Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

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

external link
4.

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

external link
5.

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

external link
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.

external link
7.

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

external link
8.

OMIM.ORG article

Omim 606679 external link
Update: Aug. 14, 2020
Copyright © 2005-2024 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits