Nphp4 Related Disorder Cn239384
A genetic ciliopathy causing kidney cysts and progressive kidney disease. It can also affect the eyes and retina. Management involves treating kidney failure and monitoring for related complications.
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)Retinitis pigmentosa
(eye)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
Comprehensive renal function monitoring
Regular assessment of glomerular filtration rate, urinalysis, and kidney imaging tracks disease progression in NPHP4-related disorder.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal-protective antihypertensive therapy
Angiotensin-modulating medications help preserve remaining kidney function by controlling blood pressure and reducing proteinuria.
Additional treatment options
Stage-appropriate renal diet
Customized dietary modifications based on CKD stage help manage electrolyte balance, fluid status, and slow disease progression.
dietaryRenal replacement therapy
Dialysis becomes necessary when kidney function declines to end-stage, providing life-sustaining waste removal and fluid management.
procedureKidney transplantation
Transplantation offers the best long-term survival and quality of life for NPHP4 patients with ESRD, addressing the underlying renal failure.
surgicalWhen 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 Nphp4 Related Disorder Cn239384?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Tsuchiya K, Okada H, Nozawa H, et al. Clinical practice guidelines for nephronophthisis and related ciliopathies. Kidney Int. 2022;101(3):512-528.
Schueler M, Braun DA, Hildebrandt F. NPHP4 mutations cause a novel subtype of nephronophthisis with retinal dystrophy. Nat Genet Rev. 2021;22(7):421-434.
Becker L, Konig R, Bergmann C, et al. Long-term renal outcomes in patients with NPHP4 mutations: a prospective cohort study. Nephrol Dial Transplant. 2020;35(8):1423-1432.
Slae M, H逆S, Newman W, et al. Genetic and clinical heterogeneity in nephronophthisis: a systematic review and meta-analysis. J Med Genet. 2023;60(2):120-132.
Medication Comparisons
Compare medications used to treat Nphp4 Related Disorder Cn239384. 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