Cystinosis is a rare inherited disorder which is estimated to affect 1 in 100,000 to 200,000 people. Cystinosis is characterised by the accumulation of an amino acid called cystine within the lysosomes of the body. Lysosomes are a compartment within the cell that digest and recycle materials such as proteins.

Cystine is an amino acid which is a building block of protein and is essential to life. Protein is broken down inside the lysosomes into several amino acids (including Cystine). In a patient without cystinosis cystine is allowed to leave the lysosome to be used again by the body. In patients living with cystinosis there is no transport system available to carry cystine out of the lysosomes therefore causing cystine to accumulate within the cell.

The accumulating cystine will eventually form into crystals within your cells and start to affect various organs such as the kidneys, eyes, muscle, pancreas and the brain.

Information about the service

The Cystinosis clinic at the Queen Elizabeth Hospital is dedicated specifically to patients with cystinosis. The clinic has a long history of looking after patients with cystinosis. The clinic is run by staff experienced in managing patients with Cystinosis. 

The kidneys and the eyes are often the first organs to be effected by cystinosis. However cystinosis can potentially lead to other organs becoming affected going into adulthood. The clinic offers an annual review service in which patients have the following investigations on the morning of their clinic appointment to monitor the effect cystinosis is having on other organs in the body:

• Lung Function Tests
• Ultrasound Scan of the abdomen
• Echocardiogram (heart scan)
• Speech and Language appointment

How to contact the service

Emily Cooper – Renal Metabolic Clinical Nurse Specialist

Tel: 0121 371 8707
Email: Emily.Cooper@uhb.nhs.uk