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Genetics of hypercalciuric stone forming diseases.

Abstract：

:With a lifetime incidence of up to 12% in man and 6% in woman, nephrolithiasis is a major health problem worldwide. Approximately, 80% of kidney stones are composed of calcium and hypercalciuria is found in up to 40% of stone-formers. Although the mechanisms resulting in precipitation and growth of calcium crystals in the urinary tract are multiple and not fully understood, hypercalciuria per se is recognized as an important and reversible risk factor in stone formation. In this brief review, we summarize the studies assessing the heritability of hypercalciuria and pinpoint recently identified human genetic disorders as well as relevant animal models that provided new insights into the segment-specific tubular handling of calcium and the pathophysiology of renal hypercalciuria and kidney stones. We also discuss novel strategies that may help to unravel the genetic bases of such complex conditions.

journal_name

Kidney Int

journal_title

Kidney international

authors

Devuyst O,Pirson Y

doi

10.1038/sj.ki.5002441

subject

Has Abstract

pub_date

2007-11-01 00:00:00

pages

1065-72

issue

9

eissn

0085-2538

issn

1523-1755

pii

S0085-2538(15)52791-9

journal_volume

72

pub_type

杂志文章,评审

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