Persistent microscopic haematuria may have a genetic cause, especially when familial or associated with extrarenal features.
Nephrocalcinosis or nephrolithiasis may have a genetic cause, especially after acquired causes have been excluded.
Primary C3 glomerulopathy, sometimes known as membranoproliferative glomerulonephritis, may have a genetic cause, especially when there is family history of the condition or first-degree relatives with unexplained end-stage renal disease.
The presentation of idiopathic infantile hypercalcaemia is highly variable and may not present until adulthood, for example in pregnancy or when taking vitamin D supplements. This metabolic renal condition is an important cause of hypercalcaemia and should be considered, particularly if other acquired causes of hypercalcaemia have been excluded.
Individuals with both parents of African, African-American, Caribbean or Brazilian heritage have an increased risk of chronic kidney disease and progression to kidney failure. Part of this risk is explained by the presence of two apolipoprotein L1 (APOL1) high-risk gene variants (G1/G2) and therefore genomic testing is relevant to potential living kidney donors from these backgrounds.
Genetic etiologies are responsible for about 10% of cases of cardiac and renal amyloidosis in the UK.
In a young adult presenting with electrolyte disturbance, it is important to consider genetic causes after acquired aetiologies have been investigated and ruled out. Renal tubulopathies are the most common genetic cause in such a scenario.
A fetus has a 50% (1-in-2) chance of inheriting autosomal dominant polycystic kidney disease if a parent is affected.
Genetic causes of asymptomatic hypercalcaemia are important to consider when planning investigation and treatment.
CFHR5 nephropathy is a form of inherited kidney disease which is endemic in Cyprus and caused by a variant in the CFHR5 gene.