A comprehensive guide to cystinuria

cystinuria is a hereditary disease that causes stones. These stones are made up of cysteine. This forms in the kidneys, bladder and ureters. To develop cystinuria, the patient must have acquired a genetic defect from both parents. The defect in the gene causes cystine to build up in the kidneys. The main functions of the kidneys are as follows:

  • Reabsorption of essential minerals and proteins back into the body.
  • Filtering the blood to remove toxic waste.
  • Producing urine to excrete waste products from the body.

The amino acid cysteine ​​forms stones in the kidneys instead of flowing back into the bloodstream. Many treatments can help prevent these diseases. People often wonder what is cystine in that case, they should know that it can be serious if not treated in time. In this article, we will study cystinuria, its causes and treatment methods that can help patients avoid this disease.

Symptoms of cystinuria

Cystinuria is a lifelong condition that first appears in young adults. The cystine crystals can come back many times. Some of the main symptoms of cystinuria are:

  • blood in the urine
  • Abnormal pain inside and in the back
  • nausea
  • Pain near the pelvis and abdomen

What Causes Cystinuria?

Defects in the genes cause cystinuria. These defects are also called mutations. In the case of cystinuria, the genes instruct the body to make transport proteins found in the kidneys, and this particular protein controls the reabsorption of amino acids. Cystine crystals in the urine cause patients a great deal of pain.

Amino acids are created during the breakdown of proteins. They are used to perform various bodily functions. They are important to the body and are not considered waste. So when these amino acids enter the kidneys, they are reabsorbed back into the bloodstream. People suffering from cystinuria have mutations that interfere with the ability of the transport proteins to reabsorb amino acids. patients who have cystine in the urine have to take care of themselves.

One of the amino acids, cystine, is not very soluble in urine. If these are not reabsorbed, they can build up in the kidney and form crystals or cystine stones. These hard stones get stuck in the kidneys, bladder and ureters. It can cause excruciating pain.

Risks for cystinuria

A person can only get cystinuria if parents have specific genes that cause these diseases, and heredity also causes cystinuria. This specific type of disease affects about 1 in 10,000 people worldwide. cystine stones can be very dangerous to health if not treated correctly.

Diagnosis of cystinuria

A person will only go for a diagnosis of cystinuria if they experience an episode of kidney stones. They undergo an examination that is performed to check whether the stones are made of cystine or not. Genetic testing is rarely done. There are several methods by which cystinuria can be diagnosed. Additional diagnostic tests for cystinuria include the following:

1.24 hours of urine collection

The patient is asked to collect their urine in a container throughout the day. The urine is then sent to the laboratory for analysis. This analysis determines the composition of the stones and other factors.

2. Abdominal CT scan

An abdominal CT scan is a type of diagnostic test for cystinuria that uses X-rays to create images of the structures in the abdomen. They look for stones that are present in the kidney.

3. Urinalysis

Urinalysis is the laboratory urinalysis, which looks at the color and physical description of the urine. The entire urinalysis procedure is done by looking at the urine under a microscope and doing a chemical test to detect certain substances such as cystine.

Complications of cystinuria

Cystinuria can be extremely painful and can lead to serious complications if not treated properly. Some serious complications of several types of cystinuria include the following:

  • Kidney or bladder damage from a stone.
  • Urinary tract infections
  • Kidney infections
  • Ureteral obstruction (It is a blockage in the ureter, the tube that carries urine from the kidneys to the bladder.

Medication and surgery of cystinuria

Any illness, acute or chronic, requires the right medication. In the case of cystinuria, medications commonly known as chelating agents help dissolve cystine crystals.

In cystinuria, D-penicillamine and alpha-mercaptopropionylglycine are the most common drugs. D-penicillamine is the most effective drug for treating such disease. The doctor may also prescribe pain medication to control pain when the stone passes through the bladder or when the patient experiences symptoms of cystinuria.

If the doctor sees that the stones are very large and painful, he may have to remove them surgically under any circumstances. Surgical procedures such as extracorporeal shock wave lithotripsy, percutaneous nephrolithotomy, ureteroscopy and laser lithotripsy are commonly used to cure cystinuria.

It comes down to

Cystinuria is a disease that cannot be prevented if both parents carry genetic abnormalities., The stones of cystinuria are found in young adults under 40 years of age. However, drinking enough water and reducing salt intake can help prevent stone formation.

Dr Saurabh Bhargava | Senior Consultant – Robotic Surgery, Urology | Mazumdar Shaw Medical Center, Bommasandra, Bangalore

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