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• W2897081686 abstract "The extracellular calcium ( C a o 2 + )-sensing receptor (CaSR) plays key roles in maintaining C a o 2 + homeostasis by regulating the functions of parathyroid and kidney in response to perturbations in C a o 2 + so as to maintain a nearly constant level of blood calcium. The cloning of the CaSR made it feasible to rapidly identify several disorders arising from inactivating or activating mutations of the receptor. More than 300 such mutations of the CaSR have been reported, the majority of which cause familial hypocalciuric hypercalcemia, type 1 (FHH1), a generally benign hypercalcemic and hypocalciuric condition. Recently, inactivating mutations in genes downstream of the CaSR that also participate in C a o 2 + sensing, namely the G protein, Gα 11 , and the σ-1 subunit of the adaptor-related protein complex 2 (AP2S1), have been identified, which cause FHH2 and FHH3, respectively. These syndromes are similar to those caused by mutations of the CaSR, but with some interesting differences. In contrast to FHH, homozygous inactivating mutations of the CaSR in many cases cause neonatal severe hyperparathyroidism (NSHPT). It is a severe, sometimes life-threatening form of hyperparathyroidism, although it has become increasingly apparent that there is a wide range of severity associated with homozygous inactivating CaSR mutations. Patients with FHH1 and FHH2 generally do not need parathyroid surgery, while total parathyroidectomy is not uncommonly necessary to control hyperparathyroidism and hypercalcemia in NSHPT. Patients with FHH3 can have a somewhat more severe phenotype than in FHH1 or FHH2, and their optimal management requires further study. Activating mutations of the CaSR produce autosomal dominant hypocalcemia (now called ADH1), rarely with features of Bartter’s syndrome (so called type V), because the CaSR is too sensitive to its ligand, C a o 2 + . ADH2, with a similar or perhaps milder phenotype, is caused by heterozygous activating mutations of Gα 11 . As additional hyper- and hypocalcemic patients with CASR , GNA11 , or AP2S1 mutations have been studied, the clinical presentations of the various forms of FHH, ADH, and NSHPT have broadened to the point where their biochemical findings overlap significantly, leading to new diagnostic and therapeutic challenges for the clinician and patient." @default.
• W2897081686 created "2018-10-26" @default.
• W2897081686 creator A5038281830 @default.
• W2897081686 creator A5089580323 @default.
• W2897081686 date "2018-01-01" @default.
• W2897081686 modified "2023-09-24" @default.
• W2897081686 title "Genetically Determined Disorders of Extracellular Calcium (Cao2+) Sensing and Cao2+ Homeostasis" @default.
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