Cystinosis: What You Need to Know

Cystinosis: What You Need to Know

Cystinosis is a rare, genetic disorder that causes an amino acid called cystine to build up in the cells of the body. Cystine is a component of protein, and too much cystine can damage organs and tissues. Cystinosis most often affects the kidneys and eyes, but it can also damage other organs, such as the brain, liver, muscles, and pancreas.

Symptoms of cystinosis

The symptoms of cystinosis vary depending on the severity of the disease and the organs that are affected. Some people with cystinosis have no symptoms, while others may experience symptoms such as:

  • Frequent urination
  • Increased thirst
  • Fatigue
  • Poor growth
  • Blood in the urine
  • Cloudy urine
  • Sensitivity to light
  • Eye pain
  • Muscle weakness
  • Seizures

Diagnosis of cystinosis

Cystinosis is diagnosed based on a combination of medical history, physical exam, blood tests, and urine tests. A kidney biopsy may also be recommended to confirm the diagnosis and assess the severity of the disease.

Treatment of cystinosis

There is no cure for cystinosis, but there are treatments that can help to slow the progression of the disease and manage the symptoms. Treatment options include:

  • Cysteamine: Cysteamine is a medication that helps to remove cystine from the cells. It is taken orally or through a feeding tube.
  • Kidney transplant: If cystinosis causes kidney failure, a kidney transplant may be necessary.
  • Other treatments: Other treatments may be used to manage the symptoms of cystinosis, such as blood pressure medications, cholesterol medications, and antihypertensive medications.

Prognosis for cystinosis

The prognosis for people with cystinosis varies depending on the severity of the disease and the organs that are affected. With early diagnosis and treatment, many people with cystinosis can live long and productive lives. However, some people with cystinosis may progress to end-stage renal disease (ESRD), which means that their kidneys stop working properly. If this happens, dialysis or a kidney transplant may be necessary.

What can you do to manage cystinosis?

If you or someone you know has cystinosis, there are a number of things you can do to help manage the condition and improve the prognosis:

  • Take all medications as prescribed by your doctor.
  • Follow a healthy diet.
  • Maintain a healthy weight.
  • Control your blood pressure.
  • Control your cholesterol.
  • Avoid smoking and excessive alcohol consumption.
  • Get regular exercise.
  • Follow up with your doctor regularly for monitoring and treatment.

You are not alone

Cystinosis is a rare disease, but there is a supportive community of people living with cystinosis and their families. There are also a number of organizations that provide resources and support for people with cystinosis and their loved ones.

If you have any questions or concerns about cystinosis, be sure to talk to your doctor.

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