{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:46:35Z","timestamp":1792125995307,"version":"4.4.0"},"reference-count":60,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T00:00:00Z","timestamp":1784246400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T00:00:00Z","timestamp":1792108800000},"content-version":"vor","delay-in-days":91,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100009243","name":"Direction G\u00e9n\u00e9rale de l\u2019offre de Soins","doi-asserted-by":"publisher","award":["Direction G\u00e9n\u00e9rale de l\u2019offre de Soins"],"award-info":[{"award-number":["Direction G\u00e9n\u00e9rale de l\u2019offre de Soins"]}],"id":[{"id":"10.13039\/501100009243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Orphanet J Rare Dis"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    The objective of this study was to establish a French National Diagnosis and Care Protocol (PNDS: Protocole National de Diagnostic et de Soins), with the aim of providing health professionals with free, open access synthesis on optimal management and care of patients with Infantile Idiopathic Hypercalcemia (IIH) (\n                    <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"https:\/\/www.has-sante.fr\/jcms\/p_3522489\/fr\/hypercalcemie-infantile-idiopathique-hii\" ext-link-type=\"uri\">https:\/\/www.has-sante.fr\/jcms\/p_3522489\/fr\/hypercalcemie-infantile-idiopathique-hii<\/jats:ext-link>\n                    ). The process involved a critical review of the literature and a multidisciplinary expert consensus. IIH is a rare genetic disorder, with a prevalence estimated at 1 in 33,000. Its clinical manifestations (such as urinary stones or nephrocalcinosis) can appear at different ages. The pathophysiology of IHH is characterized by excessive 1,25(OH)2 vitamin D mediated dietary digestive calcium absorption. The underlying mechanism varies depending on the pathogenic variant involved, which is located in one of two genes,\n                    <jats:italic>CYP24A1<\/jats:italic>\n                    or\n                    <jats:italic>SLC34A1<\/jats:italic>\n                    . The natural history and pathophysiology of IHH remain poorly understood and are underreported in the literature. Management of the disease varies according to the presentation and severity of hypercalcemia. Non-specific management strategies encompass the cessation of calcium intake, the discontinuation of native vitamin D supplementation, hyperhydration, and the occasional utilization of bisphosphonates. The necessity for long-term treatment, which may encompass both non-specific measures and specific interventions, depends on the severity and the genetic variant identified. Long-term follow-up appears essential, although there is limited data available, particularly for detecting complications of the disease, with nephrocalcinosis being the primary one.\n                  <\/jats:p>","DOI":"10.1186\/s13023-026-04483-3","type":"journal-article","created":{"date-parts":[[2026,7,17]],"date-time":"2026-07-17T11:54:55Z","timestamp":1784289295000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["French national diagnosis and care protocol (PNDS) for infantile idiopathic hypercalcemia (IIH)"],"prefix":"10.1186","volume":"21","author":[{"given":"Cyril","family":"Amouroux","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Porquet-Bordes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elodie","family":"Adler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoan Le","family":"Goff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Justine","family":"Bacchetta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Philippe","family":"Bertocchio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gilles","family":"Cambonie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Courbebaisse","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Odile","family":"Dicky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Edouard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Girerd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Guigonis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fairouz","family":"Halitim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pascal","family":"Houiller","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Agn\u00e8s","family":"Linglart","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emeline","family":"Marquant","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Denis","family":"Morin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Pierre","family":"Salles","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9246-5160","authenticated-orcid":false,"given":"Anya","family":"Rothenbuhler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,7,17]]},"reference":[{"issue":"6779","key":"4483_CR1","doi-asserted-by":"crossref","first-page":"255","DOI":"10.1016\/S0140-6736(53)90187-1","volume":"265","author":"R Lightwood","year":"1953","unstructured":"Lightwood R, Stapleton T. Idiopathic hypercalcaemia in infants. Lancet 1 ao\u00fbt. 1953;265(6779):255\u20136.","journal-title":"Lancet 1 ao\u00fbt"},{"issue":"6929","key":"4483_CR2","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/S0140-6736(56)91518-5","volume":"270","author":"HG Morgan","year":"1956","unstructured":"Morgan HG, Mitchell RG, Stowers JM, Thomson J. Metabolic studies on two infants with idiopathic hypercalcaemia. Lancet 16 juin. 1956;270(6929):925\u201331.","journal-title":"Lancet 16 juin"},{"issue":"8","key":"4483_CR3","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1007\/s004670050678","volume":"13","author":"SJ McTaggart","year":"1999","unstructured":"McTaggart SJ, Craig J, MacMillan J, Burke JR. Familial occurrence of idiopathic infantile hypercalcemia. Pediatr Nephrol oct. 1999;13(8):668\u201371.","journal-title":"Pediatr Nephrol oct"},{"key":"4483_CR4","doi-asserted-by":"crossref","unstructured":"Schlingmann KP, Kaufmann M, Weber S, Irwin A, Goos C, John U, et al. Mutations in CYP24A1 and idiopathic infantile hypercalcemia. N Engl J Med. 2011;365(5):410\u201321.","DOI":"10.1056\/NEJMoa1103864"},{"issue":"2","key":"4483_CR5","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1681\/ASN.2014101025","volume":"27","author":"KP Schlingmann","year":"2016","unstructured":"Schlingmann KP, Ruminska J, Kaufmann M, Dursun I, Patti M, Kranz B, et al. Autosomal-Recessive Mutations in SLC34A1 Encoding Sodium-Phosphate Cotransporter 2A Cause Idiopathic Infantile Hypercalcemia. J Am Soc Nephrol f\u00e9vr. 2016;27(2):604\u201314.","journal-title":"J Am Soc Nephrol f\u00e9vr"},{"issue":"3","key":"4483_CR6","doi-asserted-by":"crossref","first-page":"636","DOI":"10.1093\/ndt\/gft460","volume":"29","author":"G Colussi","year":"2014","unstructured":"Colussi G, Ganon L, Penco S, De Ferrari ME, Ravera F, Querques M, et al. Chronic hypercalcaemia from inactivating mutations of vitamin D 24-hydroxylase (CYP24A1): implications for mineral metabolism changes in chronic renal failure. Nephrol Dial Transplant. 2014;29(3):636\u201343.","journal-title":"Nephrol Dial Transpl mars"},{"issue":"1","key":"4483_CR7","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1016\/j.abb.2011.11.003","volume":"523","author":"G Jones","year":"2012","unstructured":"Jones G, Prosser DE, Kaufmann M. 25-Hydroxyvitamin D-24-hydroxylase (CYP24A1): its important role in the degradation of vitamin D. Arch Biochem Biophys 1 juill. 2012;523(1):9\u201318.","journal-title":"Arch Biochem Biophys 1 juill"},{"key":"4483_CR8","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/j.bonr.2018.06.005","volume":"9","author":"KP Schlingmann","year":"2018","unstructured":"Schlingmann KP, Cassar W, Konrad M. Juvenile onset IIH and CYP24A1 mutations. Bone Rep d\u00e9c. 2018;9:42\u20136.","journal-title":"Bone Rep d\u00e9c"},{"issue":"1","key":"4483_CR9","doi-asserted-by":"crossref","first-page":"64","DOI":"10.6065\/apem.2019.24.1.64","volume":"24","author":"SJ Kang","year":"2019","unstructured":"Kang SJ, Lee R, Kim HS. Infantile hypercalcemia with novel compound heterozygous mutation in SLC34A1 encoding renal sodium-phosphate cotransporter 2a: a case report. Ann Pediatr Endocrinol Metab mars. 2019;24(1):64\u20137.","journal-title":"Ann Pediatr Endocrinol Metab mars"},{"issue":"2","key":"4483_CR10","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1093\/ckj\/sft008","volume":"6","author":"E Meusburger","year":"2013","unstructured":"Meusburger E, M\u00fcndlein A, Zitt E, Obermayer-Pietsch B, Kotzot D, Lhotta K. Medullary nephrocalcinosis in an adult patient with idiopathic infantile hypercalcaemia and a novel CYP24A1 mutation. Clin Kidney J avr. 2013;6(2):211\u20135.","journal-title":"Clin Kidney J avr"},{"issue":"2","key":"4483_CR11","doi-asserted-by":"crossref","first-page":"552","DOI":"10.1016\/j.juro.2013.02.3188","volume":"190","author":"D Dinour","year":"2013","unstructured":"Dinour D, Beckerman P, Ganon L, Tordjman K, Eisenstein Z, Holtzman EJ. Loss-of-function mutations of CYP24A1, the vitamin D 24-hydroxylase gene, cause long-standing hypercalciuric nephrolithiasis and nephrocalcinosis. J Urol ao\u00fbt. 2013;190(2):552\u20137.","journal-title":"J Urol ao\u00fbt"},{"issue":"4","key":"4483_CR12","doi-asserted-by":"crossref","first-page":"649","DOI":"10.2215\/CJN.05360512","volume":"8","author":"G Nesterova","year":"2013","unstructured":"Nesterova G, Malicdan MC, Yasuda K, Sakaki T, Vilboux T, Ciccone C, et al. 1,25-(OH)2D-24 Hydroxylase (CYP24A1) Deficiency as a Cause of Nephrolithiasis. Clin J Am Soc Nephrol avr. 2013;8(4):649\u201357.","journal-title":"Clin J Am Soc Nephrol avr"},{"issue":"12","key":"4483_CR13","doi-asserted-by":"crossref","first-page":"1164","DOI":"10.1136\/adc.61.12.1164","volume":"61","author":"O Udwin","year":"1986","unstructured":"Udwin O, Yule W, Martin ND. Age at diagnosis and abilities in idiopathic hypercalcaemia. Arch Dis Child d\u00e9c. 1986;61(12):1164\u20137.","journal-title":"Arch Dis Child d\u00e9c"},{"issue":"2","key":"4483_CR14","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1111\/j.1469-7610.1987.tb00212.x","volume":"28","author":"O Udwin","year":"1987","unstructured":"Udwin O, Yule W, Martin N. Cognitive abilities and behavioural characteristics of children with idiopathic infantile hypercalcaemia. J Child Psychol Psychiatry mars. 1987;28(2):297\u2013309.","journal-title":"J Child Psychol Psychiatry mars"},{"issue":"1","key":"4483_CR15","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1007\/s00467-014-2889-1","volume":"30","author":"D Dinour","year":"2015","unstructured":"Dinour D, Davidovits M, Aviner S, Ganon L, Michael L, Modan-Moses D, et al. Maternal and infantile hypercalcemia caused by vitamin-D-hydroxylase mutations and vitamin D intake. Pediatr Nephrol janv. 2015;30(1):145\u201352.","journal-title":"Pediatr Nephrol janv"},{"issue":"4","key":"4483_CR16","doi-asserted-by":"crossref","first-page":"278","DOI":"10.1159\/000492899","volume":"91","author":"E Kurnaz","year":"2019","unstructured":"Kurnaz E, Sava\u015f Erdeve \u015e, \u00c7etinkaya S, Aycan Z. Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene. Horm Res Paediatr. 2019;91(4):278\u201384.","journal-title":"Horm Res Paediatr"},{"issue":"2","key":"4483_CR17","doi-asserted-by":"crossref","first-page":"E268","DOI":"10.1210\/jc.2011-1972","volume":"97","author":"A Dauber","year":"2012","unstructured":"Dauber A, Nguyen TT, Sochett E, Cole DEC, Horst R, Abrams SA, et al. Genetic defect in CYP24A1, the vitamin D 24-hydroxylase gene, in a patient with severe infantile hypercalcemia. J Clin Endocrinol Metab f\u00e9vr. 2012;97(2):E268\u2013274.","journal-title":"J Clin Endocrinol Metab f\u00e9vr"},{"issue":"10","key":"4483_CR18","doi-asserted-by":"crossref","first-page":"E1343","DOI":"10.1210\/jc.2014-4387","volume":"100","author":"A Molin","year":"2015","unstructured":"Molin A, Baudoin R, Kaufmann M, Souberbielle JC, Ryckewaert A, Vantyghem MC, et al. CYP24A1 Mutations in a Cohort of Hypercalcemic Patients: Evidence for a Recessive Trait. J Clin Endocrinol Metab oct. 2015;100(10):E1343\u20131352.","journal-title":"J Clin Endocrinol Metab oct"},{"key":"4483_CR19","doi-asserted-by":"crossref","first-page":"105824","DOI":"10.1016\/j.jsbmb.2021.105824","volume":"208","author":"E Kowalska","year":"2021","unstructured":"Kowalska E, Rola R, W\u00f3jcik M, \u0141aszcz N, P\u0142udowski P, Wierzbicka A, et al. Analysis of vitamin D3 metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation. J Steroid Biochem Mol Biol avr. 2021;208:105824.","journal-title":"J Steroid Biochem Mol Biol avr"},{"issue":"9","key":"4483_CR20","doi-asserted-by":"crossref","first-page":"1393","DOI":"10.1373\/clinchem.2013.204222","volume":"59","author":"D Bailey","year":"2013","unstructured":"Bailey D, Colantonio D, Kyriakopoulou L, Cohen AH, Chan MK, Armbruster D, et al. Marked biological variance in endocrine and biochemical markers in childhood: establishment of pediatric reference intervals using healthy community children from the CALIPER cohort. Clin Chem sept. 2013;59(9):1393\u2013405.","journal-title":"Clin Chem sept"},{"issue":"12","key":"4483_CR21","doi-asserted-by":"crossref","first-page":"E1946","DOI":"10.1210\/jc.2013-3105","volume":"98","author":"JD Roizen","year":"2013","unstructured":"Roizen JD, Shah V, Levine MA, Carlow DC. Determination of reference intervals for serum total calcium in the vitamin D-replete pediatric population. J Clin Endocrinol Metab d\u00e9c. 2013;98(12):E1946\u20131950.","journal-title":"J Clin Endocrinol Metab d\u00e9c"},{"issue":"2","key":"4483_CR22","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1016\/S0022-3476(97)70161-6","volume":"131","author":"GL Klein","year":"1997","unstructured":"Klein GL, Nicolai M, Langman CB, Cuneo BF, Sailer DE, Herndon DN. Dysregulation of calcium homeostasis after severe burn injury in children: Possible role of magnesium depletion. J Pediatr 1 ao\u00fbt. 1997;131(2):246\u201351.","journal-title":"J Pediatr 1 ao\u00fbt"},{"issue":"10","key":"4483_CR23","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1515\/jpem-2020-0169","volume":"33","author":"A G\u00fcven","year":"2020","unstructured":"G\u00fcven A, Konrad M, Schlingmann KP. Idiopathic infantile hypercalcemia: mutations in SLC34A1 and CYP24A1 in two siblings and fathers. J Pediatr Endocrinol Metab 31 ao\u00fbt. 2020;33(10):1353\u20138.","journal-title":"J Pediatr Endocrinol Metab 31 ao\u00fbt"},{"issue":"10","key":"4483_CR24","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1210\/clinem\/dgab431","volume":"106","author":"N Lenherr-Taube","year":"2021","unstructured":"Lenherr-Taube N, Young EJ, Furman M, Elia Y, Assor E, Chitayat D, et al. Mild Idiopathic Infantile Hypercalcemia-Part 1: Biochemical and Genetic Findings. J Clin Endocrinol Metab 27 sept. 2021;106(10):2915\u201337.","journal-title":"J Clin Endocrinol Metab 27 sept"},{"key":"4483_CR25","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1016\/j.bone.2015.06.018","volume":"81","author":"M Cools","year":"2015","unstructured":"Cools M, Goemaere S, Baetens D, Raes A, Desloovere A, Kaufman JM, et al. Calcium and bone homeostasis in heterozygous carriers of CYP24A1 mutations: A cross-sectional study. Bone d\u00e9c. 2015;81:89\u201396.","journal-title":"Bone d\u00e9c"},{"issue":"12","key":"4483_CR26","doi-asserted-by":"crossref","first-page":"104100","DOI":"10.1016\/j.ejmg.2020.104100","volume":"63","author":"AM Mirea","year":"2020","unstructured":"Mirea AM, Pop RM, C\u0103inap SS, Trifa AP. Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report. Eur J Med Genet d\u00e9c. 2020;63(12):104100.","journal-title":"Eur J Med Genet d\u00e9c"},{"issue":"4","key":"4483_CR27","doi-asserted-by":"crossref","first-page":"e129","DOI":"10.1016\/j.amjmed.2016.10.025","volume":"130","author":"MA Gorris","year":"2017","unstructured":"Gorris MA, Arora H, Lieb DC, Aloi JA. A Word of Caution When Prescribing High-Dose Vitamin D. Am J Med avr. 2017;130(4):e129\u201330.","journal-title":"Am J Med avr"},{"issue":"2","key":"4483_CR28","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1007\/s00228-011-1113-5","volume":"68","author":"G Moulis","year":"2012","unstructured":"Moulis G, Batz A, Durrieu G, Viard C, Decramer S, Montastruc JL. Severe neonatal hypercalcemia related to maternal exposure to nutritional supplement containing Spirulina. Eur J Clin Pharmacol f\u00e9vr. 2012;68(2):221\u20132.","journal-title":"Eur J Clin Pharmacol f\u00e9vr"},{"issue":"6","key":"4483_CR29","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1007\/s004670050654","volume":"13","author":"C Rodd","year":"1999","unstructured":"Rodd C, Goodyer P. Hypercalcemia of the newborn: etiology, evaluation, and management. Pediatr Nephrol ao\u00fbt. 1999;13(6):542\u20137.","journal-title":"Pediatr Nephrol ao\u00fbt"},{"key":"4483_CR30","doi-asserted-by":"crossref","unstructured":"Pober BR. Williams-Beuren syndrome. N Engl J Med. 2010;362(3):239\u201352.","DOI":"10.1056\/NEJMra0903074"},{"issue":"1","key":"4483_CR31","doi-asserted-by":"crossref","first-page":"15","DOI":"10.6065\/apem.2016.21.1.15","volume":"21","author":"YM Kim","year":"2016","unstructured":"Kim YM, Cho JH, Kang E, Kim GH, Seo EJ, Lee BH, et al. Endocrine dysfunctions in children with Williams-Beuren syndrome. Ann Pediatr Endocrinol Metab mars. 2016;21(1):15\u201320.","journal-title":"Ann Pediatr Endocrinol Metab mars"},{"key":"4483_CR32","unstructured":"Protocole National de Diagnostic et de Soins (PNDS). Syndrome de Williams-Beuren. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2014-02\/pnds_-_syndrome_de_williams-beuren.pdf. Accessed 29 August 2024."},{"issue":"6","key":"4483_CR33","first-page":"e353","volume":"33","author":"BR Del Pozzo-Maga\u00f1a","year":"2016","unstructured":"Del Pozzo-Maga\u00f1a BR, Ho N. Subcutaneous Fat Necrosis of the Newborn: A 20-Year Retrospective Study. Pediatr Dermatol nov. 2016;33(6):e353\u20135.","journal-title":"Pediatr Dermatol nov"},{"issue":"2","key":"4483_CR34","doi-asserted-by":"crossref","first-page":"423","DOI":"10.1111\/j.1365-2133.2008.08844.x","volume":"160","author":"A Farooque","year":"2009","unstructured":"Farooque A, Moss C, Zehnder D, Hewison M, Shaw NJ. Expression of 25-hydroxyvitamin D3-1alpha-hydroxylase in subcutaneous fat necrosis. Br J Dermatol f\u00e9vr. 2009;160(2):423\u20135.","journal-title":"Br J Dermatol f\u00e9vr"},{"issue":"5","key":"4483_CR35","doi-asserted-by":"crossref","first-page":"375","DOI":"10.1007\/s004310051290","volume":"159","author":"H Mochizuki","year":"2000","unstructured":"Mochizuki H, Saito M, Michigami T, Ohashi H, Koda N, Yamaguchi S, et al. Severe hypercalcaemia and respiratory insufficiency associated with infantile hypophosphatasia caused by two novel mutations of the tissue-nonspecific alkaline phosphatase gene. Eur J Pediatr mai. 2000;159(5):375\u20139.","journal-title":"Eur J Pediatr mai"},{"issue":"4","key":"4483_CR36","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1038\/nrendo.2016.14","volume":"12","author":"MP Whyte","year":"2016","unstructured":"Whyte MP. Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment. Nat Rev Endocrinol avr. 2016;12(4):233\u201346.","journal-title":"Nat Rev Endocrinol avr"},{"issue":"3","key":"4483_CR37","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1007\/s11914-016-0309-0","volume":"14","author":"A Linglart","year":"2016","unstructured":"Linglart A, Biosse-Duplan M, Hypophosphatasia. Curr Osteoporos Rep juin. 2016;14(3):95\u2013105.","journal-title":"Curr Osteoporos Rep juin"},{"key":"4483_CR38","unstructured":"Protocole National de Diagnostic et de Soins (PNDS) - HYPOPHOSPHATASIE. https:\/\/www.has-sante.fr\/upload\/docs\/application\/pdf\/2021-07\/pnds_hpp_-_version_finale.pdf. Accessed 29 August 2024."},{"issue":"9","key":"4483_CR39","first-page":"3052","volume":"84","author":"E Schipani","year":"1999","unstructured":"Schipani E, Langman C, Hunzelman J, Le Merrer M, Loke KY, Dillon MJ, et al. A novel parathyroid hormone (PTH)\/PTH-related peptide receptor mutation in Jansen\u2019s metaphyseal chondrodysplasia. J Clin Endocrinol Metab sept. 1999;84(9):3052\u20137.","journal-title":"J Clin Endocrinol Metab sept"},{"issue":"6","key":"4483_CR40","doi-asserted-by":"crossref","first-page":"533","DOI":"10.1136\/archdischild-2011-301284","volume":"97","author":"JH Davies","year":"2012","unstructured":"Davies JH, Shaw NJ. Investigation and management of hypercalcaemia in children. Arch Dis Child juin. 2012;97(6):533\u20138.","journal-title":"Arch Dis Child juin"},{"issue":"3","key":"4483_CR41","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1111\/jpc.13768","volume":"54","author":"PJ Simm","year":"2018","unstructured":"Simm PJ, Biggin A, Zacharin MR, Rodda CP, Tham E, Siafarikas A, et al. Consensus guidelines on the use of bisphosphonate therapy in children and adolescents. J Paediatr Child Health mars. 2018;54(3):223\u201333.","journal-title":"J Paediatr Child Health mars"},{"issue":"2","key":"4483_CR42","first-page":"160","volume":"7","author":"S Skalova","year":"2013","unstructured":"Skalova S, Cerna L, Bayer M, Kutilek S, Konrad M, Schlingmann KP. Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia. Iran J Kidney Dis mars. 2013;7(2):160\u20134.","journal-title":"Iran J Kidney Dis mars"},{"issue":"5","key":"4483_CR43","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1016\/S0022-3476(84)80303-0","volume":"105","author":"PR Goodyer","year":"1984","unstructured":"Goodyer PR, Frank A, Kaplan BS. Observations on the evolution and treatment of idiopathic infantile hypercalcemia. J Pediatr nov. 1984;105(5):771\u20133.","journal-title":"J Pediatr nov"},{"issue":"1","key":"4483_CR44","first-page":"47","volume":"12","author":"U Alon","year":"1992","unstructured":"Alon U, Berkowitz D, Berant M. Idiopathic infantile hypercalcemia: rapid response to treatment with calcitonin. Child Nephrol Urol. 1992;12(1):47\u201350.","journal-title":"Child Nephrol Urol"},{"issue":"3","key":"4483_CR45","doi-asserted-by":"crossref","first-page":"e812","DOI":"10.1542\/peds.2011-0128","volume":"129","author":"A Wilhelm-Bals","year":"2012","unstructured":"Wilhelm-Bals A, Parvex P, Magdelaine C, Girardin E. Successful use of bisphosphonate and calcimimetic in neonatal severe primary hyperparathyroidism. Pediatr mars. 2012;129(3):e812\u2013816.","journal-title":"Pediatr mars"},{"issue":"2","key":"4483_CR46","doi-asserted-by":"crossref","first-page":"104","DOI":"10.1159\/000350540","volume":"104","author":"E Garc\u00eda Soblechero","year":"2013","unstructured":"Garc\u00eda Soblechero E, Ferrer Castillo MT, Jim\u00e9nez Crespo B, Dom\u00ednguez Quintero ML, Gonz\u00e1lez Fuentes C. Neonatal hypercalcemia due to a homozygous mutation in the calcium-sensing receptor: failure of cinacalcet. Neonatology. 2013;104(2):104\u20138.","journal-title":"Neonatology"},{"issue":"11","key":"4483_CR47","doi-asserted-by":"crossref","first-page":"2157","DOI":"10.1002\/jbmr.3296","volume":"32","author":"VJ Stokes","year":"2017","unstructured":"Stokes VJ, Nielsen MF, Hannan FM, Thakker RV. Hypercalcemic Disorders in Children. J Bone Min Res nov. 2017;32(11):2157\u201370.","journal-title":"J Bone Min Res nov"},{"issue":"10","key":"4483_CR48","doi-asserted-by":"crossref","first-page":"2938","DOI":"10.1210\/clinem\/dgab432","volume":"106","author":"N Lenherr-Taube","year":"2021","unstructured":"Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, et al. Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study. J Clin Endocrinol Metab 27 sept. 2021;106(10):2938\u201348.","journal-title":"J Clin Endocrinol Metab 27 sept"},{"issue":"2","key":"4483_CR49","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1016\/j.jpeds.2010.02.025","volume":"157","author":"M Nguyen","year":"2010","unstructured":"Nguyen M, Boutignon H, Mallet E, Linglart A, Guillozo H, Jehan F, et al. Infantile hypercalcemia and hypercalciuria: new insights into a vitamin D-dependent mechanism and response to ketoconazole treatment. J Pediatr ao\u00fbt. 2010;157(2):296\u2013302.","journal-title":"J Pediatr ao\u00fbt"},{"issue":"6","key":"4483_CR50","first-page":"1446","volume":"75","author":"NA Breslau","year":"1992","unstructured":"Breslau NA, Preminger GM, Adams BV, Otey J, Pak CY. Use of ketoconazole to probe the pathogenetic importance of 1,25-dihydroxyvitamin D in absorptive hypercalciuria. J Clin Endocrinol Metab d\u00e9c. 1992;75(6):1446\u201352.","journal-title":"J Clin Endocrinol Metab d\u00e9c"},{"issue":"3","key":"4483_CR51","doi-asserted-by":"crossref","first-page":"E423","DOI":"10.1210\/jc.2011-1935","volume":"97","author":"PJ Tebben","year":"2012","unstructured":"Tebben PJ, Milliner DS, Horst RL, Harris PC, Singh RJ, Wu Y, et al. Hypercalcemia, hypercalciuria, and elevated calcitriol concentrations with autosomal dominant transmission due to CYP24A1 mutations: effects of ketoconazole therapy. J Clin Endocrinol Metab mars. 2012;97(3):E423\u2013427.","journal-title":"J Clin Endocrinol Metab mars"},{"issue":"4","key":"4483_CR52","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1093\/ckj\/sfv028","volume":"8","author":"J Sayers","year":"2015","unstructured":"Sayers J, Hynes AM, Srivastava S, Dowen F, Quinton R, Datta HK, et al. Successful treatment of hypercalcaemia associated with a CYP24A1 mutation with fluconazole. Clin Kidney J ao\u00fbt. 2015;8(4):453\u20135.","journal-title":"Clin Kidney J ao\u00fbt"},{"issue":"3","key":"4483_CR53","doi-asserted-by":"crossref","first-page":"1069","DOI":"10.1046\/j.1523-1755.2001.0600031069.x","volume":"60","author":"D Pri\u00e9","year":"2001","unstructured":"Pri\u00e9 D, Couette S, Fernandes I, Silve C, Friedlander G. P-glycoprotein inhibitors stimulate renal phosphate reabsorption in rats. Kidney Int sept. 2001;60(3):1069\u201376.","journal-title":"Kidney Int sept"},{"issue":"7","key":"4483_CR54","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1681\/ASN.V971264","volume":"9","author":"D Pri\u00e9","year":"1998","unstructured":"Pri\u00e9 D, Blanchet FB, Essig M, Jourdain JP, Friedlander G. Dipyridamole decreases renal phosphate leak and augments serum phosphorus in patients with low renal phosphate threshold. J Am Soc Nephrol juill. 1998;9(7):1264\u20139.","journal-title":"J Am Soc Nephrol juill"},{"key":"4483_CR55","doi-asserted-by":"crossref","unstructured":"Michaut P, Pri\u00e9 D, Amiel C, Friedlander G. Dipyridamole for renal phosphate leak? N Engl J Med. 1994;331(1):58\u20139.","DOI":"10.1056\/NEJM199407073310122"},{"issue":"6929","key":"4483_CR56","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1016\/S0140-6736(56)91518-5","volume":"270","author":"HG Morgan","year":"1956","unstructured":"Morgan HG, Mitchell RG, Stowers JM, Thomson J. Metabolic studies on two infants with idiopathic hypercalcaemia. Lancet 16 juin. 1956;270(6929):925\u201331.","journal-title":"Lancet 16 juin"},{"issue":"4","key":"4483_CR57","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1111\/j.1440-1754.1996.tb02569.x","volume":"32","author":"Y Mizusawa","year":"1996","unstructured":"Mizusawa Y, Burke JR. Prednisolone and cellulose phosphate treatment in idiopathic infantile hypercalcaemia with nephrocalcinosis. J Paediatr Child Health ao\u00fbt. 1996;32(4):350\u20132.","journal-title":"J Paediatr Child Health ao\u00fbt"},{"issue":"2","key":"4483_CR58","doi-asserted-by":"crossref","first-page":"140","DOI":"10.4274\/jcrpe.galenos.2018.2018.0131","volume":"11","author":"K Demir","year":"2019","unstructured":"Demir K, D\u00f6neray H, Kara C, Atay Z, \u00c7etinkaya S, \u00c7ay\u0131r A, et al. Comparison of Treatment Regimens in Management of Severe Hypercalcemia Due to Vitamin D Intoxication in Children. J Clin Res Pediatr Endocrinol 28 mai. 2019;11(2):140\u20138.","journal-title":"J Clin Res Pediatr Endocrinol 28 mai"},{"issue":"11","key":"4483_CR59","doi-asserted-by":"crossref","first-page":"1676","DOI":"10.1007\/s00467-006-0217-0","volume":"21","author":"J Huang","year":"2006","unstructured":"Huang J, Coman D, McTaggart SJ, Burke JR. Long-term follow-up of patients with idiopathic infantile hypercalcaemia. Pediatr Nephrol nov. 2006;21(11):1676\u201380.","journal-title":"Pediatr Nephrol nov"},{"issue":"4","key":"4483_CR60","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1016\/j.arcped.2022.02.008","volume":"29","author":"J Bacchetta","year":"2022","unstructured":"Bacchetta J, Edouard T, Laverny G, Bernardor J, Bertholet-Thomas A, Castanet M, et al. Vitamin D and calcium intakes in general pediatric populations: A French expert consensus paper. Arch Pediatr mai. 2022;29(4):312\u201325.","journal-title":"Arch Pediatr mai"}],"container-title":["Orphanet Journal of Rare Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04483-3","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04483-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13023-026-04483-3.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T04:10:14Z","timestamp":1792123814000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13023-026-04483-3"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,17]]},"references-count":60,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2026,12]]}},"alternative-id":["4483"],"URL":"https:\/\/doi.org\/10.1186\/s13023-026-04483-3","relation":{},"ISSN":["1750-1172"],"issn-type":[{"value":"1750-1172","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,17]]},"assertion":[{"value":"10 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 June 2026","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"17 July 2026","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Not applicable.","order":1,"name":"Ethics","label":"Ethics approval and consent to participate","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Not applicable.","order":2,"name":"Ethics","label":"Consent for publication","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The authors declare that they have no competing interests.","order":3,"name":"Ethics","label":"Competing interests","group":{"name":"EthicsHeading","label":"Declarations"}}],"article-number":"360"}}