Juvenile Nephropathic Cystinosis C0268626
A genetic disorder causing cystine crystals to accumulate in cells, damaging kidneys and other organs in children. Treatment involves medication and supportive care.
Key facts at a glance
- ICD-10
- E88.9
- ICD-11
- 5A00.0
- Body system
- metabolic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Fatigue or weight changes
(metabolic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Renal tubular dysfunction
(metabolic)Growth failure
(metabolic)Photophobia
(metabolic)Hypothyroidism
(metabolic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Cystine-depleting therapy with cysteamine
Cysteamine bitartrate or cysteamine hydrochloride therapy is the cornerstone disease-specific treatment that depletes intracellular cystine accumulation in cells. Early and consistent initiation is critical to preserve organ function and improve long-term outcomes in nephropathic cystinosis.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal replacement and electrolyte management
Supportive pharmacological management addressing Fanconi syndrome manifestations including replacement of electrolytes, minerals, and nutrients lost through renal tubular dysfunction. Includes phosphate, potassium, bicarbonate, and water supplementation as needed.
Additional treatment options
Specialized nutritional support and diet modification
Nutritional management tailored to address growth requirements, compensate for renal and Fanconi-related losses, and accommodate any feeding difficulties. May include high-calorie supplementation, modified protein intake, and electrolyte-specific dietary adjustments.
dietaryRenal transplantation when indicated
Kidney transplantation becomes necessary when end-stage renal disease develops, providing definitive replacement of failed kidney function. Pre-emptive transplantation is often considered to avoid dialysis complications in eligible patients.
procedureMultisystem monitoring for extra-renal complications
Systematic surveillance for complications affecting eyes (photophobia, corneal cystine crystals), thyroid, pancreas, brain, and muscle. Regular ophthalmologic exams, endocrine testing, and neurodevelopmental assessments catch complications early.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Juvenile Nephropathic Cystinosis C0268626?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Juvenile Nephropathic Cystinosis C0268626. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy