Alport Syndrome – Board-Style Questions

What this deck covers

Alport Syndrome in 18 board-style clinical cases with worked explanations. Each case gives you a clinical vignette, four options, the correct answer, and an explanation of why each of the other three is wrong, with the guideline or textbook it follows named on the answer.

Board-style teaching questions for paediatricians and trainees preparing for paediatric board, MRCPCH and licensing examinations. Written from published guidelines and standard paediatric textbooks, with the source named on every answer.

The 18 cases, in order

1. Reading the family tree
2. The sign in the eye
3. Listening for it
4. Gene or needle
5. When both parents carry it
6. The mother who was told she was fine
7. When treatment starts
8. Under the microscope
9. The hearing aid question
10. Sport and painkillers
11. Who else is tested
12. What the variant predicts
13. How often to check
14. The mother as donor
15. The graft that is attacked
16. Pregnancy later
17. The look-alike
18. A result that says nothing

Diagnoses and management options tested

Across the 18 cases you are asked to choose between options such as: An affected maternal uncle with deafness and kidney failure, Dot and fleck changes seen around the macula, Regular audiometry from now, repeated every year or two, A kidney biopsy with electron microscopy first, X-linked, with unusually severe disease in girls, Nothing at all, as carriers of this condition remain well, Now, on the basis of sustained proteinuria, A tram-track pattern of double contours, Treating the ears early slows the kidney disease, Stop all of his contact sport because of the kidney disease, His mother, his siblings and his maternal relatives, Whether hearing loss will occur at all, Discharge her, as she has no protein at present, Accept, as carriers make ideal related donors.

Clinical pearls from this deck

• Deafness and dialysis in a maternal uncle names the disease.
• A cone on the front of the lens all but names this disease.
• The hearing loss is found by the audiometer, not by the parents.
• Test the gene before you reach for the needle.
• Two affected daughters with well parents: think recessive.
• The carrier mother needs her own kidneys watched.

Work through the deck once for recognition, then again a week later to test yourself — each question gives the answer and explains why every other option fails.

More from this system: all nephrology case decks · pediatric reference values.