Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Hypercalciurische Hypocalciämie 1

Die hypercalciurische Hypocalciämie 1 ist eine autosomal dominante Hypocalciämie mit Bartter-Syndrom, welche durch funktionssteigernde Mutationen des Calcium-Rezeptors hervorgerufen wird.

Gliederung

Bartter-Syndrom
Antenatales Bartter-Syndrom Typ 1
Antenatales Bartter-Syndrom Typ 2
Hypercalciurische Hypocalciämie 1
CASR
Hypercalciurische Hypocalciämie 2
Infantiles Bartter-Syndrom mit Schwerhörigkeit Typ 4
Klassisches Bartter-Syndrom

Referenzen:

1.

Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.

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2.

Stock JL et al. (1999) Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.

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3.

Lienhardt A et al. (2000) A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.

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4.

Brown EM et al. (2001) Extracellular calcium sensing and extracellular calcium signaling.

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5.

Nagase T et al. (2002) A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.

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6.

Sato K et al. (2002) Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.

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7.

Watanabe S et al. (2002) Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.

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8.

Tan YM et al. (2003) Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.

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9.

Hendy GN et al. (2003) Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.

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10.

Hough TA et al. (2004) Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.

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11.

Mittelman SD et al. (2006) A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.

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12.

Finegold DN et al. (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.

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13.

Pollak MR et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.

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14.

Løvlie R et al. (1996) The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.

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15.

Baron J et al. (1996) Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.

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16.

Pearce SH et al. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.

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17.

De Luca F et al. (1997) Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.

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18.

Watanabe T et al. (1998) Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.

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19.

Okazaki R et al. (1999) A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.

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20.

Yamamoto M et al. (2000) Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?

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21.

Thakker RV et al. (2001) Genetic developments in hypoparathyroidism.

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22.

Vargas-Poussou R et al. (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.

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23.

Hu J et al. (2004) Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.

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24.

Vezzoli G et al. () Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.

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