skip to main content

Alport syndrome — ESENeph MCQ

Instant feedback + full explanation. One question, done properly.

HardInherited and Rare Renal DiseaseAlport syndromeESENeph

A 29-year-old with a pathogenic COL4A5 variant and established Alport syndrome develops abrupt nephrotic syndrome with albumin 18 g/L and protein excretion 8 g/day. Previous ACR was 45 mg/mmol. What is the best interpretation?

Educational content. Not a substitute for clinical judgement or local policy.

Reveal the answer and explanation

Correct answer: D — Investigate a superimposed glomerulopathy and biopsy when the result could alter treatment

Explanation lettering: D = shown as A · E = shown as C · A = shown as D · C = shown as E

A is correct. Albuminuria is an important progression marker in Alport syndrome, but abrupt heavy nephrotic syndrome is not the expected gradual trajectory and should prompt evaluation for superimposed glomerular disease. A pathogenic COL4A5 result confirms Alport syndrome; it does not prevent a second diagnosis. Serology, medication review and kidney biopsy may be needed when the result would change treatment. Empirical immunosuppression without defining the lesion risks harm, while simply increasing RAS blockade may reduce proteinuria but would fail to explain the sudden phenotype.

Reference: 2024 guideline on Alport syndrome diagnosis and management: https://pmc.ncbi.nlm.nih.gov/articles/PMC12209846/