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Advanced Practice: Rare Inherited Kidney Diseases (Alport Syndrome)

Author: Noah Carpenter, MD, Kellie Wilson, PharmD

CE: 2.5 hours Pharmacology: 0.5 hour
Rated 4.7 out of 5.0 based on 2538 reviews

Course Summary

This course is for Advanced Practice Registered Nurses, Registered Nurses and other Interdisciplinary Health Team Members who are seeking autonomous practice or advanced certification continuing education credits. Alport syndrome (AS) is described as a rare genetic disorder characterized by progressive kidney disease and abnormalities of the ears and eyes. Three genetic types of AS have been identified: X-linked (XLAS), autosomal recessive (ARAS) and autosomal dominant (ADAS). X-linked Alport syndrome is the most common, typically affecting males more than females. Three genetic forms of AS have been reported to date, which include the XLAS, ARAS, and ADAS. The treatment is symptomatic and is aimed at slowing the progression of renal disease and renal failure. Kidney transplantation is required in many patients as the disease advances. Researchers have determined that the progression and severity of AS tends to vary based upon the specific mutation present in a gene as well as the specific location of the mutation on the gene. This is known as genotype-phenotype correlation and allows clinicians to predict individuals who are at risk of early-onset renal failure or are more likely to develop extra-renal abnormalities.

Course Format


Course Syllabus

  1. Introduction
  2. Forms of Alport Syndrome
  3. Symptoms of Alport Syndrome
  4. Genetic Causes and Diseases
    1. Diffuse Leiomyomatosis
    2. AMME Complex
    3. Damage to the Glomerular Basement Membrane
  5. Signs and Symptoms of AS
    1. Pathogenic Variant
    2. Clinical Stages of Glomerulopathy
    3. Symptoms of Renal Function Loss
    4. Hearing Loss
    5. Eye Abnormalities
    6. Other Symptoms
  6. Diagnosis of AS
    1. Genetic Testing
    2. Skin Samples
    3. Kidney Biopsy
    4. Alterations to Glomerular Basement Membrane
    1. Urinalysis
    2. Hearing Loss
    1. Eye Abnormalities
    2. Prenatal Diagnostics
    3. Diagnostics for Kidney Donation
  7. Differential Diagnosis
    1. Causes of Hematuria
    2. Causes of Hearing Loss and Eye Abnormalities
  8. Treatment and Symptom Management
    1. Renin-angiotensin-aldosterone system (RAAS) inhibition
    2. Angiotensin-converting Enzyme (ACE) Inhibitors
    3. Angiotensin Receptor Blockers (ARBs)
    4. Cyclosporine
    5. Newer Drugs on the Horizon
    6. Dialysis and Kidney Transplant
    7. General Recommendations
  9. Case Study: Alport Syndrome in Two Half-Brothers
  10. Summary


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