Nephrocalcinosis or nephrolithiasis may have a genetic cause, especially after acquired causes have been excluded.

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.

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.

Genetic causes of asymptomatic hypercalcaemia are important to consider when planning investigation and treatment.

In a young adult presenting with persistent hypokaleamic metabolic alkalosis, it is important to consider genetic causes after acquired aetiologies have been investigated and ruled out. Renal tubulopathies are the most common genetic cause of such a scenario.