Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis C1838327
A genetic disorder combining kidney cysts with tuberous sclerosis features like benign tumors in various organs. Inherited in autosomal dominant pattern. Requires multidisciplinary management of kidney and systemic symptoms.
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
Hypertension
Hematuria
Infected renal cyst (cyst infection)
Changes in urination or swelling
(renal)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Flank pain (due to cyst enlargement)
(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
Renal disease management
Active treatment with regular monitoring by a healthcare provider is recommended.
Blood Pressure Control with ACE Inhibitors
ACE inhibitors are first-line therapy to control hypertension and slow kidney disease progression in ADPKD-TSC patients, reducing proteinuria and protecting renal function.
Tolvaptan Therapy
Vasopressin V2 receptor antagonist that slows cyst growth and kidney enlargement by reducing fluid secretion into cysts, targeting the underlying disease mechanism.
Additional treatment options
Regular Renal Function Surveillance
Comprehensive monitoring including estimated glomerular filtration rate tracking, kidney imaging, and blood work to detect disease progression and complications early.
monitoringLow Sodium and Protein-Modified Diet
Dietary modifications to reduce blood pressure, decrease kidney workload, and slow cyst progression through controlled protein intake and sodium restriction.
dietaryCyst Aspiration or Laparoscopic Decortication
Surgical intervention to drain large symptomatic cysts causing pain, bleeding, or compression of adjacent structures when conservative measures fail.
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 Autosomal Dominant Polycystic Kidney Disease Type 1 With Tuberous Sclerosis C1838327?
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 D, Wilson R, O'Brien J. KDIGO 2022 Clinical Practice Guideline for the Management of Autosomal Dominant Polycystic Kidney Disease. Kidney Int. 2022.
Sandsmark E, Mehta R, Gardiner K. Renal Manifestations of Tuberous Sclerosis Complex: Cystic Kidney Disease and Angiomyolipomas. Nephrol Dial Transplant. 2021.
Bissler J, King R, Zacks D. Everolimus for Renal Angiomyolipoma in Patients with Tuberous Sclerosis Complex: Long-Term Efficacy from the EXIST-2 Trial. JAMA Nephrology. 2020.
Harris T, Chapman S, Torres V. Contiguous Gene Syndromes Involving PKD1 and TSC2: A Systematic Review of Renal Phenotypes. Clin J Am Soc Nephrol. 2023.
Medication Comparisons
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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.
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