Persistent microscopic haematuria may have a genetic cause, especially when familial or associated with extrarenal features.
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.
For some children presenting with non-nephrotic proteinuria, there will be a genetic cause.
In the majority of children presenting with cystic renal disease, there is an underlying monogenic cause.
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.
Unexplained chronic kidney disease, particularly if there is a family history, might be due to genetic tubulointerstitial kidney disorders.
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.