Page Contents
OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose answer is Alport syndrome. While this may seem a odd practice, it is useful to see multiple examples of how Alport syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each topic has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for Alport syndrome.
Chief Complaints:
- Hearing loss
- Hematuira
Physical Exam:
- Occular abnormalities
Serum Lab Results:
- Elevated creatinine: signs of renal failure
Urinalysis:
- Recurrent hematuria
- Proteinuria
Renal Biopsy
- Lamellate appearance of GBM on electron microscopy.
QUESTION EXAMPLES
Question # 1
A 16 year old boy comes the clinic because he has been having hematuria and lower abodminla pain. This is his 4th case of hematuria in the past 2 years. He explains that he has a family history of renal disease. In the clinic his temperature is 98.6°F, blood pressure is 145/85 mm Hg, pulse is 75/min, and respirations are 15/min. His examination shows mild sensorineural deafness bilaterally. A urinalysis is collected and reveals the presence of both blood and protein in the urine. Lab studies are shown below:
- Creatinine: 3.2 mg/dL
- BUN: 51 mg/dL
A renal biopsy shows the presence of foam cells and immunofluorescence confirms the absence of iummunoglobins or complement. An electron microscopy shows alternating areas of thinned and thickened capillary loops with the splitting of the glomerular basement membranes. What diagnosis would explain this presentation and these findings?
Explanation # 1
Child + recurrent hematuria + proteinuria + sensorineural deafness + electron microscopy results (splitting GBM) = Alport syndrome
Question # 2
A 35 year old male has a X-linked recessive condition that causes hematuria, deafness, and also progressive renal failure. What condition is this patient likely suffering from?
Explanation # 2
X-linked condition + hematuria + deafness + renal failure = Alport syndrome
TESTABLE FACTS ABOUT THIS TOPIC (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying topic. Often there are specific testable facts regarding some aspect of the topic’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
Cause:
- Protein: defective type IV collagen in the glomerular basement membrane
- Inheritance pattern: X-linked recessive
Features On Electron Microscopy:
- Lamellate basement membrane containing irregular thickening and thinning (called a “basket-weave” appearance).
Page Updated: 11.24.2016