Nephronophthisis 1 C1855681
A genetic kidney disorder causing scarring and cyst formation. Typically leads to kidney failure in adolescence. Treatment focuses on managing complications and preparing for possible kidney transplant.
Key facts at a glance
- ICD-10
- Q63.9
- ICD-11
- LA00.0
- Body system
- renal
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Polyuria
(renal)Polydipsia
(renal)Anemia
(hematologic)Hepatic fibrosis
(hepatic)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
Kidney replacement therapy
Dialysis becomes necessary as nephronophthisis progresses to end-stage renal disease, with hemodialysis or peritoneal dialysis serving as life-sustaining treatment to filter waste and remove excess fluids from the blood.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Kidney transplantation
Kidney transplant is the definitive treatment for end-stage renal disease caused by nephronophthisis, offering the best long-term survival and quality of life outcomes when a suitable donor is available.
Additional treatment options
Renal-friendly nutrition management
Specialized diet restricting sodium, potassium, and phosphorus intake while maintaining adequate protein helps manage symptoms, slow disease progression, and reduce complications associated with kidney dysfunction.
dietaryManagement of complications
Treatment with ACE inhibitors or ARBs for proteinuria, phosphate binders for hyperphosphatemia, and erythropoiesis-stimulating agents for anemia to address specific complications of chronic kidney disease.
medicationRegular nephrology follow-up
Frequent monitoring of kidney function through serum creatinine, BUN, eGFR, urinalysis for protein and sediment, and blood pressure measurements to track disease progression and adjust treatment.
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 Nephronophthisis 1 C1855681?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy