RT Journal Article
T1 [Familial hypocalciuric hypercalcemia: A case report].
T2 Hipercalcemia hipocalciúrica familiar: Descripción de un caso.
A1 Andrade Navarro, María T
A1 Pérez González, Elena
A1 Cantos Pastor, Virginia
A1 Marín Patón, Mariano
A1 Lara Ruiz, Alfonso
K1 Familial-CaSR gene
K1 Hypocalciuric hypercalcemia
AB The finding of persistent hypercalcemia suggests doing other medical tests to find the cause. Familial hypocalciuric hypercalcemia is usually benign and it requires no treatment. It is important to do CASR gene sequencing to avoid unnecessary treatments. We report a 12-year-old child, asymptomatic, with calcemia between 11.4 and 12.2 mg/dl. His father and two brothers presented asymptomatic hypercalcemia. The blood test with magnesium, phosphorus, 25(OH)Vit D was normal, remarkable normal parathyroid hormone for the level of hypercalcemia. Urinary calcium/creatinine ratio was 0,11 mg/dl and 24-hour urinary calcium was 1,8 mg/kg per day. Abdominal and parathyroid ecography, long bone radiographs and densitometry were normal. Genetic study showed a mutation, c.1651A>G, in exon 6 of the calciumsensing receptor gene, confirmed in father and brothers, too.
YR 2018
FD 2018
LK http://hdl.handle.net/10668/13212
UL http://hdl.handle.net/10668/13212
LA es
DS RISalud
RD Apr 6, 2025