Article
A case of gain-of-function mutation in calcium-sensing receptor: supplemental hydration is required for renal protection.
Clinical nephrology - 1 Jun 2005
Suzuki M, Aso T, Sato T, Michimata M, Kazama I, Saiki H, Hatano R, Ejima Y, Miyama N, Sato A, Matsubara M
Abstract excerpt
AIMS: The calcium-sensing receptor (CaSR) regulates the extracellular calcium level, mainly by controlling parathyroid hormon secretion and renal calcium reabsorption. In gain-of-function CaSR mutations, the genetic abnormalities increase CaSR activity leading to the development of such clinical manifestations as hypercalciuric hypocalcemia and hypoparathyroidism. We report a Japanese case of CaSR...
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