Overview
Infantile nephropathic cystinosis is a rare inherited metabolic disease that causes the amino acid cystine to build up inside cells throughout the body. It is the most severe form of cystinosis and typically appears in the first year of life. The disease is caused by a problem with a protein called cystinosin, which normally moves cystine out of a cell compartment called the lysosome. When this protein does not work properly, cystine crystals form inside cells and damage organs over time. The kidneys are usually the first organs affected. Babies with this condition develop a kidney problem called renal Fanconi syndrome, where the kidneys lose important nutrients like salts, minerals, amino acids, and glucose into the urine. This leads to excessive thirst, frequent urination, poor growth, rickets (soft bones), and failure to thrive. Without treatment, kidney function gradually declines, and children may need dialysis or a kidney transplant, often by around age 10. Over time, cystine crystals can also damage the eyes, thyroid gland, muscles, brain, pancreas, and other organs. Cystine crystals in the cornea of the eye can cause light sensitivity and pain. The main treatment is a medication called cysteamine, which helps remove cystine from cells and can significantly slow organ damage when started early and taken consistently. Cysteamine eye drops are also used to dissolve corneal crystals. With early diagnosis and lifelong treatment, outcomes have improved greatly, though the disease still requires intensive medical management.
Key symptoms:
Excessive thirst and drinking large amounts of waterFrequent and excessive urinationPoor growth and failure to thriveRickets (soft, weak bones)Muscle weaknessSensitivity to light (photophobia)Cystine crystals visible in the eyesVomiting and poor appetiteConstipationDelayed walking and motor milestonesProgressive kidney failureThyroid problems (hypothyroidism)Diabetes from pancreas damageDifficulty swallowing in later stagesBlonde hair and fair skin compared to family members
Clinical phenotype terms (27)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Infantile nephropathic cystinosis.
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Specialists
View all specialists →No specialists are currently listed for Infantile 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 Infantile nephropathic cystinosis.
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Caregiver Resources
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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.What is my child's current kidney function, and how quickly is it changing?,What is the target white blood cell cystine level, and are we reaching it with the current dose?,Should we use the immediate-release or delayed-release form of cysteamine, and what are the pros and cons of each?,What other organs should be monitored, and how often do we need screening tests?,Are there clinical trials or new treatments available that my child might benefit from?,What should I do if my child vomits a dose of cysteamine or refuses to take it?,When should we start planning for a possible kidney transplant, and what does that process look like?
Common questions about Infantile nephropathic cystinosis
What is Infantile nephropathic cystinosis?
Infantile nephropathic cystinosis is a rare inherited metabolic disease that causes the amino acid cystine to build up inside cells throughout the body. It is the most severe form of cystinosis and typically appears in the first year of life. The disease is caused by a problem with a protein called cystinosin, which normally moves cystine out of a cell compartment called the lysosome. When this protein does not work properly, cystine crystals form inside cells and damage organs over time. The kidneys are usually the first organs affected. Babies with this condition develop a kidney problem ca
How is Infantile nephropathic cystinosis inherited?
Infantile nephropathic cystinosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Infantile nephropathic cystinosis typically begin?
Typical onset of Infantile nephropathic cystinosis is infantile. Age of onset can vary across affected individuals.