This Month in The Journal

The G-protein-coupled receptor CaSR monitors and maintains homeostasis of blood calcium levels. Heterozygous mutations in CASR cause two distinct disorders: familial hypocalciuric hypercalcemia type 1 (FHH1) and autosomal-dominant hypocalcemia type 1 (ADH1). Medical intervention is not usually warranted for FHH1; however, the serum profiles mirror those observed in primary hyperparathyroidism, a condition typically treated by parathyroidectomy. More detailed testing is required to differentiate between the two disorders and avoid unnecesary medical procedures.
Source: The American Journal of Human Genetics - Category: Genetics & Stem Cells Authors: Tags: Editors' Corner Source Type: research