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

Homestudy

Learning Objectives

• To provide health clinicians with knowledge about Alport syndrome as a type of kidney disease, as well as diagnostic methods to achieve early recognition of and to initiate and effectively treat syndromic conditions of the kidney and other predictive physical signs of the risk of kidney disease

Course Syllabus

• Introduction
• Forms of Alport Syndrome
• Symptoms of Alport Syndrome
• Genetic Causes and Diseases
  1. Diffuse Leiomyomatosis
  2. AMME Complex
  3. Damage to the Glomerular Basement Membrane
• 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
• 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
• Differential Diagnosis
  1. Causes of Hematuria
  2. Causes of Hearing Loss and Eye Abnormalities
• 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
• Case Study: Alport Syndrome in Two Half-Brothers
• Summary

Authors

Noah H. Carpenter, MD

Dr. Noah Carpenter is a Thoracic and Peripheral Vascular Surgeon. He completed his Bachelor of Science in chemistry and medical school and training at the University of Manitoba. Dr. Carpenter completed surgical residency and fellowship at the University of Edmonton and Affiliated Hospitals in Edmonton, Alberta, and an additional Adult Cardiovascular and Thoracic Surgery fellowship at the University of Edinburgh, Scotland. He has specialized in microsurgical techniques, vascular endoscopy, laser and laparoscopic surgery in Brandon, Manitoba and Vancouver, British Columbia, Canada and in Colorado, Texas, and California. Dr. Carpenter has an Honorary Doctorate of Law from the University of Calgary, and was appointed a Citizen Ambassador to China, and has served as a member of the Indigenous Physicians Association of Canada, the Canadian College of Health Service Executives, the Science Institute of the Northwest Territories, Canada Science Council, and the International Society of Endovascular Surgeons, among others. He has been an inspiration to youth, motivating them to understand the importance of achieving higher education.

Kellie Wilson, PharmD

Kellie Wilson is a Doctor of Pharmacy practicing in Anaconda, Montana, where she lives with her husband and four children. She attended the University of Montana in Missoula where she graduated in 2009 with a doctorate in pharmacy. She later worked in Boise, Idaho for a large, retail pharmacy for 2 years, and then returned home to Montana to oversee an independently owned retail and long-term care pharmacy in Anaconda. As an independent retail pharmacist she has become very involved in psychiatric pharmacy for two major behavioral health organizations that are located around all of Montana. Kellie’s passion is retail pharmacy because she enjoys the interactions with customers as well as the challenges and rewards of staying current with the continuous changes in the pharmacy field.