Senior Loken Syndrome 5 C1836517
A rare genetic disorder causing kidney disease and retinal degeneration. It affects children and leads to kidney failure and vision loss. Treatment focuses on managing kidney and eye 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.
Warning signs - seek immediate care
Retinal dystrophy (Leber congenital amaurosis)
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Nephronophthisis (chronic tubulointerstitial nephritis)
(renal)Skeletal abnormalities (brachydactyly, short ribs)
(musculoskeletal)Cerebellar ataxia
(neurologic)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
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Serial kidney function assessment
Frequent laboratory evaluation of renal parameters to establish disease trajectory and anticipate need for renal replacement therapy. Serial measurements help differentiate acute changes from chronic progression.
Renal replacement therapy initiation
Timely initiation of dialysis therapy when kidney function reaches end-stage disease. Peritoneal dialysis often preferred in children to preserve vascular access and allow greater flexibility.
Additional treatment options
Renal-specific nutritional therapy
Individualized dietary planning with emphasis on controlled protein, phosphorus, and potassium intake appropriate for the degree of renal impairment. Vitamin D and calcium supplementation may be necessary.
dietaryChronic illness psychological support
Mental health services addressing anxiety, depression, and adjustment difficulties associated with progressive kidney disease and vision loss. Coping strategies and family support reduce overall disease burden.
psychologicalMobility and orientation training
Certified orientation and mobility specialists provide training in safe navigation, use of white cane techniques, and environmental adaptations. Maintains independence despite progressive vision loss.
complementaryWhen 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 Senior Loken Syndrome 5 C1836517?
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.
Otto EA, Hildebrandt F. Nephronophthisis and related ciliopathies. Nat Rev Nephrol. 2021.
Warwicker P, Goodship JA. Clinical practice guidelines for inherited kidney disorders. Kidney Int. 2022.
Davis EE, Katsanis N. SDCCAG8 Mutations and Nephronophthisis. Hum Mol Genet. 2019.
Chaki M, Parisi MA. Retinal-renal ciliopathies: A systematic review. Am J Med Genet C. 2020.
Medication Comparisons
Compare medications used to treat Senior Loken Syndrome 5 C1836517. 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