Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Nephrolithiasis diarrhea syndrome

This new disorder is characterized by nephrolithiasis and diarrhea and probably caused by mutations of the SLC26A6 gene.

Systematic

Urolithiasis
Cystinuria
Dicarboxylic aminoaciduria
Dihydroxyadenin urolithiasis
Nephrocalcinosis
Nephrolithiasis diarrhea syndrome
SLC26A6
Susceptibility to nephrolithiasis
Uric acid nephropathy

References:

1.

Jiang Z et al. (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6.

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2.

None (2006) A key stone cop regulates oxalate homeostasis.

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3.

None (2009) Recent advances in the pathophysiology of nephrolithiasis.

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4.

None (1960) Heredity in renal stone disease.

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5.

SHEPARD TH et al. (1960) Primary hyperoxaluria. II. Genetic studies in a family.

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6.

Suzuki Y et al. (2008) Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.

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7.

Thorleifsson G et al. (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.

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8.

Yendt ER et al. (1978) Prevention of calcium stones with thiazides.

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9.

Baggio B et al. (1986) An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics.

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10.

None (1979) Family history of renal stones in a population study of stone-formers and health subjects.

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11.

Smith LH et al. (1974) Acquired hyperoxaluria, urolithiasis, and intestinal disease: a new digestive disorder?

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12.

Resnick M et al. (1968) Genetic predisposition to formation of calcium oxalate renal calculi.

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13.

Marangella M et al. (1982) Hyperoxaluria in idiopathic calcium stone disease: further evidence of intestinal hyperabsorption of oxalate.

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14.

Robertson WG et al. (1980) The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria?

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15.

Cousin JL et al. (1976) The role of carbonic anhydrase inhibitors on anion permeability into ox red blood cells.

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16.

OMIM.ORG article

Omim 167030 external link
Update: Aug. 14, 2020
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