Hypoparathyroidism in Autosomal Dominant Hypocalcaemia (ADH) with Elevated Risk of Hypercalciuria and Renal Complications
Patients with autosomal dominant hypocalcaemia (ADH) represent a distinct sub-population requiring a tailored approach to hypoparathyroidism management — one that prioritises the prevention of hypercalciuria and renal harm over straightforward calcium normalisation.
ADH carries a heightened susceptibility to hypercalciuria and associated renal complications. Close monitoring is essential for patients with ADH who are receiving treatment, as standard calcium correction targets applied in other forms of hypoparathyroidism are not appropriate here and may increase renal risk.
Management centres on conventional therapy aimed deliberately at lower serum calcium targets than those used in other forms of hypoparathyroidism — and, importantly, asymptomatic patients are generally not treated unless calcium levels are very low and there is no hypercalciuria. In select patients an additional agent may be introduced to help reduce urinary calcium excretion. Targeted emerging therapies acting on the calcium-sensing receptor pathway are also under investigation for ADH1. The complete treatment algorithm, decision criteria, and goals are set out in the full structured protocol.
The primary objectives are to reduce urinary calcium excretion and to maintain serum calcium at the lower target range appropriate for ADH — avoiding hypercalciuria throughout.
References
DOI: 10.1093/ejendo/lvaf222
- We recommend close monitoring of patients with autosomal dominant hypocalcaemia (ADH), who are being treated with calcium and/or activated vitamin D, as such patients may be at greater risk of hypercalciuria and renal complications.
- Asymptomatic patients should, in general, not be treated unless calcium levels are very low and there is no hypercalciuria.
- Therefore, target serum calcium levels may be lower in ADH than in other forms of hypoparathyroidism where renal calcium handling is less affected.
- Besides conventional treatment, thiazide diuretics are prescribed in some patients with ADH to reduce urinary calcium excretion.
- Encaleret, an oral calcilytic, has shown efficacy and safety in a phase 2b trial in 13 patients with ADH1 and is currently being evaluated in a multinational phase 3 trial.