Overview
Juvenile nephropathic cystinosis is a rare inherited metabolic disease that causes the amino acid cystine to build up inside cells throughout the body. It is caused by a problem in the CTNS gene, which normally helps transport cystine out of a cell compartment called the lysosome. When this transport system does not work properly, cystine crystals accumulate in many organs, especially the kidneys and eyes, but also the thyroid, muscles, brain, and other tissues. This form of cystinosis is called 'juvenile' because symptoms typically appear later than the more common infantile form — usually between late childhood and adolescence. Children with juvenile nephropathic cystinosis tend to have milder kidney disease that progresses more slowly than in the infantile form. Common symptoms include excessive thirst and urination, poor growth, kidney problems that can eventually lead to kidney failure, and the buildup of cystine crystals in the eyes, which can cause light sensitivity and discomfort. The main treatment is a medication called cysteamine, which helps lower cystine levels inside cells and can slow organ damage. Cysteamine eye drops are also used to dissolve corneal crystals. Even with treatment, many patients eventually need kidney transplantation. Early diagnosis and consistent treatment are very important for preserving kidney function and overall health as long as possible. Other names for this condition include intermediate cystinosis or adolescent nephropathic cystinosis.
Also known as:
Key symptoms:
Excessive thirst and frequent urinationSlow growth or short statureKidney problems that worsen over timeCrystals in the eyes causing light sensitivityEye pain or tearingFatigue and low energyMuscle weakness or wastingDifficulty swallowing in later stagesThyroid problems (underactive thyroid)Bone pain or rickets-like bone changesDiabetes in later stagesHeadachesPoor appetite
Clinical phenotype terms (39)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Juvenile
Begins in the teen years
Treatments
No FDA-approved treatments are currently listed for Juvenile nephropathic cystinosis.
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Specialists
View all specialists →No specialists are currently listed for Juvenile nephropathic cystinosis.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Juvenile nephropathic cystinosis.
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
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Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.How severe is my child's kidney involvement right now, and how quickly might it progress?,What is the best cysteamine formulation for my child, and how do we manage the dosing schedule?,How often should my child's white blood cell cystine levels be checked to make sure treatment is working?,What other organs should we be monitoring, and how often do we need specialist appointments?,Are there any clinical trials or new treatments available for cystinosis?,When should we start planning for the possibility of kidney transplantation?,What support is available to help my child manage the social and emotional impact of this disease?
Common questions about Juvenile nephropathic cystinosis
What is Juvenile nephropathic cystinosis?
Juvenile nephropathic cystinosis is a rare inherited metabolic disease that causes the amino acid cystine to build up inside cells throughout the body. It is caused by a problem in the CTNS gene, which normally helps transport cystine out of a cell compartment called the lysosome. When this transport system does not work properly, cystine crystals accumulate in many organs, especially the kidneys and eyes, but also the thyroid, muscles, brain, and other tissues. This form of cystinosis is called 'juvenile' because symptoms typically appear later than the more common infantile form — usually b
How is Juvenile nephropathic cystinosis inherited?
Juvenile nephropathic cystinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Juvenile nephropathic cystinosis typically begin?
Typical onset of Juvenile nephropathic cystinosis is juvenile. Age of onset can vary across affected individuals.