Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Nephrolithiasis-Diarrhoe-Syndrom

Diese bisher noch wenig charakterisierte Erkrankung ist durch eine rezidivierende Nephrolithiasis und begleitende chronmische Diarrhoe gekennzeichnet. Uasgelöst werden könnte sie durch Mutationen des SLC26A6-Gens.

Gliederung

Hereditäre Urolithiasis
Cystinurie
Dicarboxyl-Aminoazidurie
Dihydroxyadenin-Urolithiasis
Nephrocalcinose
Nephrolithiasis-Diarrhoe-Syndrom
SLC26A6
Prädisposition zur Urolithiasis
Uratnephropathie

Referenzen:

1.

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

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2.

Kleta R et al. (2006) A key stone cop regulates oxalate homeostasis.

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3.

Sakhaee K et al. (2009) Recent advances in the pathophysiology of nephrolithiasis.

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4.

MCGEOWN MG et al. (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.

Ljunghall S et al. (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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