Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.

ABSTRACT:

Purpose

Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria. New treatments such as PTH analogues and calcilytics directly targeting the CASR are in the pipeline. Specific clinical guidance for treatment and monitoring

SUBMITTER: De Coster T 

PROVIDER: S-EPMC11950097 | biostudies-literature | 2025 Apr

REPOSITORIES: biostudies-literature