ea0081ep145 | Calcium and Bone | ECE2022
Rashid Razan Ali
, Quinton Richard
, Joshi Ashwin
Autosomal Dominant Hypocalcaemia (ADH) type 1 is caused by activating mutations of the calcium-sensing receptor (CaSR) gene. Although a rare condition, the exact prevalence is uncertain as patients are asymptomatic and, historically, were sometimes diagnosed with hypoparathyroidism (HPT) due insensitivity of earlier PTH assays and failure to check urinary calcium. The consequences of an erroneous diagnosis of HPT in patients with ADH can be profound, as treatment with calcium ...