?

Cystinuria is a chronic disease, so stones appear frequently. However, it does not affect other organs and kidney failure is not common.

What are the symptoms?

The most frequent symptoms of this disease are pain in the side or back, pelvis, groin, genitals or between the upper abdomen and back.

Other less frequent symptoms are nausea, vomiting, tiredness and/or depression.

Cystinuria is an aminoaciduria due to defective cystine transport.
due to defective cystine transport.

How can it be detected?

The most common way to detect cystinuria is a laboratory study. If kidney stones formed by cystine are found, the disease is diagnosed.

What are the causes?

Cystinuria is hereditary. The defective gene must be inherited from both parents. The formation of crystals and small stones are excreted in the urine as grit or very small stones. However, if the stones are larger, they can block the passage of urine and cause an infection.

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Can it be prevented?

This disease can be prevented. Several factors must be taken into account, more so if you are genetically destined to suffer from it. It is recommended:

  • Drink 3 to 4 liters of water a day.
  • Maintain a diet reduced in salt and proteins.
  • Maintain a diet rich in vegetables and medications to make the urine pH more soluble.

Treatments for cystinuria

Cystinuria can be treated with analgesics and anti-inflammatory drugs for cases of renal colic. If it is a more severe case, surgery, extracorporeal shock wave lithotripsy, nephrolithotomy or ureterostomy may be appropriate.

A specialist in Nephrology or Urology should be consulted to find out what type of cystinuria is involved and how it can be properly treated.