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 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.

In the majority of children presenting with cystic renal disease, there is an underlying monogenic cause.

Congenital anomalies of the kidney and/or urinary tract are commonly identified on antenatal scans or on postnatal investigations.

Kidney cysts are often found incidentally during imaging studies and may represent an underlying inherited cystic kidney disease.

Café-au-lait macules are pigmented lesions (patches) that can be found anywhere on the body and typically range from light to dark brown in colour. The appearance of one or two is common within the general population. However, multiple café-au-lait macules in children, especially when accompanied by other suggestive features, may indicate an underlying genetic condition.