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Overview of Cystinosis

Cystinosis is a rare condition that occurs by the build-up of an amino acid cystine in the body. This accumulation can occur in different tissues and affect multiple organs. The most commonly affected organs by the disease include the kidneys and eyes. 

The condition is a recessive genetic disorder which means that the sufferer may need to get the defective gene copies from both of the parents. The condition changes the way your body stores cysteine which results in the formation of cystine crystals that can accumulate anywhere in your body.

Signs and Symptoms of Cystinosis

Some of the common signs and symptoms of cystinosis include;

  • Growth challenges
  • Urination troubles
  • Thirst
  • Vomiting
  • Photophobia/ light sensitivity
  • Soft bones
  • Poor nutrients absorption through kidneys (Fanconi syndrome)
  • Kidney failure
  • Soft bones as in rickets

Disease symptoms can appear earlier in life and get complicated later. In adults, it usually begins as photophobia.

Types of Cystinosis

There are three types of cystinosis, depending on when symptoms first appear (known as onset). Common types include:

  • Infantile (early-onset) cystinosis
  • Later childhood or adolescent (late-onset) cystinosis 
  • Adult cystinosis 

Causes of Cystinosis

The condition is genetic and runs through the families. Cytonisis being a recessive disorder occurs when both parents carry faulty genes for cystine storage. Once inherited, it alters the way your body stores cysteine protein and can impact multiple organs in your body. 


Risk Factors of Cystinosis





Cystinosis diagnosis is possible through the following disease;

Physical Examination - Your doctor can use a physical exam to check the accumulation of cystine crystals, especially in your eyes. So, an eye exam is important.

Blood and Urine Testing - Increased levels of cysteine can be detected in blood and urine samples (urine complete examination) that can further confirm the occurrence of the disease. 

Genetic Testing - Genetic testing methods are applicable to confirm the presence of the faulty gene in its recessive form.

Treatment of Cystinosis | When to Consult a Doctor

Medications - Certain medications can help to lower the level of cysteine in the body. 

Fluids and Electrolytes - When it comes to the treatment of cystinosis, the condition is managed with fluid and electrolytes given to patients during their growing stages.

Kidney Transplant - Kidney transplant also comes as a favorable treatment option in case of complete kidney failure.