22nd June 2023

A 25-year-old adopted male is being seen in the genetics clinic due to the development of progressive renal failure

A 25-year-old adopted male is being seen in the genetics clinic due to the development of progressive renal failure with associated haematuria and proteinuria, and progressive sensorineural hearing loss. During a recent ophthalmology appointment, he was found to have anterior lenticonus.

Given the likely underlying diagnosis, the associated mutations affect which part of the nephron?

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