Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Susceptibility to nephrolithiasis

Susceptibility to nephrolithiasis is a predisposition to kidney stones independent of a metabolic disorder. Kidney stones can have different chemical composition, uric acid (ZNF365) or the usual calciumaxalate (CASR, TRPV5, ALPL).

Systematic

Urolithiasis
Cystinuria
Dicarboxylic aminoaciduria
Dihydroxyadenin urolithiasis
Nephrocalcinosis
Nephrolithiasis diarrhea syndrome
Susceptibility to nephrolithiasis
ALPL
CASR
SLC26A1
TRPV5
ZNF365
Uric acid nephropathy

References:

1.

Chang Q et. al. (2005) The beta-glucuronidase klotho hydrolyzes and activates the TRPV5 channel.

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2.

Peng JB et. al. (2001) Structural conservation of the genes encoding CaT1, CaT2, and related cation channels.

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3.

Suzuki M et. al. (2002) A single amino acid mutation results in a rapid inactivation of epithelial calcium channels.

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4.

Hoenderop JG et. al. (2003) Renal Ca2+ wasting, hyperabsorption, and reduced bone thickness in mice lacking TRPV5.

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5.

van der Eerden BC et. al. (2005) The epithelial Ca2+ channel TRPV5 is essential for proper osteoclastic bone resorption.

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6.

Gianfrancesco F et. al. (2003) Identification of a novel gene and a common variant associated with uric acid nephrolithiasis in a Sardinian genetic isolate.

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7.

Ombra MN et. al. (2001) Identification of a new candidate locus for uric acid nephrolithiasis.

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Update: Sept. 26, 2018