Genetic Hypercalciuria

Disease of the Month Genetic Hypercalciuria

Hypercalciuria is an important, identifiable, and reversible risk factor in stone formation. The foremost and most fundamental step in dissecting the genetics of hypercalciuria is understanding its pathophysiology. Hypercalciuria is a complex trait. This article outlines the various factors that compromise the attempt to dissect the genetics of hypercalciuria, summarizes the clinical and experi...

Hypercalciuria.

Flocks (1939) first noted an association between renal stone disease and increased calcium excretion in the urine, but it was not until 1953 that Albright, Henneman, Benedict & Forbes coined the term ‘idiopathic hypercalciuria’ to describe the disorder, suggested that it might be tubular in origin, and drew attention to the hypophosphataemia which frequently accompanies it. A few years later He...

Pathogenesis of primary hypercalciuria

Hypercalciuria may be classified into absorptive, renal and resorptive forms, depending on whether the primary defect is intestinal hyperabsorption of calcium, renal leak of calcium, or excessive bone resorption. In absorptive hypercalciuria, the pathogenetic role of vitamin D is uncertain, and mutations in the chloride channel may occur mainly in association with Dent’s disease. Early studies ...

Pathophysiology of hypercalciuria.

WORCESTER ET AL. (1) ARE TO be praised for their recent contribution to an understanding of the pathophysiology of hypercalciuria. However, we would like to call their attention to potential pitfalls in their interpretation of three of their data. 1) They state that the overlap between normal subjects (N) and idiopathic hypercalciuria calcium stone formers (IHSF) is minimal with respect to frac...

Renal hypomagnesemia, hypercalciuria, nephrocalcinosis