Familial hypocalciuric hypercalcemia

Familial hypocalciuric hypercalcemia
SpecialtyEndocrinology, medical genetics

Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon.[1] It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day (hypocalciuria).

  1. ^ Bletsis, Panagiotis; Metzger, Rosemarie; Nelson, J. Alex; Gasparini, Justin; Alsayed, Mahmoud; Milas, Mira (2022-05-17). "A Novel Missense CASR Gene Sequence Variation Resulting in Familial Hypocalciuric Hypercalcemia". AACE Clinical Case Reports. 8 (5): 194–198. doi:10.1016/j.aace.2022.05.002. ISSN 2376-0605. PMC 9508602. S2CID 248872794.