Below you will find more information about Cystinosis from Medigest. If you believe that you are suffering from any of the symptoms of Cystinosis it is important that you obtain an accurate diagnosis from a medical professional to ensure that you obtain the correct medication or treatment for your condition. There are medical conditions that carry similar symptoms associated with Cystinosis and therefore the information provided by Medigest is offered as a guideline only and should never be used in preference to seeking professional medical advice. The information relating to Cystinosis comes from a third party source and Medigest will not be held liable for any inaccuracies relating to the information shown.


Cystinosis is categorized as an inherited disorder that affects chromosome 17, under which the amino acid cystine is not properly transported out of the patient's body cells. This would cause organ and tissue all damage throughout the body and may begin to manifest at any age, affecting both male and female. This mutated gene CTNS is an autosomal recessive, which means both parents are carrier of this gene resulting to the child to inherit to defective gene copies.


Diagnosis of cystinosis is typically confirmed by cystine level measurement in blood cells. Other blood tests are conducted to check for the imbalances in sodium and potassium, as well as the level of cystine in the urine. Kidney sample and eye examinations are also performed.


The drug cysteamine (Cystagon) effectively helps eliminate the presence of cystine from the patient's body. While this drug may not be able to reverse the damage already done, it can prevent or slow down further damage from occurring. Cysteamine is considered as a highly beneficial to patient's cystinosis, especially when medication is started early in life. To cure impaired kinder function, mineral supplements are usually required such as potassium, phosphate, sodium and vitamin D.

Symptoms and Signs

Symptoms for Cystinosis would normally depend on the severity of the disease that would typically include photophobia, loss of appetite, changes in the retina, short stature, as well as impaired kidneys.


Cystinosis is caused by the inheritance of an autosomal recessive genes, with both parent act as carrier of the defective genes.

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