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Inherited or de novo activating variants of the CASR alter the set point for extracellular calcium, resulting in inadequate parathyroid hormone (PTH) secretion and inappropriate renal calcium excretion leading to hypocalcemia and hypercalciuria. Conventional therapy includes calcium and activated vitamin D, which can worsen hypercalciuria, resulting in renal complications. A systematic literature review, using published reports from 1994 to 2021, was conducted to catalog CASR variants, to define the ADH1 clinical spectrum, and to determine the effect of treatment on patients with ADH1. There were 113 unique CASR variants reported, with a general lack of genotype\/phenotype correlation. Clinical data were available in 191 patients; 27% lacked symptoms, 32% had mild\/moderate symptoms, and 41% had severe symptoms. Seizures, the most frequent clinical presentation, occurred in 39% of patients. In patients with blood and urine chemistries available at the time of diagnosis (n\u00a0=\u200991), hypocalcemia (99%), hyperphosphatemia (59%), low PTH levels (57%), and hypercalciuria (34%) were observed. Blood calcium levels were significantly lower in patients with severe symptoms compared with asymptomatic patients (6.8\u00a0\u00b1\u20090.7 versus 7.6\u00a0\u00b1\u20090.7\u00a0mg\/dL [mean\u2009\u00b1\u2009SD]; p\u00a0&amp;lt;\u20090.0001), and the age of presentation was significantly lower in severely symptomatic patients (9.1\u00a0\u00b1\u200915.0 versus 19.3\u00a0\u00b1\u200919.4\u2009years; p\u00a0&amp;lt;\u20090.01). Assessments for complications including nephrocalcinosis, nephrolithiasis, renal impairment, and brain calcifications in 57 patients on conventional therapy showed that 75% had at least one complication. Hypercalciuria was associated with nephrocalcinosis, nephrolithiasis, renal impairment, or brain calcifications (odds ratio [OR]\u00a0=\u00a09.3; 95% confidence interval [CI]\u00a02.4\u201337.2; p\u00a0&amp;lt;\u20090.01). In 27 patients with urine calcium measures before and after starting conventional therapy, the incidence of hypercalciuria increased by 91% (p\u00a0&amp;lt;\u20090.05) after therapy initiation. ADH1 is a condition often associated with severe symptomatology at presentation with an increase in the risk of renal complications after initiation of conventional therapy. \u00a9 2022 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR).<\/jats:p>","DOI":"10.1002\/jbmr.4659","type":"journal-article","created":{"date-parts":[[2022,7,25]],"date-time":"2022-07-25T23:59:19Z","timestamp":1658793559000},"page":"1926-1935","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":55,"title":["Autosomal Dominant Hypocalcemia Type 1: A Systematic Review"],"prefix":"10.1093","volume":"37","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0284-5299","authenticated-orcid":false,"given":"Kelly L","family":"Roszko","sequence":"first","affiliation":[{"name":"Skeletal Disorders & Mineral Homeostasis Section NIDCR, NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lyndsay M","family":"Stapleton Smith","sequence":"additional","affiliation":[{"name":"Calcilytix Therapeutics, Inc. San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ananth V","family":"Sridhar","sequence":"additional","affiliation":[{"name":"Calcilytix Therapeutics, Inc. San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Scott","family":"Roberts","sequence":"additional","affiliation":[{"name":"Calcilytix Therapeutics, Inc. San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1029-3284","authenticated-orcid":false,"given":"Iris R","family":"Hartley","sequence":"additional","affiliation":[{"name":"Skeletal Disorders & Mineral Homeostasis Section NIDCR, NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7970-3491","authenticated-orcid":false,"given":"Rachel I","family":"Gafni","sequence":"additional","affiliation":[{"name":"Skeletal Disorders & Mineral Homeostasis Section NIDCR, NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3676-7644","authenticated-orcid":false,"given":"Michael T","family":"Collins","sequence":"additional","affiliation":[{"name":"Skeletal Disorders & Mineral Homeostasis Section NIDCR, NIH Bethesda MD USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan C","family":"Fox","sequence":"additional","affiliation":[{"name":"Calcilytix Therapeutics, Inc. San Francisco CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9007-6839","authenticated-orcid":false,"given":"Edward F","family":"Nemeth","sequence":"additional","affiliation":[{"name":"MetisMedica Toronto Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2022,7,25]]},"reference":[{"issue":"6","key":"2024012714055683300_jbmr4659-bib-0001","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1136\/jmg.18.6.431","article-title":"Autosomal dominant hypoparathyroidism: a proband with concurrent nephrogenic diabetes insipidus","volume":"18","author":"Hunter","year":"1981","journal-title":"J Med Genet."},{"issue":"3","key":"2024012714055683300_jbmr4659-bib-0002","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1038\/ng1194-303","article-title":"Autosomal dominant hypocalcaemia caused by a Ca2+-sensing receptor gene mutation","volume":"8","author":"Pollak","year":"1994","journal-title":"Nat Genet."},{"issue":"15","key":"2024012714055683300_jbmr4659-bib-0003","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1056\/NEJM199610103351505","article-title":"A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor","volume":"335","author":"Pearce","year":"1996","journal-title":"N Engl J Med"},{"issue":"5","key":"2024012714055683300_jbmr4659-bib-0004","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1093\/hmg\/5.5.601","article-title":"Mutations in the Ca2+-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism","volume":"5","author":"Baron","year":"1996","journal-title":"Hum Mol Genet."},{"issue":"11","key":"2024012714055683300_jbmr4659-bib-0005","doi-asserted-by":"crossref","first-page":"5313","DOI":"10.1210\/jcem.86.11.8016","article-title":"Activating mutations of the calcium-sensing receptor: management of hypocalcemia","volume":"86","author":"Lienhardt","year":"2001","journal-title":"J Clin Endocrinol Metab."},{"issue":"Pt 6","key":"2024012714055683300_jbmr4659-bib-0006","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1258\/0004563042466802","article-title":"Clinical and laboratory features of calcium-sensing receptor disorders: a systematic review","volume":"41","author":"Gunn","year":"2004","journal-title":"Ann Clin Biochem."},{"issue":"6","key":"2024012714055683300_jbmr4659-bib-0007","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.ajhg.2020.04.006","article-title":"Familial hypocalciuric hypercalcemia type 1 and autosomal-dominant hypocalcemia type 1: prevalence in a large healthcare population","volume":"106","author":"Dershem","year":"2020","journal-title":"Am J Hum Genet."},{"issue":"3","key":"2024012714055683300_jbmr4659-bib-0008","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1172\/JCI117062","article-title":"Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. 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