Cystinosis
A Rare Genetic Disorder Leading to Progressive Kidney Damage from Early Life
A hereditary condition where a substance called cystine accumulates inside cells, damaging multiple organs—especially the kidneys—leading to early kidney failure if not treated.
Child Showing Early Kidney or Growth Issues?
Get specialized evaluation for rare kidney disorders
How Cystinosis Affects the Body
Genetic Mutation
CTNS gene defectCystine Accumulation
In cells throughout bodyFanconi Syndrome
Kidney damageKidney Failure
Progressive declineImportant: Multi-Organ Disease
Kidney involvement is primary
Eyes, thyroid, pancreas affected
Lifelong monitoring required even after transplant
What is Cystinosis?
Cystinosis is a rare genetic disorder where cystine (an amino acid) accumulates inside cells due to a defect in its transport mechanism.
This buildup damages tissues, especially the kidneys, leading to a condition called Fanconi syndrome in early life and progressive kidney failure.
Other organs such as eyes, thyroid, pancreas, and muscles may also be affected over time.
Early Signs & Symptoms
Symptoms often appear in infancy:
Poor growth or failure to thrive
Excessive urination and thirst
Vomiting or feeding difficulties
Sensitivity to light (eye involvement)
Rickets or bone weakness
Causes & Risk Factors
Primary Cause
Genetic mutation affecting cystine transport (CTNS gene)
Risk Factors
- Family history
- Consanguineous marriages (in some populations)
Disease Progression
Early Stage (Infancy)
Fanconi syndrome
Growth issues
Early intervention critical
Childhood Stage
Progressive kidney damage
Eye and metabolic complications
Adolescent Stage
Declining kidney function
End Stage (Kidney Failure)
Dialysis or transplant required
Diagnosis & Tests
Blood and urine tests
Electrolyte imbalanceMeasurement of cystine levels
Genetic testing
Eye examination
Cystine crystals detectionCheck My Child's Condition
Understand severity and next steps
Treatment Options (Before Transplant)
1. Cysteamine Therapy
- Reduces cystine accumulation
2. Supportive Care
- Electrolyte replacement
- Nutritional support
3. Management of Complications
- Bone health
- Hormonal issues
4. Dialysis (Advanced Stage)
- Required if kidney failure develops
When is Kidney Transplant Needed?
Kidney transplant is often required when:
Kidney function declines significantly
Patient becomes dialysis-dependent
Medical management is no longer sufficient
Cystinosis Requires Long-Term Pediatric Care
Early intervention improves outcomes
Important: Does Transplant Cure Cystinosis?
It treats kidney failure but does not cure the underlying condition. Other organs still require monitoring even after transplant.
Dialysis vs Transplant
Dialysis
Temporary support • Limited growth impact
Transplant
Definitive kidney treatment • Improved growth • Better outcomes
Kidney Transplant Options
Living Donor Transplant
Preferred
Better outcomesCadaver Donor Transplant
Alternative option
Waiting listSwap Transplant
Useful in donor mismatch
Donor exchange systemGet My Treatment Plan
Cost & Planning
Costs depend on:
Hospital & pediatric expertise
Disease complexity
Long-term management needs
Download Guide
Pediatric Kidney Transplant Planning Guide
Free & confidentialGet Expert Help
Find Pediatric Kidney Specialists
Find SpecialistExplore Verified Hospitals
Patient Resources
Genetic counseling
Pediatric care guidelines
Pre-transplant workup
Frequently Asked Questions
Rare diseases need early recognition and specialized care.
Timely intervention can significantly improve outcomes. Start early. Plan ahead.