What Is Cystinuria? Causes, Symptoms Diagnosis Of Cystinuria

Genetic inheritance of characteristics is a concrete fact. Just like the color of your hair, your height, and your skin tone, some diseases can also be passed from parents to offspring. Cystinuria is one such disease in which both parents having this condition pass the necessary genetic information to their offspring that is responsible for the expression of Cystinuria in a person. To completely understand Cystinuria, it is necessary to have basic knowledge of the field of genetics. In this blog, we will see the underlying cause of Cystinuria, its symptoms, diagnosis, and treatment options.

What is Cystinuria?

Cystine kidney stones differentiate themselves from other kidney stones by being larger, harder, and more frequently occurring. Cystine kidney stones are generally to be surgically removed which again puts the patient at the risk of damaging the kidney

Formation of cystine stone

Cause of Cystinuria

Symptoms of Cystinuria

  • Flank pain
  • Hematuria
  • Abdominal pain
  • Nausea

The cause of Cystinuria being asymptomatic for 20 years is that the symptoms seen in this condition are associated with the formation of the kidney stones and not merely the presence of this condition

Diagnosis of Cystinuria

After the evaluation for establishing family medical history and links of other conditions with Cystinuria is established, the diagnosis is taken to the level of testing the patient with various methodologies such as:

  • Urinalysis: in this test method, a urine sample from the patient is examined in the lab for its color and composition. The sample is examined under a microscope and by involving the sample in chemical testing. For urinalysis, it is necessary to bring a sample that is not more than 24 hours old
  • Pyelogram: In this method, the movement of a dye, that is intravenously injected, is examined by X-Ray
  • CT scan: This method is used to picture the sharper images of the abdominal area to examine the changes caused by the kidney stones in the kidney or even to establish the presence of kidney stones

Treatment of Cystinuria

  • Taking the general precautions to avoid the formation of kidney stones which will mainly include restricting the intake of salt.
  • Taking the sources of alkalinizing agents as cystine becomes highly soluble at high PH levels.
  • Taking prescribed drugs such as tiopronin help in the prevention of crystallization of cystine
  • If the above-mentioned treatment options fail to help the condition of the patient suffering from Cystinuria to get better, then the patient must get surgically treated. Some of the surgical methods that can be used to treat extreme cases of Cystinuria are
  • Lithotripsy
  • Endoscopic basket extraction
  • Dissolving the kidney stones from laser techniques
  • Genetic therapy


At Alfa Kidney Care, we let our patients be diagnosed and treated only by experienced professionals. To know more about your kidney, contact us at +91 9484993617



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