Differential parathyroid and kidney Ca²⁺-sensing receptor activation in autosomal dominant hypocalcemia 1.

ABSTRACT:

Background

Parathyroid Ca²⁺-sensing receptor (CaSR) activation inhibits parathyroid hormone (PTH) release, while activation of renal CaSRs attenuates Ca²⁺ transport and increases expression of the pore-blocking claudin-14. Patients with autosomal dominant hypocalcemia 1 (ADH1), due to activating CASR mutations, exhibit hypocalcemia but not always hypercalciuria (elevated Ca²⁺ in urine). The latter promotes nephrocalcinosis and renal insufficiency. Although CaSRs throughout the body including the kidney harbor activating CASR mutations, it is not understood why only some ADH1 patients display hypercalciuria.

Methods

Activation of the CaSR was studied in mouse models and a ADH1 patient. In vitro CaSR activation was studied in HEK293 cells.

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SUBMITTER: van Megen WH 

PROVIDER: S-EPMC8935519 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature