Familial Juvenile Hyperuricemic Nephropathy Type 1 C4551496
A genetic kidney disease causing high uric acid levels and kidney damage in young people. Management includes medications and dietary changes to protect kidney function.
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
Hyperuricemia
(renal)Gout
(renal)Nephropathy
(renal)Renal failure
(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
Allopurinol or Febuxostat
Xanthine oxidase inhibitor therapy to reduce uric acid production at the source. This addresses the underlying pathophysiology of hyperuricemia in UMOD-associated nephropathy, protecting kidney function from urate crystal damage.
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Renal Function Surveillance
Regular monitoring of kidney function through serum creatinine, estimated glomerular filtration rate, and proteinuria assessment. Early detection of function decline allows timely intervention to slow disease progression.
Additional treatment options
Strict Purine Restriction
Aggressive dietary purine limitation to minimize uric acid burden on compromised kidneys. This includes complete avoidance of high-purine foods and careful attention to hidden purine sources in processed products.
dietaryBlood Pressure Optimization
ACE inhibitors or ARBs to control hypertension and provide renoprotective effects. These agents reduce proteinuria and slow glomerular sclerosis progression in hyperuricemic nephropathy.
medicationRenal-Protective Lifestyle
Comprehensive approach including smoking cessation, moderation of alcohol intake, and avoidance of nephrotoxic substances. These modifications reduce additional renal stress beyond the primary disease process.
lifestyleWhen 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 Familial Juvenile Hyperuricemic Nephropathy Type 1 C4551496?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
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View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy