Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature ... Kleta (2006) reviewed aspects of renal stone disease. Nephrolithiasis and urolithiasis remain major public health problems of largely unknown cause. While disorders such as cystinuria (220100) and primary hyperoxaluria (see 259900) that have nephrolithiasis as a major feature have advanced understanding of the metabolic and physiologic processes of stone formation in general, they have not addressed the etiology of calcium oxalate stone formation, responsible for approximately 75% of urolithiasis cases in humans. Men are affected twice as often as women, but children show no such gender bias. The recurrence rate is also high. In populations of European ancestry, 5 to 10% of adults experience the painful precipitation of calcium oxalate in their urinary tracts. Thorleifsson et al. (2009) noted that between 35 and 65% of hypercalciuric stone formers and up to 70% of subjects with hypercalciuria have relatives with nephrolithiasis, and twin studies have estimated the heritability of kidney stones to be 56%.
Oxalate is a major component of two-thirds of all kidney stones. Small changes in the urinary concentration of oxalate have a critical influence on calcium oxalate stone formation. Abnormally high urinary excretion and intestinal absorption of oxalate has ... Oxalate is a major component of two-thirds of all kidney stones. Small changes in the urinary concentration of oxalate have a critical influence on calcium oxalate stone formation. Abnormally high urinary excretion and intestinal absorption of oxalate has been found in cases of 'idiopathic' calcium oxalate nephrolithiasis (Hodgkinson, 1978; Robertson and Peacock, 1980; Marangella et al., 1982). The family history is usually positive in cases of calcium oxalate urolithiasis (McGeown, 1960; Ljunghall, 1979). Gram (1932) described an extensive pedigree of oxalate urolithiasis in 5 generations. Urinary oxalate concentrations were not reported. Several presumed carrier females did not have calculi. Fifteen males (and no females) in 10 sibships were affected. The systematic genetic study of calcium oxalate renal calculi done by Resnick et al. (1968) led to the conclusion that monogenic inheritance could be excluded; the findings were considered compatible with the hypothesis that the tendency to form calcium oxalate renal stones is regulated by a polygenic system, with less risk for females than males. Baggio et al. (1984, 1986) found that transmembrane oxalate flux in red cells of patients with idiopathic calcium oxalate nephrolithiasis is faster than in subjects without stones; that the anomaly of oxalate transport is inherited as an autosomal dominant trait with complete penetrance; and that the 'defect' can be corrected by diuretic agents (e.g., hydrochlorothiazide or amiloride). Use of hydrochlorothiazide to prevent recurrence of renal stones was first suggested by Yendt and Cohanim (1978) because of its hypocalciuric action. Cousin and Motais (1976) showed that oxalate exchange is drastically reduced by furosemide, and to a lesser extent by hydrochlorothiazide. Hyperoxaluria occurs with various forms of intestinal disease as an abnormality in absorption of dietary oxalate (Smith and Hofmann, 1974).