Familial hypocalciuric hypercalcemia and related disorders
JY Lee, DM Shoback - Best practice & research Clinical endocrinology & …, 2018 - Elsevier
Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic
mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α
11, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other
conditions causes significant morbidity and mortality, FHH generally follows a benign
course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the
mistaken diagnosis of primary hyperparathyroidism (PHPT), given the significant overlap of …
mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α
11, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other
conditions causes significant morbidity and mortality, FHH generally follows a benign
course. Failure to diagnose FHH can result in unwarranted treatment or surgery for the
mistaken diagnosis of primary hyperparathyroidism (PHPT), given the significant overlap of …
