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Congenital/Genetic Kidney Disease

AUTHOR:
Joanna Odenthal
LEARNING OBJECTIVES:
  1. Formulate a differential for kidney cysts, including ADPKD, ARPKD, and VHL disease.
  2. Recognize the variable clinical presentation of Autosomal Dominant Polycystic Kidney Disease including when it presents, disease progression and prognosis, and complications associated with the disease. 
  3. Identify the diagnosis and management of ADPKD.
  4. Know the presentation, morbidity and mortality associated with Autosomal Recessive Polycystic Kidney Disease. 
  5. Describe the imaging findings needed for diagnosis and recognize transplant as the only definitive treatment of ARPKD.
  6. Describe the  kidney findings and monitoring required for patients with Tuberous Sclerosis and Von Hippel-Lindau Disease.
  7. Recognize Medullary Cystic Kidney Disease (also known as Autosomal Dominant Interstitial Kidney Disease) as a cause of glomerulosclerosis and chronic kidney disease, and describe the clinical presentation and management.
Chapter
AccessMedicine > Harrison's Principles of Internal Medicine, 21e > Polycystic Kidney Disease and Other Inherited Disorders of Tubule Growth and Development
Chapter
AccessMedicine > Current Medical Diagnosis & Treatment 2024 > Autosomal Dominant Polycystic Kidney Disease

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