[MIM 145 980, 145 981, 600 740]

(Familial benign hypocalciuric hypercalcemia) 

Anomaly of the phosphocalcic metabolism of autosomal dominant transmission, manifested by hypercalcemia associated with low calciuria and normal to high levels of parathyroid hormone .

From a genetic point of view, there are 3 forms:

-        type 1: mutation in the CASR gene on 3q13.3-q21

-        type 2: mutation in the GNA11 gene on 19p13.3

-        type 3 (or Oklahoma): mutation in the AP2S1 gene on 19q13.32

Hypercalcemia is due to an abnormality (loss of function) of the receptors sensitive to calcium, primarily CASR that plays a important role in the regulation of the phosphocalcic metabolism.  This loss of function results in a decreased sensitivity of parathyroid and renal cells to variations in calcemia.

Anesthetic implications: 

risk of severe neonatal hypocalcemia in children born to a mother who suffers from this condition.

References : 

Updated: March 2019