{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T12:02:26Z","timestamp":1790078546461,"version":"4.0.1"},"reference-count":23,"publisher":"The Endocrine Society","issue":"10","license":[{"start":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T00:00:00Z","timestamp":1788220800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","award":["MR\/V028723\/1"],"award-info":[{"award-number":["MR\/V028723\/1"]}],"id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","award":["MR\/Y007808\/1"],"award-info":[{"award-number":["MR\/Y007808\/1"]}],"id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100020643","name":"MRC","doi-asserted-by":"publisher","award":["MR\/V005898\/1"],"award-info":[{"award-number":["MR\/V005898\/1"]}],"id":[{"id":"10.13039\/501100020643","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100012357","name":"LifeArc","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100012357","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000291","name":"Kidney Research UK","doi-asserted-by":"publisher","award":["RP_007_20210729"],"award-info":[{"award-number":["RP_007_20210729"]}],"id":[{"id":"10.13039\/501100000291","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004185","name":"Northern Counties Kidney Research Fund","doi-asserted-by":"publisher","award":["20\/01"],"award-info":[{"award-number":["20\/01"]}],"id":[{"id":"10.13039\/501100004185","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,9,3]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Context<\/jats:title>\n                    <jats:p>Autosomal dominant hypocalcemia type 1 (ADH1) is a rare genetic disorder caused by activating CASR variants, characterized by hypocalcemia, low\/normal parathyroid hormone, and hypercalciuria. While managed with conservative calcium targets to prevent renal damage, the long-term systemic burden remains poorly defined.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>To describe a case series of adults with genetically confirmed AHD1.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We reviewed 9 adults with genetically confirmed ADH1 in North East England (2005-2024). Clinical, biochemical, and imaging data were retrospectively analyzed from electronic records. Pathogenic CASR variants were identified via accredited genomic panels.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The cohort (n = 9; 5 female; age 24-57) was 89% familial, with all exhibiting persistent hypocalcemia and 66% presenting with hypomagnesemia. Renal involvement affected 78%, including nephrocalcinosis (56%), nephrolithiasis (67%), and chronic kidney disease (CKD), with 2 patients from 1 kindred progressing to kidney failure (KF) and death. Extrarenal features included seizures, intracranial calcifications, dental abnormalities, and neuropsychiatric symptoms, often persisting despite conservative strategies to limit calcium supplementation post diagnosis. No clear correlation was found between mean serum calcium levels and disease severity, highlighting substantial phenotypic variability.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>ADH1 is a multisystem disorder with substantial morbidity, including nephrocalcinosis, CKD, and a risk of KF despite cautious management. Other significant features include hypocalcemic seizures and intracranial calcification. These findings emphasize the necessity of early genetic diagnosis, family screening, and longitudinal renal surveillance. The high complication burden under conventional therapy underscores the need for targeted treatments, such as CaSR antagonists (calcilytics), to improve long-term outcomes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1210\/jendso\/bvag205","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T10:39:54Z","timestamp":1788259194000},"source":"Crossref","is-referenced-by-count":0,"title":["Renal and systemic complications in autosomal dominant hypocalcemia type 1: a case series from North East England"],"prefix":"10.1210","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0007-4313-9773","authenticated-orcid":false,"given":"Deepika","family":"Manoharan","sequence":"first","affiliation":[{"name":"Faculty of Medical Sciences, Biosciences Institute, Newcastle University , Newcastle Upon Tyne, Tyne and Wear, NE1 3BZ ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Edwin K S","family":"Wong","sequence":"additional","affiliation":[{"name":"Renal Services, Newcastle Upon Tyne NHS Foundation Trust , Newcastle Upon Tyne, NE7 7DN ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6725-7570","authenticated-orcid":false,"given":"Holly","family":"Mabillard","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Biosciences Institute, Newcastle University , Newcastle Upon Tyne, Tyne and Wear, NE1 3BZ ,","place":["UK"]},{"name":"Renal Services, Newcastle Upon Tyne NHS Foundation Trust , Newcastle Upon Tyne, NE7 7DN ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shalabh","family":"Srivastava","sequence":"additional","affiliation":[{"name":"Renal Services, Newcastle Upon Tyne NHS Foundation Trust , Newcastle Upon Tyne, NE7 7DN ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon H S","family":"Pearce","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Translational and Clinical Medicine Institute, Newcastle University , Newcastle Upon Tyne, NE4 2HH ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1881-3782","authenticated-orcid":false,"given":"John A","family":"Sayer","sequence":"additional","affiliation":[{"name":"Faculty of Medical Sciences, Biosciences Institute, Newcastle University , Newcastle Upon Tyne, Tyne and Wear, NE1 3BZ ,","place":["UK"]},{"name":"Renal Services, Newcastle Upon Tyne NHS Foundation Trust , Newcastle Upon Tyne, NE7 7DN ,","place":["UK"]},{"name":"National Institute for Health Research, Newcastle Biomedical Research Centre , Newcastle Upon Tyne, NE4 5PL ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","published-online":{"date-parts":[[2026,9,1]]},"reference":[{"issue":"3","key":"2026092207121108500_bvag205-B1","doi-asserted-by":"crossref","first-page":"F485","DOI":"10.1152\/ajprenal.00608.2009","article-title":"Physiology and pathophysiology of the calcium-sensing receptor in the kidney","volume":"298","author":"Riccardi","year":"2010","journal-title":"Am J Physiol Renal Physiol"},{"key":"2026092207121108500_bvag205-B2","doi-asserted-by":"crossref","first-page":"458","DOI":"10.3389\/fphys.2016.00458","article-title":"Autosomal dominant hypocalcemia (hypoparathyroidism) types 1 and 2","volume":"7","author":"Roszko","year":"2016","journal-title":"Front Physiol"},{"issue":"5","key":"2026092207121108500_bvag205-B3","doi-asserted-by":"crossref","first-page":"F565","DOI":"10.1152\/ajprenal.00415.2025","article-title":"The many roles of the calcium-sensing receptor in the kidney","volume":"330","author":"Gutierrez-Gallardo","year":"2026","journal-title":"Am J Physiol Renal Physiol"},{"issue":"4","key":"2026092207121108500_bvag205-B4","doi-asserted-by":"crossref","first-page":"1013","DOI":"10.1073\/pnas.92.4.1013","article-title":"Vasopressin increases water permeability of kidney collecting duct by inducing translocation of aquaporin-CD water channels to plasma membrane","volume":"92","author":"Nielsen","year":"1995","journal-title":"Proc Natl Acad Sci U S A"},{"key":"2026092207121108500_bvag205-B5","unstructured":"Manoharan D, Wong EKS, Mabillard H, Srivastava S, Pearce SHS, Sayer JA. Supplementary Figure S1 - Role of calcium-sensing receptor (CaSR) and parathyroid hormone (PTH) in health vs. gain of function CASR mutations (ADH1). Figshare. 10.6084\/m9.figshare.32114815."},{"issue":"2","key":"2026092207121108500_bvag205-B6","doi-asserted-by":"crossref","first-page":"R1","DOI":"10.1530\/JME-19-0104","article-title":"Molecular and clinical insights from studies of calcium-sensing receptor mutations","volume":"63","author":"Gorvin","year":"2019","journal-title":"J Mol Endocrinol"},{"issue":"1","key":"2026092207121108500_bvag205-B7","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1186\/s13023-017-0570-z","article-title":"Diseases associated with calcium-sensing receptor","volume":"12","author":"Vahe","year":"2017","journal-title":"Orphanet J Rare Dis"},{"issue":"3","key":"2026092207121108500_bvag205-B8","doi-asserted-by":"crossref","first-page":"R127","DOI":"10.1530\/JME-16-0124","article-title":"Disorders of the calcium-sensing receptor and partner proteins: insights into the molecular basis of calcium homeostasis","volume":"57","author":"Hannan","year":"2016","journal-title":"J Mol 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