{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,24]],"date-time":"2026-07-24T16:14:23Z","timestamp":1784909663829,"version":"3.55.0"},"reference-count":88,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,5,1]],"date-time":"2024-05-01T00:00:00Z","timestamp":1714521600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,4,18]],"date-time":"2025-04-18T00:00:00Z","timestamp":1744934400000},"content-version":"am","delay-in-days":352,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100002822","name":"Central South University","doi-asserted-by":"publisher","award":["208102104"],"award-info":[{"award-number":["208102104"]}],"id":[{"id":"10.13039\/501100002822","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002822","name":"Central South University","doi-asserted-by":"publisher","award":["PI20\/00922"],"award-info":[{"award-number":["PI20\/00922"]}],"id":[{"id":"10.13039\/501100002822","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"NIH","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004587","name":"Instituto de Salud Carlos III","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004587","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000780","name":"European Commission","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000780","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["kidney-international.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Kidney International"],"published-print":{"date-parts":[[2024,5]]},"DOI":"10.1016\/j.kint.2024.01.031","type":"journal-article","created":{"date-parts":[[2024,2,15]],"date-time":"2024-02-15T05:14:15Z","timestamp":1707974055000},"page":"1058-1076","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":22,"title":["An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)"],"prefix":"10.1016","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5320-9391","authenticated-orcid":false,"given":"Zewu","family":"Zhu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bryan","family":"Bo-Ran Ho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alyssa","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Amrhein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreea","family":"Apetrei","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas Oliver","family":"Carpenter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marise","family":"Lazaretti-Castro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juan Manuel","family":"Colazo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathryn","family":"McCrystal Dahir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michaela","family":"Ge\u00dfner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evgenia","family":"Gurevich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cathrine Alsaker","family":"Heier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill Hickman","family":"Simmons","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy Earl","family":"Hunley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8120-3306","authenticated-orcid":false,"given":"Bernd","family":"Hoppe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christina","family":"Jacobsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Kouri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sachin","family":"Majumdar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0520-2800","authenticated-orcid":false,"given":"Arnaud","family":"Molin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natalie","family":"Nokoff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan M.","family":"Ott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helena Gil","family":"Pe\u00f1a","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Santos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Tebben","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa Swartz","family":"Topor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanhong","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clemens","family":"Bergwitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.kint.2024.01.031_bib1","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1086\/499409","article-title":"SLC34A3 mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria predict a key role for the sodium-phosphate cotransporter NaPi-IIc in maintaining phosphate homeostasis","volume":"78","author":"Bergwitz","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2024.01.031_bib2","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1086\/499410","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria is caused by mutations in the sodium-phosphate cotransporter gene SLC34A3","volume":"78","author":"Lorenz-Depiereux","year":"2006","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.kint.2024.01.031_bib3","doi-asserted-by":"crossref","first-page":"4022","DOI":"10.1210\/jc.2005-2840","article-title":"Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria","volume":"91","author":"Ichikawa","year":"2006","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib4","doi-asserted-by":"crossref","first-page":"374","DOI":"10.1159\/000520299","article-title":"Variable clinical presentation of children with hereditary hypophosphatemic rickets with hypercalciuria: a case series and review of the literature","volume":"94","author":"Christensen","year":"2021","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.kint.2024.01.031_bib5","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1056\/NEJM198701153160302","article-title":"\"Idiopathic\" hypercalciuria and hereditary hypophosphatemic rickets. Two phenotypical expressions of a common genetic defect","volume":"316","author":"Tieder","year":"1987","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.kint.2024.01.031_bib6","doi-asserted-by":"crossref","first-page":"611","DOI":"10.1056\/NEJM198503073121003","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria","volume":"312","author":"Tieder","year":"1985","journal-title":"N\u00a0Engl J Med"},{"key":"10.1016\/j.kint.2024.01.031_bib7","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1159\/000360291","article-title":"Association between compound heterozygous mutations of SLC34A3 and hypercalciuria","volume":"82","author":"Abe","year":"2014","journal-title":"Horm Res Paediatr"},{"key":"10.1016\/j.kint.2024.01.031_bib8","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1681\/ASN.2013101085","article-title":"Mutations in SLC34A3\/NPT2c are associated with kidney stones and nephrocalcinosis","volume":"25","author":"Dasgupta","year":"2014","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib9","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1007\/s00424-018-2184-2","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy","volume":"471","author":"Bergwitz","year":"2019","journal-title":"Pflugers Arch"},{"key":"10.1016\/j.kint.2024.01.031_bib10","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1038\/s41598-022-25995-5","article-title":"Relationship between clinical phenotype and in\u00a0vitro analysis of 13 NPT2c\/SCL34A3 mutants","volume":"13","author":"Brazier","year":"2023","journal-title":"Sci Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib11","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1007\/s00240-019-01116-2","article-title":"Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting","volume":"47","author":"Schonauer","year":"2019","journal-title":"Urolithiasis"},{"key":"10.1016\/j.kint.2024.01.031_bib12","doi-asserted-by":"crossref","DOI":"10.1016\/j.xkme.2022.100419","article-title":"Kidney cysts in hypophosphatemic rickets with hypercalciuria: a case series","volume":"4","author":"Hanna","year":"2022","journal-title":"Kidney Med"},{"key":"10.1016\/j.kint.2024.01.031_bib13","doi-asserted-by":"crossref","DOI":"10.3389\/fendo.2021.736240","article-title":"Overlapping phenotypes associated with CYP24A1, SLC34A1, and SLC34A3 mutations: a cohort study of patients with hypersensitivity to vitamin D","volume":"12","author":"Molin","year":"2021","journal-title":"Front Endocrinol (Lausanne)"},{"key":"10.1016\/j.kint.2024.01.031_bib14","doi-asserted-by":"crossref","first-page":"276","DOI":"10.1542\/peds.84.2.276","article-title":"Hypercalciuric hypophosphatemic rickets, mineral balance, bone histomorphometry, and therapeutic implications of hypercalciuria","volume":"84","author":"Chen","year":"1989","journal-title":"Pediatrics"},{"key":"10.1016\/j.kint.2024.01.031_bib15","doi-asserted-by":"crossref","first-page":"4433","DOI":"10.1210\/jc.2009-1535","article-title":"Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3\/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis","volume":"94","author":"Tencza","year":"2009","journal-title":"J\u00a0ClinEndocrinol Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib16","doi-asserted-by":"crossref","DOI":"10.1007\/978-3-319-73082-0","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) presenting with genu valgum deformity: treatment with phosphate supplementation and surgical correction","volume":"2020","author":"Colazo","year":"2020","journal-title":"Case Rep Endocrinol"},{"key":"10.1016\/j.kint.2024.01.031_bib17","doi-asserted-by":"crossref","first-page":"407","DOI":"10.1007\/s00774-007-0776-6","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function","volume":"25","author":"Yamamoto","year":"2007","journal-title":"J\u00a0Bone Miner Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib18","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1016\/0009-8981(77)90059-6","article-title":"A\u00a0simple slide-rule method for the assessment of renal tubular reaborption of phosphate in man","volume":"81","author":"Walton","year":"1977","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.kint.2024.01.031_bib19","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med"},{"key":"10.1016\/j.kint.2024.01.031_bib20","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1002\/jbmr.4630","article-title":"Clinical spectrum of hereditary hypophosphatemic rickets with hypercalciuria (HHRH)","volume":"37","author":"Sturznickel","year":"2022","journal-title":"J\u00a0Bone Miner Res"},{"key":"10.1016\/j.kint.2024.01.031_bib21","doi-asserted-by":"crossref","first-page":"250","DOI":"10.1007\/BF00865491","article-title":"Assessment and interpretation of the tubular threshold for phosphate in infants and children","volume":"8","author":"Alon","year":"1994","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib22","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1136\/adc.57.3.217","article-title":"Renal threshold phosphate concentration (TmPO4\/GFR)","volume":"57","author":"Kruse","year":"1982","journal-title":"Arch Dis Child"},{"key":"10.1016\/j.kint.2024.01.031_bib23","first-page":"163","article-title":"Postnatal development of tubular phosphate reabsorption","volume":"17","author":"Brodehl","year":"1982","journal-title":"Clin Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib24","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1210\/clinem\/dgad597","article-title":"LMS-based pediatric reference values for parameters of phosphate homeostasis in the HARP cohort","volume":"109","author":"Pott","year":"2024","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib25","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1097\/MED.0b013e328334f041","article-title":"Regulation of calcium homeostasis and bone metabolism in the fetus and neonate","volume":"17","author":"Mitchell","year":"2010","journal-title":"Curr Opin Endocrinol Diabetes Obes"},{"key":"10.1016\/j.kint.2024.01.031_bib26","doi-asserted-by":"crossref","first-page":"1735","DOI":"10.1093\/clinchem\/28.8.1735","article-title":"A\u00a0multi-stage Gaussian transformation algorithm for clinical laboratory data","volume":"28","author":"Boyd","year":"1982","journal-title":"Clin Chem"},{"issue":"suppl 1","key":"10.1016\/j.kint.2024.01.031_bib27","first-page":"138","article-title":"The resurgence of the importance of vitamin D in bone health","volume":"17","author":"Lee","year":"2008","journal-title":"Asia Pac J Clin Nutr"},{"key":"10.1016\/j.kint.2024.01.031_bib28","doi-asserted-by":"crossref","first-page":"5371","DOI":"10.1002\/sim.6277","article-title":"Review of methods for handling confounding by cluster and informative cluster size in clustered data","volume":"33","author":"Seaman","year":"2014","journal-title":"Stat Med"},{"key":"10.1016\/j.kint.2024.01.031_bib29","article-title":"Maternal consumption of ultra-processed foods and subsequent risk of offspring overweight or obesity: results from three prospective cohort studies","volume":"379","author":"Wang","year":"2022","journal-title":"BMJ"},{"key":"10.1016\/j.kint.2024.01.031_bib30","doi-asserted-by":"crossref","DOI":"10.1016\/j.ijnurstu.2021.103872","article-title":"Effectiveness of a nurse-led temporal self-regulation theory-based program on heart failure self-care: a randomized controlled trial","volume":"115","author":"Chew","year":"2021","journal-title":"Int J Nurs Stud"},{"key":"10.1016\/j.kint.2024.01.031_bib31","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1016\/j.neuron.2021.10.030","article-title":"Beyond t test and ANOVA: applications of mixed-effects models for more rigorous statistical analysis in neuroscience research","volume":"110","author":"Yu","year":"2022","journal-title":"Neuron"},{"key":"10.1016\/j.kint.2024.01.031_bib32","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1017\/S0003055401000235","article-title":"Analyzing incomplete political science data: an alternative algorithm for multiple imputation","volume":"95","author":"King","year":"2001","journal-title":"Am Polit Sci Rev"},{"key":"10.1016\/j.kint.2024.01.031_bib33","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1177\/096228029900800103","article-title":"Applications of multiple imputation in medical studies: from AIDS to NHANES","volume":"8","author":"Barnard","year":"1999","journal-title":"Stat Methods Med Res"},{"key":"10.1016\/j.kint.2024.01.031_bib34","doi-asserted-by":"crossref","first-page":"1061","DOI":"10.1038\/nature09534","article-title":"A\u00a0map of human genome variation from population-scale sequencing","volume":"467","author":"Abecasis","year":"2010","journal-title":"Nature"},{"key":"10.1016\/j.kint.2024.01.031_bib35","doi-asserted-by":"crossref","first-page":"D173","DOI":"10.1093\/nar\/gkj158","article-title":"Database resources of the National Center for Biotechnology Information","volume":"34","author":"Wheeler","year":"2006","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.kint.2024.01.031_bib36","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1038\/nmeth0410-248","article-title":"A\u00a0method and server for predicting damaging missense mutations","volume":"7","author":"Adzhubei","year":"2010","journal-title":"Nat Methods"},{"key":"10.1016\/j.kint.2024.01.031_bib37","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1186\/s13059-016-0974-4","article-title":"The Ensembl Variant Effect Predictor","volume":"17","author":"McLaren","year":"2016","journal-title":"Genome Biol"},{"key":"10.1016\/j.kint.2024.01.031_bib38","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1101\/gr.097857.109","article-title":"Detection of nonneutral substitution rates on mammalian phylogenies","volume":"20","author":"Pollard","year":"2010","journal-title":"Genome Res"},{"key":"10.1016\/j.kint.2024.01.031_bib39","doi-asserted-by":"crossref","first-page":"1182","DOI":"10.1007\/s12098-022-04393-9","article-title":"Exome sequencing in monogenic forms of rickets","volume":"90","author":"Jacob","year":"2023","journal-title":"Indian J Pediatr"},{"key":"10.1016\/j.kint.2024.01.031_bib40","doi-asserted-by":"crossref","first-page":"2615","DOI":"10.1007\/s00467-023-05879-0","article-title":"Genetic testing in children with nephrolithiasis and nephrocalcinosis","volume":"38","author":"Gefen","year":"2023","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib41","doi-asserted-by":"crossref","first-page":"387","DOI":"10.4183\/aeb.2022.387","article-title":"SLC34A3 gene mutation as a rare cause of hypophosphatemia in two siblings","volume":"18","author":"Karakilic-Ozturan","year":"2022","journal-title":"Acta Endocrinol (Buchar)"},{"key":"10.1016\/j.kint.2024.01.031_bib42","article-title":"Growth hormone therapy in HHRH","volume":"16","author":"Filler","year":"2022","journal-title":"Bone Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib43","doi-asserted-by":"crossref","first-page":"161","DOI":"10.1186\/s12920-022-01305-w","article-title":"Identification of six novel variants from nine Chinese families with hypophosphatemic rickets","volume":"15","author":"Cao","year":"2022","journal-title":"BMC Med Genomics"},{"key":"10.1016\/j.kint.2024.01.031_bib44","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1515\/jpem-2020-0624","article-title":"Experience with the targeted next-generation sequencing in the diagnosis of hereditary hypophosphatemic rickets","volume":"34","author":"Turan","year":"2021","journal-title":"J\u00a0Pediatr Endocrinol Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib45","doi-asserted-by":"crossref","first-page":"2915","DOI":"10.1210\/clinem\/dgab431","article-title":"Mild idiopathic infantile hypercalcemia-part 1: biochemical and genetic findings","volume":"106","author":"Lenherr-Taube","year":"2021","journal-title":"J\u00a0Clin Endocrinol Metab"},{"key":"10.1016\/j.kint.2024.01.031_bib46","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2021.752312","article-title":"Childhood hypercalciuric hypercalcemia with elevated vitamin D and suppressed parathyroid hormone: long-term follow up","volume":"9","author":"Gurevich","year":"2021","journal-title":"Front Pediatr"},{"key":"10.1016\/j.kint.2024.01.031_bib47","doi-asserted-by":"crossref","first-page":"2862","DOI":"10.1016\/j.ekir.2021.08.033","article-title":"Comprehensive genetic analysis reveals complexity of monogenic urinary stone disease","volume":"6","author":"Cogal","year":"2021","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib48","doi-asserted-by":"crossref","first-page":"2392","DOI":"10.1210\/clinem\/dgaa217","article-title":"Digenic heterozygous mutations in\u00a0SLC34A3 and SLC34A1 cause dominant hypophosphatemic rickets with hypercalciuria","volume":"105","author":"Gordon","year":"2020","journal-title":"J\u00a0Clin Endocrinol Metabol"},{"key":"10.1016\/j.kint.2024.01.031_bib49","doi-asserted-by":"crossref","DOI":"10.1177\/1759720X20912862","article-title":"Description of a novel SLC34A3.c.671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone","volume":"12","author":"Dreimane","year":"2020","journal-title":"Ther Adv Musculoskelet Dis"},{"key":"10.1016\/j.kint.2024.01.031_bib50","doi-asserted-by":"crossref","first-page":"e105","DOI":"10.4158\/ACCR-2019-0456","article-title":"Hypophosphatemic rickets with hypercalciuria: a novel homozygous mutation in Slc34a3 and literature review","volume":"6","author":"Bhadada","year":"2020","journal-title":"AACE Clin Case Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib51","first-page":"1","article-title":"Phosphate matters when investigating hypercalcemia: a mutation in SLC34A3 causing HHRH","volume":"2019","author":"Tang","year":"2019","journal-title":"Endocrinol Diabetes Metab Case Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib52","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1016\/j.ekir.2019.05.004","article-title":"Description of 5 novel SLC34A3\/NPT2c mutations causing hereditary hypophosphatemic rickets with hypercalciuria","volume":"4","author":"Chen","year":"2019","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib53","doi-asserted-by":"crossref","first-page":"886","DOI":"10.1053\/j.ajkd.2018.12.026","article-title":"Fluconazole as a new therapeutic tool to manage patients with NPTIIc (SLC34A3) mutation: a case report","volume":"73","author":"Bertholet-Thomas","year":"2019","journal-title":"Am J Kidney Dis"},{"key":"10.1016\/j.kint.2024.01.031_bib54","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1016\/j.bone.2016.12.001","article-title":"Late-onset hereditary hypophosphatemic rickets with hypercalciuria (HHRH) due to mutation of SLC34A3\/NPT2c","volume":"97","author":"Dhir","year":"2017","journal-title":"Bone"},{"key":"10.1016\/j.kint.2024.01.031_bib55","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.bone.2013.10.018","article-title":"Intronic deletions in the SLC34A3 gene: a cautionary tale for mutation analysis of hereditary hypophosphatemic rickets with hypercalciuria","volume":"59","author":"Ichikawa","year":"2014","journal-title":"Bone"},{"key":"10.1016\/j.kint.2024.01.031_bib56","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1016\/j.bone.2013.11.008","article-title":"A\u00a0compound heterozygous mutation in SLC34A3 causes hereditary hypophosphatemic rickets with hypercalciuria in a Chinese patient","volume":"59","author":"Chi","year":"2014","journal-title":"Bone"},{"key":"10.1016\/j.kint.2024.01.031_bib57","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.bone.2012.12.003","article-title":"Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family","volume":"53","author":"Braithwaite","year":"2013","journal-title":"Bone"},{"key":"10.1016\/j.kint.2024.01.031_bib58","doi-asserted-by":"crossref","first-page":"1100","DOI":"10.1016\/j.bone.2012.02.015","article-title":"Novel NaPi-IIc mutations causing HHRH and idiopathic hypercalciuria in several unrelated families: long-term follow-up in one kindred","volume":"50","author":"Yu","year":"2012","journal-title":"Bone"},{"key":"10.1016\/j.kint.2024.01.031_bib59","doi-asserted-by":"crossref","first-page":"89","DOI":"10.4274\/jcrpe.601","article-title":"SLC34A3 intronic deletion in a new kindred with hereditary hypophosphatemic rickets with hypercalciuria","volume":"4","author":"Hasani-Ranjbar","year":"2012","journal-title":"J\u00a0Clin Res Pediatr Endocrinol"},{"key":"10.1016\/j.kint.2024.01.031_bib60","first-page":"529","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria: case report","volume":"32","author":"Areses-Trapote","year":"2012","journal-title":"Nefrologia"},{"key":"10.1016\/j.kint.2024.01.031_bib61","doi-asserted-by":"crossref","first-page":"626","DOI":"10.1002\/ajmg.a.33832","article-title":"Hereditary hypophosphatemic rickets with hypercalciuria and nephrolithiasis\u2014identification of a novel SLC34A3\/NaPi-IIc mutation","volume":"155a","author":"Phulwani","year":"2011","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.kint.2024.01.031_bib62","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1186\/1750-1172-5-1","article-title":"Genetic and clinical peculiarities in a new family with hereditary hypophosphatemic rickets with hypercalciuria: a case report","volume":"5","author":"Mejia-Gaviria","year":"2010","journal-title":"Orphanet J Rare Dis"},{"key":"10.1016\/j.kint.2024.01.031_bib63","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1055\/s-2008-1076716","article-title":"Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3\/NaPi-IIc can be masked by vitamin D deficiency and can be associated with renal calcifications","volume":"117","author":"Kremke","year":"2009","journal-title":"Exp Clin Endocrinol Diabetes"},{"key":"10.1016\/j.kint.2024.01.031_bib64","doi-asserted-by":"crossref","first-page":"869","DOI":"10.4158\/EP.14.7.869","article-title":"A\u00a0patient with hypophosphatemia, a femoral fracture, and recurrent kidney stones: report of a novel mutation in SLC34A3","volume":"14","author":"Page","year":"2008","journal-title":"Endocr Pract"},{"key":"10.1016\/j.kint.2024.01.031_bib65","doi-asserted-by":"crossref","first-page":"F371","DOI":"10.1152\/ajprenal.00090.2008","article-title":"A\u00a0novel missense mutation in SLC34A3 that causes hereditary hypophosphatemic rickets with hypercalciuria in humans identifies threonine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc","volume":"295","author":"Jaureguiberry","year":"2008","journal-title":"Am J Physiol Renal Physiol"},{"key":"10.1016\/j.kint.2024.01.031_bib66","doi-asserted-by":"crossref","unstructured":"Valadares LP, de Carvalho DR. Novel variant of SLC34A3 in a compound heterozygous Brazilian girl with hereditary hypophosphatemic rickets with hypercalciuria. J Clin Res Pediatr Endocrinol. Published online September 8, 2023. doi: 10.4274\/jcrpe.galenos.2023.2023-5-2","DOI":"10.4274\/jcrpe.galenos.2023.2023-5-2"},{"key":"10.1016\/j.kint.2024.01.031_bib67","article-title":"Genu valgum, fractures, and renal stones in a 10-year-old girl","volume":"1","author":"Christensen","year":"2023","journal-title":"JCEM Case Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib68","first-page":"e86","article-title":"Kidney stones: a global picture of prevalence, incidence, and associated risk factors","volume":"12","author":"Romero","year":"2010","journal-title":"Rev Urol"},{"key":"10.1016\/j.kint.2024.01.031_bib69","doi-asserted-by":"crossref","first-page":"C1316","DOI":"10.1152\/ajpcell.00314.2011","article-title":"Processing and stability of type IIc sodium-dependent phosphate cotransporter mutations in patients with hereditary hypophosphatemic rickets with hypercalciuria","volume":"302","author":"Haito-Sugino","year":"2012","journal-title":"Am J Physiol Cell Physiol"},{"key":"10.1016\/j.kint.2024.01.031_bib70","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s00467-017-3873-3","article-title":"Renal phosphate handling and inherited disorders of phosphate reabsorption: an update","volume":"34","author":"Wagner","year":"2019","journal-title":"Pediatr Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib71","doi-asserted-by":"crossref","first-page":"1261","DOI":"10.1007\/s00424-013-1261-9","article-title":"Conferring electrogenicity to the electroneutral phosphate cotransporter NaPi-IIc (SLC34A3) reveals an internal cation release step","volume":"465","author":"Patti","year":"2013","journal-title":"Pflugers Arch"},{"key":"10.1016\/j.kint.2024.01.031_bib72","doi-asserted-by":"crossref","first-page":"1819","DOI":"10.1681\/ASN.0000000000000204","article-title":"Risk of nephrolithiasis in adults heterozygous for SLC34A3 Ser192Leu in an unselected health system cohort","volume":"34","author":"Nwachukwu","year":"2023","journal-title":"J\u00a0Am Soc Nephrol"},{"key":"10.1016\/j.kint.2024.01.031_bib73","doi-asserted-by":"crossref","first-page":"975","DOI":"10.1016\/j.kint.2023.06.019","article-title":"Rare variants in in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease","volume":"104","author":"Sadeghi-Alavijeh","year":"2023","journal-title":"Kidney Int"},{"key":"10.1016\/j.kint.2024.01.031_bib74","doi-asserted-by":"crossref","first-page":"4506","DOI":"10.1172\/JCI128503","article-title":"Crystal deposition triggers tubule dilation that accelerates cystogenesis in polycystic kidney disease","volume":"129","author":"Torres","year":"2019","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2024.01.031_bib75","doi-asserted-by":"crossref","first-page":"130","DOI":"10.1038\/ng1095-130","article-title":"A\u00a0gene (PEX) with homologies to endopeptidases is mutated in patients with X-linked hypophosphatemic rickets. The HYP Consortium","volume":"11","year":"1995","journal-title":"Nat Genet"},{"key":"10.1016\/j.kint.2024.01.031_bib76","article-title":"Response of Npt2a knockout mice to dietary calcium and phosphorus","volume":"12","author":"Li","year":"2017","journal-title":"PloS One"},{"key":"10.1016\/j.kint.2024.01.031_bib77","doi-asserted-by":"crossref","first-page":"5372","DOI":"10.1073\/pnas.95.9.5372","article-title":"Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities","volume":"95","author":"Beck","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.kint.2024.01.031_bib78","doi-asserted-by":"crossref","first-page":"F671","DOI":"10.1152\/ajprenal.00156.2009","article-title":"Npt2a and Npt2c in mice play distinct and synergistic roles in inorganic phosphate metabolism and skeletal development","volume":"297","author":"Segawa","year":"2009","journal-title":"Am J Physiol Renal Physiol"},{"key":"10.1016\/j.kint.2024.01.031_bib79","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s11154-023-09809-1","article-title":"Incomplete penetrance and variable expressivity in monogenic diabetes; a challenge but also an opportunity","volume":"24","author":"Li","year":"2023","journal-title":"Rev Endocr Metab Disord"},{"key":"10.1016\/j.kint.2024.01.031_bib80","doi-asserted-by":"crossref","first-page":"363","DOI":"10.1038\/s41582-023-00811-4","article-title":"Mechanisms underlying phenotypic variation in neurogenetic disorders","volume":"19","author":"Burgunder","year":"2023","journal-title":"Nat Rev Neurol"},{"key":"10.1016\/j.kint.2024.01.031_bib81","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1016\/j.ekir.2021.02.005","article-title":"Genetic background and clinicopathologic features of adult-onset nephronophthisis","volume":"6","author":"Fujimaru","year":"2021","journal-title":"Kidney Int Rep"},{"key":"10.1016\/j.kint.2024.01.031_bib82","doi-asserted-by":"crossref","first-page":"344","DOI":"10.3389\/fimmu.2017.00344","article-title":"Monogenic autoinflammatory diseases with Mendelian inheritance: genes, mutations, and genotype\/phenotype correlations","volume":"8","author":"Martorana","year":"2017","journal-title":"Front Immunol"},{"key":"10.1016\/j.kint.2024.01.031_bib83","doi-asserted-by":"crossref","first-page":"3895","DOI":"10.1038\/s41467-022-31686-6","article-title":"Loss-of-function, gain-of-function and dominant-negative mutations have profoundly different effects on protein structure","volume":"13","author":"Gerasimavicius","year":"2022","journal-title":"Nat Commun"},{"key":"10.1016\/j.kint.2024.01.031_bib84","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1210\/endo.142.3.8029","article-title":"Renal expression of the sodium\/phosphate cotransporter gene, Npt2, is not required for regulation of renal 1 alpha-hydroxylase by phosphate","volume":"142","author":"Tenenhouse","year":"2001","journal-title":"Endocrinology"},{"key":"10.1016\/j.kint.2024.01.031_bib85","doi-asserted-by":"crossref","DOI":"10.1172\/JCI164610","article-title":"Kidney glycolysis serves as a mammalian phosphate sensor that maintains phosphate homeostasis","volume":"133","author":"Zhou","year":"2023","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2024.01.031_bib86","doi-asserted-by":"crossref","first-page":"1513","DOI":"10.1172\/JCI131190","article-title":"Glycerol-3-phosphate is an FGF23 regulator derived from the injured kidney","volume":"130","author":"Simic","year":"2020","journal-title":"J\u00a0Clin Invest"},{"key":"10.1016\/j.kint.2024.01.031_bib87","doi-asserted-by":"crossref","DOI":"10.1016\/j.jsbmb.2023.106301","article-title":"Rifampin monotherapy for children with idiopathic infantile hypercalcemia","volume":"231","author":"Lenherr-Taube","year":"2023","journal-title":"J\u00a0Steroid Biochem Mol Biol"},{"key":"10.1016\/j.kint.2024.01.031_bib88","doi-asserted-by":"crossref","first-page":"e3159","DOI":"10.1210\/clinem\/dgac315","article-title":"Long-term efficacy and safety of rifampin in the treatment of a patient carrying a CYP24A1 loss-of-function variant","volume":"107","author":"Brancatella","year":"2022","journal-title":"J\u00a0Clin Endocrinol Metab"}],"updated-by":[{"DOI":"10.1016\/j.kint.2024.05.005","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2024,7,1]],"date-time":"2024-07-01T00:00:00Z","timestamp":1719792000000}}],"container-title":["Kidney International"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253824000978?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0085253824000978?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,21]],"date-time":"2024-06-21T02:18:49Z","timestamp":1718936329000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0085253824000978"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,5]]},"references-count":88,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2024,5]]}},"alternative-id":["S0085253824000978"],"URL":"https:\/\/doi.org\/10.1016\/j.kint.2024.01.031","relation":{"erratum":[{"id-type":"doi","id":"10.1016\/j.kint.2024.05.005","asserted-by":"object"}]},"ISSN":["0085-2538"],"issn-type":[{"value":"0085-2538","type":"print"}],"subject":[],"published":{"date-parts":[[2024,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"An update on clinical presentation and responses to therapy of patients with hereditary hypophosphatemic rickets with hypercalciuria (HHRH)","name":"articletitle","label":"Article Title"},{"value":"Kidney International","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2024.01.031","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2024.05.005","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"https:\/\/doi.org\/10.1016\/j.kint.2024.02.006","name":"associatedlink","label":"CrossRef DOI link to the associated document"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 International Society of Nephrology. Published by Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}]}}