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Hypophosphatemic Rickets, Dominant

MedGen UID:
893423
•Concept ID:
CN239437
•
Disease or Syndrome

Professional guidelines

PubMed

Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.
Liu C, Li X, Zhao Z, Chi Y, Cui L, Zhang Q, Ping F, Chai X, Jiang Y, Wang O, Li M, Xing X, Xia W
Osteoporos Int 2021 Apr;32(4):737-745. Epub 2020 Sep 30 doi: 10.1007/s00198-020-05649-w. PMID: 32995940
Two novel variants of the PHEX gene in patients with X‑linked dominant hypophosphatemic rickets and prenatal diagnosis for fetuses in these families.
Liao H, Zhu HM, Liu HQ, Li LP, Liu SL, Wang H
Int J Mol Med 2018 Apr;41(4):2012-2020. Epub 2018 Jan 18 doi: 10.3892/ijmm.2018.3402. PMID: 29393334Free PMC Article
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.
Rafaelsen S, Johansson S, Ræder H, Bjerknes R
Eur J Endocrinol 2016 Feb;174(2):125-36. Epub 2015 Nov 5 doi: 10.1530/EJE-15-0515. PMID: 26543054Free PMC Article

Recent clinical studies

Etiology

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
Mameli C, Sangiorgio A, Colombo V, Gambino M, Spaccini L, Cattaneo E, Zuccotti GV
Int J Environ Res Public Health 2021 Aug 19;18(16) doi: 10.3390/ijerph18168771. PMID: 34444516Free PMC Article
Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.
Tavana N, Thilakavathy K, Kennerson ML, Ting TH
Endokrynol Pol 2021;72(4):366-394. Epub 2021 Jul 22 doi: 10.5603/EP.a2021.0062. PMID: 34292571
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Hypophosphatemic Rickets.
Bitzan M, Goodyer PR
Pediatr Clin North Am 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004. PMID: 30454743
Hypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.
Goldsweig BK, Carpenter TO
Curr Osteoporos Rep 2015 Apr;13(2):88-97. doi: 10.1007/s11914-015-0259-y. PMID: 25620749

Diagnosis

Mineralized tissues in hypophosphatemic rickets.
Robinson ME, AlQuorain H, Murshed M, Rauch F
Pediatr Nephrol 2020 Oct;35(10):1843-1854. Epub 2019 Aug 8 doi: 10.1007/s00467-019-04290-y. PMID: 31392510
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Hypophosphatemic Rickets.
Bitzan M, Goodyer PR
Pediatr Clin North Am 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004. PMID: 30454743
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
Hypophosphatemic rickets.
Drezner MK
Endocr Dev 2003;6:126-55. doi: 10.1159/000072774. PMID: 12964430

Therapy

Phosphatonins: From Discovery to Therapeutics.
Kritmetapak K, Kumar R
Endocr Pract 2023 Jan;29(1):69-79. Epub 2022 Oct 7 doi: 10.1016/j.eprac.2022.09.007. PMID: 36210014
Rickets, Vitamin D, and Ca/P Metabolism.
Miller WL, Imel EA
Horm Res Paediatr 2022;95(6):579-592. Epub 2022 Nov 29 doi: 10.1159/000527011. PMID: 36446330
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Hypophosphatemic Rickets.
Bitzan M, Goodyer PR
Pediatr Clin North Am 2019 Feb;66(1):179-207. doi: 10.1016/j.pcl.2018.09.004. PMID: 30454743
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Prognosis

Identification of six novel variants from nine Chinese families with hypophosphatemic rickets.
Cao Y, You Y, Wang Q, Ren X, Li S, Li L, Xia W, Guan X, Yang T, Ikegawa S, Wang Z, Zhao X
BMC Med Genomics 2022 Jul 16;15(1):161. doi: 10.1186/s12920-022-01305-w. PMID: 35842615Free PMC Article
Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.
Liu C, Li X, Zhao Z, Chi Y, Cui L, Zhang Q, Ping F, Chai X, Jiang Y, Wang O, Li M, Xing X, Xia W
Osteoporos Int 2021 Apr;32(4):737-745. Epub 2020 Sep 30 doi: 10.1007/s00198-020-05649-w. PMID: 32995940
Hypophosphatemic rickets and craniosynostosis: a multicenter case series.
Vega RA, Opalak C, Harshbarger RJ, Fearon JA, Ritter AM, Collins JJ, Rhodes JL
J Neurosurg Pediatr 2016 Jun;17(6):694-700. Epub 2016 Jan 29 doi: 10.3171/2015.10.PEDS15273. PMID: 26824597
Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.
Wolf M, White KE
Curr Opin Nephrol Hypertens 2014 Jul;23(4):411-9. doi: 10.1097/01.mnh.0000447020.74593.6f. PMID: 24867675Free PMC Article
Hypophosphatemic rickets.
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197

Clinical prediction guides

Bone characteristics of autosomal dominant hypophosphatemic rickets patients.
Liu C, Ni X, Zhao Z, Qi W, Jiang Y, Li M, Wang O, Xing X, Xia W
Bone 2023 Feb;167:116602. Epub 2022 Nov 5 doi: 10.1016/j.bone.2022.116602. PMID: 36347435
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature.
Liu C, Zhao Z, Wang O, Li M, Xing X, Hsieh E, Fukumoto S, Jiang Y, Xia W
Calcif Tissue Int 2019 Nov;105(5):476-486. Epub 2019 Sep 5 doi: 10.1007/s00223-019-00597-y. PMID: 31486862
Burosumab versus conventional therapy in children with X-linked hypophosphataemia: a randomised, active-controlled, open-label, phase 3 trial.
Imel EA, Glorieux FH, Whyte MP, Munns CF, Ward LM, Nilsson O, Simmons JH, Padidela R, Namba N, Cheong HI, Pitukcheewanont P, Sochett E, Högler W, Muroya K, Tanaka H, Gottesman GS, Biggin A, Perwad F, Mao M, Chen CY, Skrinar A, San Martin J, Portale AA
Lancet 2019 Jun 15;393(10189):2416-2427. Epub 2019 May 16 doi: 10.1016/S0140-6736(19)30654-3. PMID: 31104833Free PMC Article
Fibroblast growth factor 23 and its receptors.
Yu X, White KE
Ther Apher Dial 2005 Aug;9(4):308-12. doi: 10.1111/j.1744-9987.2005.00287.x. PMID: 16076372
The wrickkened pathways of FGF23, MEPE and PHEX.
Rowe PS
Crit Rev Oral Biol Med 2004 Sep 1;15(5):264-81. doi: 10.1177/154411130401500503. PMID: 15470265Free PMC Article

Recent systematic reviews

The Effect of Iron Supplementation on FGF23 in Chronic Kidney Disease Patients: a Systematic Review and Time-Response Meta-Analysis.
Abu-Zaid A, Magzoub D, Aldehami MA, Behiry AA, Bhagavathula AS, Hajji R
Biol Trace Elem Res 2021 Dec;199(12):4516-4524. Epub 2021 Jan 18 doi: 10.1007/s12011-021-02598-1. PMID: 33462793

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