{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,25]],"date-time":"2026-07-25T19:30:33Z","timestamp":1785007833842,"version":"3.55.0"},"reference-count":26,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T00:00:00Z","timestamp":1777507200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"French Ministry of Health"},{"name":"French OSCAR network"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>Autosomal dominant hypocalcemia type 1 (ADH1) results from activating CASR variants, causing parathyroid hormone (PTH) suppression and abnormal renal calcium handling. Management is challenging, as hypoparathyroidism is associated with inappropriate renal calcium wasting, leading to hypercalciuria, nephrocalcinosis, and renal impairment. We evaluated long-term outcomes of continuous subcutaneous PTH(1\u201334) infusion (CSPI) in children with ADH1 refractory to standard of care therapy (SOC).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Design<\/jats:title>\n                    <jats:p>Single-center observational study.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Five children with genetically confirmed ADH1 were treated with CSPI between 2012 and 2017 and followed for up to 11 years. Clinical outcomes, biochemical parameters, and renal findings were assessed under SOC and CSPI. Serum calcium, phosphate (standard deviation score, SDS), magnesium, alkaline phosphatase, eGFR, urinary calcium\/creatinine ratio (relative to the age-specific 95th percentile), and fractional calcium excretion (FECa) were analyzed using linear mixed-effects models.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Hypocalcemic seizures and emergency visits decreased, growth was appropriate, and no treatment-related adverse events occurred over a median 7-year follow-up. CSPI was associated with higher serum calcium (P &amp;lt; .001) and lower serum phosphate (P &amp;lt; .001). Urinary calcium\/creatinine ratios, expressed relative to the age-specific 95th percentile, were lower under CSPI (P &amp;lt; .001). FECa was approximately 8% lower under CSPI (P = .014), suggesting improved renal calcium handling. Renal function remained stable despite progression of nephrocalcinosis in 4\/5 patients.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>SPI appears to be a safe and effective long-term treatment in pediatric ADH1, improving mineral homeostasis and renal calcium handling. Prospective multicenter studies are needed to assess long-term skeletal outcomes and optimize dosing strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ejendo\/lvag089","type":"journal-article","created":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T11:34:07Z","timestamp":1779190447000},"page":"715-723","source":"Crossref","is-referenced-by-count":1,"title":["Continuous subcutaneous recombinant PTH(1-34) infusion improves serum calcium and phosphate homeostasis in children with autosomal dominant hypocalcemia type 1 refractory to standard-of-care treatment"],"prefix":"10.1093","volume":"194","author":[{"given":"Audrey","family":"Vincent","sequence":"first","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Service D\u2019Endocrinologie et Diab\u00e8te de L\u2019Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, H\u00f4pital Bic\u00eatre Paris Saclay , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1994-4226","authenticated-orcid":false,"given":"Peter","family":"Kamenick\u00fd","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service D\u2019Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jugurtha","family":"Berkenou","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Service D\u2019Endocrinologie et Diab\u00e8te de L\u2019Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, H\u00f4pital Bic\u00eatre Paris Saclay , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fanny","family":"Chasseloup","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, H\u00f4pital Bic\u00eatre, Service D\u2019Endocrinologie et des Maladies de la Reproduction, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6332-4243","authenticated-orcid":false,"given":"R\u00e9gis","family":"Coutant","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Diabetology, Angers University Hospital , Angers 49100 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4328-6304","authenticated-orcid":false,"given":"Wolfgang","family":"H\u00f6gler","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Linz, Austria Centre for Growth and Osteology, Kepler University Hospital , Linz 4020 ,","place":["Austria"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9404-0975","authenticated-orcid":false,"given":"Diana-Alexandra","family":"Ertl","sequence":"additional","affiliation":[{"name":"Assistance Publique-H\u00f4pitaux de Paris, Service D\u2019Endocrinologie et Diab\u00e8te de L\u2019Enfant, Centre de R\u00e9f\u00e9rence des Maladies Rares du M\u00e9tabolisme du Calcium et du Phosphate, H\u00f4pital Bic\u00eatre Paris Saclay , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]},{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6432-1098","authenticated-orcid":false,"given":"Abd El Kader","family":"Ait Tayeb","sequence":"additional","affiliation":[{"name":"Universit\u00e9 Paris-Saclay, Inserm, Physiologie et Physiopathologie Endocriniennes , Le Kremlin-Bic\u00eatre 94275 ,","place":["France"]},{"name":"AP-HP, Universit\u00e9 Paris-Saclay, Centre de Recherche Clinique Paris-Saclay, H\u00f4pital Bic\u00eatre , Le Kremlin Bic\u00eatre 94275 ,","place":["France"]},{"name":"AP-HP, Universit\u00e9 Paris-Saclay, Service de M\u00e9decine G\u00e9nomique et Pharmacog\u00e9nomique, H\u00f4pital Bic\u00eatre , Le Kremlin Bic\u00eatre 94275 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