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MYH9-Related Disease — ESENeph MCQ

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HardGlomerulonephritisMYH9-Related DiseaseESENeph

A 45-year-old woman presents with CKD G3b, hearing loss, and thrombocytopenia with giant platelets. She has a family history of kidney disease. Kidney biopsy shows focal segmental glomerulosclerosis with basement membrane lamellation. Genetic testing reveals a MYH9 mutation. What is the diagnosis?

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Correct answer: C — MYH9-related disease (formerly Epstein/Fechtner syndrome) – autosomal dominant disorder causing nephritis, sensorineural deafness, thrombocytopenia with giant platelets, and leukocyte inclusions

MYH9-related disorders are caused by mutations in the MYH9 gene encoding non-muscle myosin heavy chain IIA. They present with macrothrombocytopenia (giant platelets), sensorineural hearing loss, and progressive nephropathy (often FSGS or podocyte injury). Previously classified as separate syndromes (Epstein, Fechtner, Sebastian, May-Hegglin), they are now unified as MYH9-related disease. The triad of nephritis, deafness, and haematological abnormalities can mimic Alport syndrome, but the platelet abnormality and genetic testing distinguish them. Management is supportive (RASi, CKD care).

Reference: Savoia and Pecci 2014 – MYH9-Related Disease; KDIGO 2021 – GN