Persistent microscopic haematuria may have a genetic cause, especially when familial or associated with extrarenal features.

For some children presenting with non-nephrotic proteinuria, there will be a genetic cause.

For some children presenting with haematuria, there will be a genetic cause. The likelihood of a genetic cause is greater if there is also a family history of chronic kidney disease, haematuria (macro or microscopic) or sensorineural hearing loss in a first-degree relative, for example.

Over a third of children presenting with unexplained end-stage renal disease may have an underlying monogenic cause. Establishing a genetic diagnosis can inform management, treatment and genomic counselling decisions.

Monogenic forms of nephrotic syndrome are typically steroid resistant with onset <18 years of age; the presence of extra-renal features and/or a positive family history may also be suggestive.

Non-nephrotic proteinuria in adults can be genetic in origin.