Familial hypocalciuric hypercalcemia
Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism Effects of mutant gene dosage on phenotype
... with familial hypocalciuric hypercalcemia, a benign condition transmitted as a dominant ...of familial hypocalciuric ...for familial hypocalciuric hypercalcemia on ...
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Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series
... with familial hypocalciuric hypercalcemia with inactivating mutations in the CaSR gene were included in the treatment ...to familial hypocalciuric ...
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A novel mutation in the calcium sensing receptor gene in an Irish pedigree showing familial hypocalciuric hypercalcemia: a case report
... Familial hypocalciuric hypercalcemia (FHH) is a rare autosomal dominant disease that runs a benign course. Its prevalence is not clearly established [1]. It is impor- tant to differentiate it from ...
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Markedly reduced activity of mutant calcium sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism
... ders, familial hypocalciuric hypercalcemia (FHH) and neo- natal severe hyperparathyroidism (NSHPT), to understand how this insertion affects CASR ...
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Identification of a novel large CASR deletion in a patient with familial hypocalciuric hypercalcemia
... performed a clinical and genetic characterization of one patient suspected of familial hypocalciuric hypercalcemia type I. Patient presented persistent hypercalcemia with normal PTH and ...
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Urinary calcium excretion in familial hypocalciuric hypercalcemia Persistence of relative hypocalciuria after induction of hypoparathyroidism
... calcium, calcium clearance was lower in FHH than in controls; at base-line serum calcium, the ratio of calcium clearance to inulin clearance (C Ca /C IN ) in FHH subjects was 32% of that in controls and decreased to 19% ...
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A novel CaSR mutation presenting as a severe case of neonatal familial hypocalciuric hypercalcemia
... moderate hypercalcemia but is otherwise ...moderate hypercalcemia and hyperparathyroidism was found to have a novel inactivating missense mutation of the CaSR not detected in her ...
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Familial hypocalciuric hypercalcemia with a de novo heterozygous mutation of calcium-sensing receptor
... of hypercalcemia, was the first child of non- consanguineous ...to hypercalcemia, such as frequent urination, muscle weak- ness, or delirium, although her hypercalcemia had been pointed out when she ...
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Asymptomatic Neonatal Familial Hypercalcemia
... In the context of subsequently well docu- mented familial hypocalciuric hypercalcemia, Spie- gel et al’4 and Marx et al2’ described an infant with severe neonatal hyperparathyroidism in [r] ...
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Hypercalcemia, Anemia, and Acute Kidney Injury: A Rare Presentation of Sarcoidosis
... as hypocalciuric hyper- calcemia, multiple myeloma, vitamin A and vitamin D intoxication, thyrotoxicosis, tuberculosis, fungal infections, thyrotoxicosis, lymphoma, and ...mediated hypercalcemia the two ...
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Diseases associated with calcium-sensing receptor
... hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects. Hum Mol Genet. 2015;24:5079 – 92. 25. Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, ...
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Uncharted waters: rare and unclassified cardiomyopathies characterized on cardiac magnetic resonance imaging
... Dublin 4, Ireland.. 11 , 12 ) Familial Familial, unknown gene Familial, unknown gene Familial, unknown gene Familial, unknown gene Familial, unknown gene Sarcomeric protein mutations Sar[r] ...
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Denosumab Use in a Patient with Bisphosphonate-Resistant Humoral Hypercalcemia of Malignancy
... This patient’s hypercalcemia became increasingly difficult to control. Despite an increase of zoledronic acid administration every 2 weeks and the addition of prednisone, he had four subsequent admissions with ...
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Hypercalcemia of malignancy revisited
... These advances include discovery and characterization of the PTH-related protein PTH-rP' produced by many solid tumors, demonstration of tumor-derived transforming growth factor-alpha TG[r] ...
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SEVERE IDIOPATHIC HYPERCALCEMIA OF INFANCY
... SEVERE IDIOPATHIC HYPERCALCEMIA OF INFANCY.. By George L.[r] ...
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Multiple myeloma/hypercalcemia
... MIP-1 α is a member of the C-C chemokine family produced by myeloma cells and has been implicated as an important mediator in myeloma bone disease that stimulates osteoclast formation and differentiation, and bone ...
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On the Mechanism of Hyposthenuria in Hypercalcemia
... The micropuncture data obtained from the papilla of hypercalcemic hamsters do not support the view that the collecting ducts develop a selective impermeability to water since no consiste[r] ...
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THE HYPERCALCEMIA OF ADRENAL INSUFFICIENCY
... Several other factors, singly or in combination, account for this hypercalcemia: hemoconcentration, increased plasma concentration of citrate and other complexing anions, and an abnormal[r] ...
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IDIOPATHIC HYPERCALCEMIA OF INFANCY
... X., and Schwartz, R.: “Vitamin D activity” in idiopathic hypercalcemia (abstract). L.: Idiopathic hyper- calcaemia of infancy; clinical an meta- bolic studies with special reference to. [r] ...
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Body composition study by dual-energy x-ray absorptiometry in familial partial lipodystrophy: finding new tools for an objective evaluation
... Genetic studies were carried out in the 18 female patients with partial lipodystrophy phenotype. The thir- teen women that confirmed diagnosis of Dunnigan-type FPL (FPLD2) belonged to six different families. Family C and ...
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