Klinik: 

Definition: 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.

Literatur: 

Baggio B et al. (1986) An inheritable anomaly of red-cell oxalate transport in "primary" calcium nephrolithiasis correctable with diuretics.
Cousin JL et al. (1976) The role of carbonic anhydrase inhibitors on anion permeability into ox red blood cells.
Jiang Z et al. (2006) Calcium oxalate urolithiasis in mice lacking anion transporter Slc26a6.
Kleta R et al. (2006) A key stone cop regulates oxalate homeostasis.
Ljunghall S et al. (1979) Family history of renal stones in a population study of stone-formers and health subjects.
Marangella M et al. (1982) Hyperoxaluria in idiopathic calcium stone disease: further evidence of intestinal hyperabsorption of oxalate.
MCGEOWN MG et al. (1960) Heredity in renal stone disease.
Resnick M et al. (1968) Genetic predisposition to formation of calcium oxalate renal calculi.
Robertson WG et al. (1980) The cause of idiopathic calcium stone disease: hypercalciuria or hyperoxaluria?
SHEPARD TH et al. (1960) Primary hyperoxaluria. II. Genetic studies in a family.
Smith LH et al. (1974) Acquired hyperoxaluria, urolithiasis, and intestinal disease: a new digestive disorder?
Suzuki Y et al. (2008) Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.
Thorleifsson G et al. (2009) Sequence variants in the CLDN14 gene associate with kidney stones and bone mineral density.
Yendt ER et al. (1978) Prevention of calcium stones with thiazides.
Sakhaee K et al. (2009) Recent advances in the pathophysiology of nephrolithiasis.