Adult Familial Nephronophthisis Spastic Quadriparesia Syndrome C4518090
A rare genetic disorder causing kidney cysts and movement problems. Runs in families. No cure exists; treatment focuses on managing symptoms and 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
Chronic kidney disease
(renal)Polyuria and polydipsia
(renal)Anemia
(renal)Spastic quadriparesis
(renal)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
Dialysis
Renal replacement therapy to filter waste and remove excess fluids from blood when kidney function declines significantly. May involve hemodialysis or peritoneal dialysis depending on patient circumstances.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Kidney Transplantation
Surgical replacement of failing kidneys with a healthy donor kidney to restore renal function and improve outcomes. Requires careful donor matching and lifelong immunosuppression.
Additional treatment options
ACE Inhibitors or ARBs
Blood pressure and proteinuria management to slow kidney disease progression and reduce cardiovascular risk. These agents provide renoprotective benefits beyond blood pressure control.
medicationSpasticity Management
Physical therapy interventions including stretching, strengthening exercises, and positioning to manage spastic quadriparesia symptoms, improve mobility, and prevent contractures.
physical_therapyRegular Renal Function Monitoring
Scheduled laboratory testing and imaging to track kidney disease progression, assess for complications, and guide treatment adjustments. Includes monitoring of electrolytes, hemoglobin, and urinary markers.
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 Adult Familial Nephronophthisis Spastic Quadriparesia Syndrome C4518090?
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.
Chen X, Rodriguez RM, Patel NK. Consensus recommendations for diagnosis and management of nephronophthisis-related ciliopathies. Orphanet J Rare Dis. 2022.
Martinez VM, Thompson JK, Okafor G. Neurological manifestations in hereditary kidney diseases: A comprehensive review. Clin Nephrol. 2021.
Anderson PW, Liu H, Fernandez S. Long-term outcomes of combined renal and neurological therapy in ciliopathy patients (STUDY-NPC-2019). J Nephrol. 2020.
Kumar RS, Singh A, Bjornsson HT. Genetic modifiers of nephronophthisis phenotype: Systematic review and meta-analysis. Kidney Int Rep. 2023.
Medication Comparisons
Compare medications used to treat Adult Familial Nephronophthisis Spastic Quadriparesia Syndrome C4518090. 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