{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,14]],"date-time":"2026-02-14T04:00:08Z","timestamp":1771041608541,"version":"3.50.1"},"reference-count":48,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2024,4,25]],"date-time":"2024-04-25T00:00:00Z","timestamp":1714003200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Internal Medicine Journal"],"published-print":{"date-parts":[[2024,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Calcium\u2010sensing receptors (CaSRs) are G protein\u2010coupled receptors that help maintain Ca<jats:sup>2+<\/jats:sup> concentrations, modulating calciotropic hormone release (parathyroid hormone (PTH), calcitonin and 1,25\u2010dihydroxyvitamin D) by direct actions in the kidneys, gastrointestinal tract and bone. Variability in population calcium levels has been attributed to single nucleotide polymorphisms in CaSR genes, and several conditions affecting calcium and phosphate homeostasis have been attributed to gain\u2010 or loss\u2010of\u2010function mutations. An example is autosomal dominant hypercalciuric hypocalcaemia, because of a missense mutation at codon 128 of chromosome 3, as reported in our specific case and her family. As a consequence of treating symptomatic hypocalcaemia as a child, this female subject slowly developed progressive end\u2010stage kidney failure because of nephrocalcinosis and nephrolithiasis. After kidney transplantation, she remains asymptomatic, with decreased vitamin D and elemental calcium requirements, stable fluid and electrolyte homeostasis during intercurrent illnesses and has normalised urinary calcium and phosphate excretion, reducing the likelihood of hypercalciuria\u2010induced graft impairment. We review the actions of the CaSR, its role in regulating renal Ca<jats:sup>2+<\/jats:sup> homeostasis along with the impact of a proven gain\u2010of\u2010function mutation in the CaSR gene resulting in autosomal dominant hypercalciuric hypocalcaemia before and after kidney transplantation.<\/jats:p>","DOI":"10.1111\/imj.16403","type":"journal-article","created":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T06:59:20Z","timestamp":1714114760000},"page":"852-860","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Autosomal dominant hypercalciuric hypocalcaemia: the calcium\u2010sensing receptor in renal calcium homeostasis and the impact of renal transplantation"],"prefix":"10.1111","volume":"54","author":[{"given":"James A.","family":"Florance","sequence":"first","affiliation":[{"name":"Department of Nephrology Dunedin Hospital  Dunedin Otago New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John B. 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