Living with Cystinosis
A genetic condition where cystine builds up in cells, mainly harming the kidneys and eyes.
Understanding Cystinosis
The kidneys and eyes are especially affected. Muscles, thyroid, pancreas, and testes may be affected too. There are three types: nephropathic, intermediate, and ocular (non-nephropathic). The nephropathic type starts in infancy with poor growth and kidney problems.
Signs & symptoms
Symptoms vary by type and by person. GARD lists these among the most common:
- Kidney tubes that do not work properly
- Extreme sensitivity to light (photophobia)
- Extreme thirst and dehydration
- Poor growth and weight gain
- Muscle weakness
- Delayed puberty
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, genetic specialists, hormone specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Cystinosis Research Network may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: Cystinosis Research Network
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Cystinosis Research Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: cystine diathesis; cystine disease; cystine storage disease; cystinoses; protein defect of cystin transport
Patient organizations
- Cystinosis Research FoundationCystinosis · United States
- Cystinosis Research NetworkCystinosis · United States
- HealthTree FoundationCystinosis · United States
- Next Generation of CystinosisCystinosis · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Cystinosis.
Explore research for Cystinosis
Explore actively recruiting Cystinosis studies with HealthSpark.
Find actively recruiting studies for Cystinosis with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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