What is Cystinosis?
Cystinosis is a rare genetic condition. It is caused by a mutation in the CTNS gene that controls the removal of cystine from cells in the body. Cystine is an amino acid that is used to build proteins in the body, but when it can’t be removed from cells, it begins to build up and form crystals. These crystals cause damage to organs and tissue. The kidneys and the eyes are most commonly affected, but cystinosis can affect anywhere in the body. There are three types of cystinosis: infantile, juvenile and ocular (only affecting the eyes). Infantile usually begins within the first year of life. Juvenile begins around the ages 10-12. Ocular can occur at any time. The most common complication of cystinosis is kidney disease. Cystinosis is an autosomal recessive condition, this means both parents must have a copy of the gene that causes cystinosis, and both pass this on for a child to inherit it. If one child is diagnosed with cystinosis, prenatal/genetic screening may be offered to close relatives.
Most patients will be diagnosed in early childhood. Parents/carers may first notice symptoms of failure to thrive, vomiting or trouble with feeding, children being thirsty or urinating lots (Fanconi syndrome). Eye involvement can present as pain or discomfort when looking at bright lights.
What does the service involve?
In Manchester there is an adult and paediatric HSS for cystinosis. This is one of only four hospital trusts in the UK providing specialist cystinosis care. The service can diagnose new cases, initiate treatment on cysteamine, provide regular check-ups, and coordinate other specialty involvement.
Patients will be treated by a multidisciplinary team. This will include nephrology, ophthalmology, neurology, clinical genetics, a fertility specialist, endocrinology, dieticians, a psychologist, a pharmacist, a named specialist nurse and a named consultant doctor.
The MDT will work together to create a treatment plan and investigate new symptoms or complications if they arise. Cysteamine is an important treatment in controlling cystinosis as it helps the body to remove cystine which prevents the disease from getting worse. The service or specialist kidney doctor may recommend starting renal replacement therapy (dialysis or kidney transplants) if kidney function worsens. Wherever possible treatments like dialysis will be carried out locally to the patient to avoid unnecessary travel.
Links
- Royal Manchester Children’s – information for patients, named members of the team and contact details
- Cystinosis Foundation UK – a charity offering support to people affected by cystinosis. They regularly provide updates on new developments in cystinosis care.
Credits:
Amy Abebrese – University of Manchester medical student