{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T18:38:47Z","timestamp":1773081527873,"version":"3.50.1"},"reference-count":114,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2007,12,13]],"date-time":"2007-12-13T00:00:00Z","timestamp":1197504000000},"content-version":"vor","delay-in-days":42,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of the New York Academy of Sciences"],"published-print":{"date-parts":[[2007,11]]},"abstract":"<jats:p><jats:bold><jats:sc>Abstract<\/jats:sc>:\u2002<\/jats:bold>  <jats:bold>Renal stone disease (nephrolithiasis) affects 5% of adults and is often associated with hypercalciuria. Hypercalciuric nephrolithiasis is a familial disorder in more than 35% of patients, and may occur as a monogenic disorder, or as a polygenic trait involving 3 to 5 susceptibility loci in man and rat, respectively. Studies of monogenic forms of hypercalciuric nephrolithiasis in man, for example, Bartter syndrome, Dent's disease, autosomal dominant hypocalcemic hypercalciuria (ADHH), hypercalciuric nephrolithiasis with hypophosphatemia, and familial hypomagnesemia with hypercalciuria have helped to identify a number of transporters, channels, and receptors that are involved in regulating the renal tubular reabsorption of calcium. Thus, Bartter syndrome, an autosomal recessive disease, is caused by mutations of the bumetanide\u2010sensitive Na\u2010K\u2010Cl (NKCC2) cotransporter, the renal outer\u2010medullary potassium channel (ROMK), the voltage\u2010gated chloride channel, CLC\u2010Kb, or in its \u03b2 subunit, Barttin. Dent's disease, an X\u2010linked disorder characterized by low molecular weight proteinuria, hypercalciuria, and nephrolithiasis, is due to mutations of the chloride\/proton antiporter, CLC\u20105; ADHH is associated with activating mutations of the calcium\u2010sensing receptor, which is a G protein\u2010coupled receptor; hypophosphatemic hypercalciuric nephrolithiasis associated with rickets is due to mutations in the type 2c sodium\u2013phosphate cotransporter (NPT2c); and familial hypomagnesemia with hypercalciuria is due to mutations of paracellin\u20101, which is a member of the claudin family of membrane proteins that form the intercellular tight junction barrier in a variety of epithelia. These studies have provided valuable insights into the renal tubular pathways that regulate calcium reabsorption and predispose to kidney stones and bone disease.<\/jats:bold> <\/jats:p>","DOI":"10.1196\/annals.1402.030","type":"journal-article","created":{"date-parts":[[2007,12,14]],"date-time":"2007-12-14T19:53:17Z","timestamp":1197661997000},"page":"461-484","source":"Crossref","is-referenced-by-count":53,"title":["Genetics of Hypercalciuric Nephrolithiasis"],"prefix":"10.1111","volume":"1116","author":[{"given":"MICHAEL J.","family":"STECHMAN","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"NELLIE Y.","family":"LOH","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"RAJESH V.","family":"THAKKER","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,12,13]]},"reference":[{"key":"e_1_2_14_2_2","doi-asserted-by":"publisher","DOI":"10.1097\/01.ASN.0000062960.26868.17"},{"key":"e_1_2_14_3_2","first-page":"381","article-title":"Nephrolithiasis","volume":"19","author":"Scheinman S.J.","year":"1999","journal-title":"Semin. 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