Tieder M, Modai D, Samuel R et al (1985) Hereditary hypophosphatemic rickets with hypercalciuria. N Engl J Med 312:611–617. https://doi.org/10.1056/NEJM198503073121003

Article  CAS  PubMed  Google Scholar 

Ichikawa S, Sorenson AH, Imel EA et al (2006) Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 91:4022–4027. https://doi.org/10.1210/jc.2005-2840

Article  CAS  PubMed  Google Scholar 

Suda T, Takahashi N, Abe E (1992) Role of vitamin D in bone resorption. J Cell Biochem 49:53–58. https://doi.org/10.1002/jcb.240490110

Article  CAS  PubMed  Google Scholar 

Bergwitz C, Miyamoto K-I (2019) Hereditary hypophosphatemic rickets with hypercalciuria: pathophysiology, clinical presentation, diagnosis and therapy. Pflugers Arch 471:149–163. https://doi.org/10.1007/s00424-018-2184-2

Article  CAS  PubMed  Google Scholar 

Gordon RJ, Li D, Doyle D et al (2020) Digenic heterozygous mutations in SLC34A3 and SLC34A1 cause dominant hypophosphatemic rickets with hypercalciuria. J Clin Endocrinol Metab 105:2392–2400. https://doi.org/10.1210/clinem/dgaa217

Article  PubMed  PubMed Central  Google Scholar 

Dasgupta D, Wee MJ, Reyes M et al (2014) Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. J Am Soc Nephrol 25:2366–2375. https://doi.org/10.1681/ASN.2013101085

Article  CAS  PubMed  PubMed Central  Google Scholar 

Christensen S, Tebben PJ, Sas D, Creo AL (2021) Variable clinical presentation of children with hereditary hypophosphatemic rickets with hypercalciuria: a case series and review of the literature. Horm Res Paediatr 94:374–389. https://doi.org/10.1159/000520299

Article  CAS  PubMed  Google Scholar 

Bhadada SK, Sridhar S, Dhiman V et al (2020) Hypophosphatemic rickets with hypercalciuria: a novel homozygous mutation in SLC34A3 and literature review. AACE Clin Case Rep 6:e105–e112. https://doi.org/10.4158/ACCR-2019-0456

Article  PubMed  PubMed Central  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) 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. Genet Med Off J Am Coll Med Genet 17:405–424. https://doi.org/10.1038/gim.2015.30

Article  Google Scholar 

Florenzano P, Cipriani C, Roszko KL et al (2020) Approach to patients with hypophosphataemia. Lancet Diabetes Endocrinol 8:163–174. https://doi.org/10.1016/S2213-8587(19)30426-7

Article  CAS  PubMed  Google Scholar 

Sargent JD, Stukel TA, Kresel J, Klein RZ (1993) Normal values for random urinary calcium to creatinine ratios in infancy. J Pediatr 123:393–397. https://doi.org/10.1016/s0022-3476(05)81738-x

Article  CAS  PubMed  Google Scholar 

Bertholet-Thomas A, Tram N, Dubourg L et al (2019) Fluconazole as a new therapeutic tool to manage patients with NPTIIc (SLC34A3) mutation: a case report. Am J Kidney Dis Off J Natl Kidney Found 73:886–889. https://doi.org/10.1053/j.ajkd.2018.12.026

Article  Google Scholar 

Schönauer R, Petzold F, Lucinescu W et al (2019) Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting. Urolithiasis 47:511–519. https://doi.org/10.1007/s00240-019-01116-2

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen A, Ro H, Mundra VRR et al (2019) Description of 5 novel SLC34A3/NPT2c mutations causing hereditary hypophosphatemic rickets with hypercalciuria. Kidney Int Rep 4:1179–1186. https://doi.org/10.1016/j.ekir.2019.05.004

Article  PubMed  PubMed Central  Google Scholar 

Hanna C, Potretzke TA, Chedid M et al (2022) Kidney cysts in hypophosphatemic rickets with hypercalciuria: a case series. Kidney Med 4:100419. https://doi.org/10.1016/j.xkme.2022.100419

Article  PubMed  PubMed Central  Google Scholar 

Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P et al (2014) Raine syndrome: an overview. Eur J Med Genet 57:536–542. https://doi.org/10.1016/j.ejmg.2014.07.001

Article  PubMed  Google Scholar 

Braithwaite V, Pettifor JM, Prentice A (2013) Novel SLC34A3 mutation causing hereditary hypophosphataemic rickets with hypercalciuria in a Gambian family. Bone 53:216–220. https://doi.org/10.1016/j.bone.2012.12.003

Article  CAS  PubMed  PubMed Central  Google Scholar 

Prié D, Forand A, Francoz C et al (2013) Plasma fibroblast growth factor 23 concentration is increased and predicts mortality in patients on the liver-transplant waiting list. PLoS ONE 8:e66182. https://doi.org/10.1371/journal.pone.0066182

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kumar P, Liu Y, Shen Y et al (2022) Mouse liver injury induces hepatic macrophage FGF23 production. PLoS ONE 17:e0264743. https://doi.org/10.1371/journal.pone.0264743

Article  CAS  PubMed  PubMed Central  Google Scholar 

He X, Shen Y, Ma X et al (2018) The association of serum FGF23 and non-alcoholic fatty liver disease is independent of vitamin D in type 2 diabetes patients. Clin Exp Pharmacol Physiol 45:668–674. https://doi.org/10.1111/1440-1681.12933

Article  CAS  PubMed  Google Scholar 

Nwachukwu C, Singh G, Moore B, et al (2023) Risk of nephrolithiasis in adults heterozygous for SLC34A3 Ser192Leu in an unselected health system cohort. Nephrology

Stürznickel J, Heider F, Delsmann A et al (2022) Clinical spectrum of hereditary hypophosphatemic rickets with hypercalciuria (HHRH). J Bone Miner Res Off J Am Soc Bone Miner Res 37:1580–1591. https://doi.org/10.1002/jbmr.4630

Article  CAS  Google Scholar 

Gazit D, Tieder M, Liberman UA et al (1991) Osteomalacia in hereditary hypophosphatemic rickets with hypercalciuria: a correlative clinical-histomorphometric study. J Clin Endocrinol Metab 72:229–235. https://doi.org/10.1210/jcem-72-1-229

Article  CAS  PubMed  Google Scholar 

Yamamoto T, Michigami T, Aranami F et al (2007) Hereditary hypophosphatemic rickets with hypercalciuria: a study for the phosphate transporter gene type IIc and osteoblastic function. J Bone Miner Metab 25:407–413. https://doi.org/10.1007/s00774-007-0776-6

Article  PubMed  Google Scholar 

Dreimane D, Chen A, Bergwitz C (2020) Description of a novel SLC34A3c671delT mutation causing hereditary hypophosphatemic rickets with hypercalciuria in two adolescent boys and response to recombinant human growth hormone. Ther Adv Musculoskelet Dis 12:1759720X20912862. https://doi.org/10.1177/1759720X20912862

Article  CAS  PubMed  PubMed Central  Google Scholar