4th March 2024

A 45-year-old man is known to the renal unit for his chronic condition

A 45-year-old man is known to the renal unit for his chronic condition. He was initially seen in the clinic at 30 with worsening renal function and proteinuria. He has diffuse dark red papules along his groin, thighs and lower abdomen. An echocardiogram at age 35 has shown significant concentric left ventricular hypertrophy. He also developed sensorineural hearing loss at the age of 39.

A renal biopsy showed vacuolisation of the podocytes and distal tubular cells. Electron microscopy showed lamellar inclusions within the podocytes with an “onion-skin” appearance. He also experienced significant pains peripheral neuropathic pain.

What is the likely diagnosis?

Select the SINGLE most appropriate option from the list below. Select ONE option only.