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Alport X-linked Dominant Inheritance — ESENeph MCQ

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HardGlomerulonephritisAlport X-linked Dominant InheritanceESENeph

A 52-year-old woman presents with progressive CKD (eGFR 28 mL/min/1.73m2). Ultrasound shows normal-sized kidneys with increased echogenicity. Urine dipstick: protein 1+, blood negative. She has bilateral sensorineural hearing loss and anterior lenticonus on slit-lamp examination. Her son has microscopic haematuria. What is the most likely inheritance pattern?

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Correct answer: D — X-linked dominant

The combination of progressive CKD, sensorineural hearing loss, and anterior lenticonus is pathognomonic of Alport syndrome. The most common form (~80%) is X-linked dominant, caused by COL4A5 mutations. The mother is affected (hearing loss, CKD, lenticonus) — in X-linked Alport, females are heterozygous and can have variable severity ranging from isolated haematuria to ESKD. Her son having haematuria is consistent with X-linked inheritance (he inherited the affected X chromosome). Autosomal recessive Alport (COL4A3/A4) typically presents with equally affected siblings. Autosomal dominant Alport exists but is rarer.

Reference: Kashtan 2021 – Alport Syndrome; JRCPTB 2022 – Nephrology Curriculum