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Rickets of the lower limbs

MedGen UID:
331487
•Concept ID:
C1833323
•
Finding
HPO: HP:0006463

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRickets of the lower limbs

Conditions with this feature

Vitamin D-dependent rickets, type 2B
MedGen UID:
411667
•Concept ID:
C2748783
•
Disease or Syndrome
Vitamin D-dependent rickets type 2B with normal vitamin D receptor (VDDR2B) is an unusual form of rickets due to abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. Vitamin D-dependent rickets type 2A (VDDR2A) is caused by mutation in the vitamin D receptor gene (VDR; 601769), and most patients have alopecia in addition to rickets. For a general phenotypic description and a discussion of genetic heterogeneity of rickets due to disorders in vitamin D metabolism or action, see vitamin D-dependent rickets type 1A (VDDR1A; 264700).
See: Condition Record
Vitamin D-dependent rickets, type 2B

Professional guidelines

PubMed

Diagnosis and management of tumor-induced osteomalacia: a single center experience.
Hacisahinogullari H, Tekin S, Tanrikulu S, Saribeyliler G, Yalin GY, Bilgic B, Isik EG, Salduz A, Tuncer S, Gul N, Uzum AK, Aral F, Tanakol R, Selcukbiricik OS
Endocrine 2023 Nov;82(2):427-434. Epub 2023 Jul 22 doi: 10.1007/s12020-023-03450-3. PMID: 37480497
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Treatment of hypophosphataemic rickets in children remains a challenge.
Nielsen LH, Rahbek ET, Beck-Nielsen SS, Christesen HT
Dan Med J 2014 Jul;61(7):A4874. PMID: 25123121

Recent clinical studies

Etiology

Diagnosis and management of tumor-induced osteomalacia: a single center experience.
Hacisahinogullari H, Tekin S, Tanrikulu S, Saribeyliler G, Yalin GY, Bilgic B, Isik EG, Salduz A, Tuncer S, Gul N, Uzum AK, Aral F, Tanakol R, Selcukbiricik OS
Endocrine 2023 Nov;82(2):427-434. Epub 2023 Jul 22 doi: 10.1007/s12020-023-03450-3. PMID: 37480497
The ankle in XLH: Reduced motion, power and quality of life.
Akta C, Wenzel-Schwarz F, Stauffer A, Kranzl A, Raimann A, Kocijan R, Ganger R, Mindler GT
Front Endocrinol (Lausanne) 2023;14:1111104. Epub 2023 Mar 22 doi: 10.3389/fendo.2023.1111104. PMID: 37033213Free PMC Article
Quantitative analysis of lower limb and pelvic deformities in children with X-linked hypophosphatemic rickets.
Bonnet-Lebrun A, Linglart A, De Tienda M, Ouchrif Y, Berkenou J, Assi A, Wicart P, Skalli W
Orthop Traumatol Surg Res 2023 May;109(3):103187. Epub 2021 Dec 17 doi: 10.1016/j.otsr.2021.103187. PMID: 34929395
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

Diagnosis

Diagnosis and management of tumor-induced osteomalacia: a single center experience.
Hacisahinogullari H, Tekin S, Tanrikulu S, Saribeyliler G, Yalin GY, Bilgic B, Isik EG, Salduz A, Tuncer S, Gul N, Uzum AK, Aral F, Tanakol R, Selcukbiricik OS
Endocrine 2023 Nov;82(2):427-434. Epub 2023 Jul 22 doi: 10.1007/s12020-023-03450-3. PMID: 37480497
Quantitative analysis of lower limb and pelvic deformities in children with X-linked hypophosphatemic rickets.
Bonnet-Lebrun A, Linglart A, De Tienda M, Ouchrif Y, Berkenou J, Assi A, Wicart P, Skalli W
Orthop Traumatol Surg Res 2023 May;109(3):103187. Epub 2021 Dec 17 doi: 10.1016/j.otsr.2021.103187. PMID: 34929395
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
Hypophosphatemia and growth.
Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA
Pediatr Nephrol 2013 Apr;28(4):595-603. Epub 2012 Nov 22 doi: 10.1007/s00467-012-2364-9. PMID: 23179196

Therapy

Effect of Burosumab on Muscle Function and Strength, and Rates of ATP Synthesis in Skeletal Muscle in Adults With XLH.
Insogna KL, Sullivan R, Parziale S, Deng Y, Carrano D, Simpson C, Dufour S, Carpenter T, Petersen KF
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1061-e1071. doi: 10.1210/clinem/dgad642. PMID: 37930769
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
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
Hypophosphatemia and growth.
Santos F, Fuente R, Mejia N, Mantecon L, Gil-Peña H, Ordoñez FA
Pediatr Nephrol 2013 Apr;28(4):595-603. Epub 2012 Nov 22 doi: 10.1007/s00467-012-2364-9. PMID: 23179196
Pseudo-(tumor-induced) rickets.
Whyte MP, Podgornik MN, Wollberg VA, Eddy MC, McAlister WH
J Bone Miner Res 2001 Aug;16(8):1564-71. doi: 10.1359/jbmr.2001.16.8.1564. PMID: 11499880

Prognosis

Predictive factors for recurrence after lower limb deformity correction in hypophosphatemic rickets.
Suparatchatadej C, Adulkasem N, Ariyawatkul T, Eamsobhana P, Chotigavanichaya C, Wongcharoenwatana J
J Orthop Surg Res 2023 Jul 7;18(1):488. doi: 10.1186/s13018-023-03963-7. PMID: 37420241Free PMC Article
Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study.
Mindler GT, Stauffer A, Kranzl A, Penzkofer S, Ganger R, Radler C, Haeusler G, Raimann A
Front Endocrinol (Lausanne) 2022;13:866170. Epub 2022 Mar 24 doi: 10.3389/fendo.2022.866170. PMID: 35399930Free PMC Article
Successful treatment of tumor-induced osteomalacia causing by phosphaturic mesenchymal tumor of the foot.
Liu S, Zhou X, Song A, Huo Z, Wang Y, Xia W, Liu Y
Medicine (Baltimore) 2019 Jul;98(27):e16296. doi: 10.1097/MD.0000000000016296. PMID: 31277164Free PMC Article
Description and evaluation of operative deformity correction in calcium-deficiency rickets in Kaduna, northern Nigeria.
Wesselsky V, Kitz C, Jakob F, Eulert J, Raab P
Int Orthop 2016 Apr;40(4):653-8. Epub 2015 Jul 30 doi: 10.1007/s00264-015-2911-7. PMID: 26224615
Pseudo-(tumor-induced) rickets.
Whyte MP, Podgornik MN, Wollberg VA, Eddy MC, McAlister WH
J Bone Miner Res 2001 Aug;16(8):1564-71. doi: 10.1359/jbmr.2001.16.8.1564. PMID: 11499880

Clinical prediction guides

Effect of Burosumab on Muscle Function and Strength, and Rates of ATP Synthesis in Skeletal Muscle in Adults With XLH.
Insogna KL, Sullivan R, Parziale S, Deng Y, Carrano D, Simpson C, Dufour S, Carpenter T, Petersen KF
J Clin Endocrinol Metab 2024 Feb 20;109(3):e1061-e1071. doi: 10.1210/clinem/dgad642. PMID: 37930769
The ankle in XLH: Reduced motion, power and quality of life.
Akta C, Wenzel-Schwarz F, Stauffer A, Kranzl A, Raimann A, Kocijan R, Ganger R, Mindler GT
Front Endocrinol (Lausanne) 2023;14:1111104. Epub 2023 Mar 22 doi: 10.3389/fendo.2023.1111104. PMID: 37033213Free PMC Article
Persistent Lower Limb Deformities Despite Amelioration of Rickets in X-Linked Hypophosphatemia (XLH) - A Prospective Observational Study.
Mindler GT, Stauffer A, Kranzl A, Penzkofer S, Ganger R, Radler C, Haeusler G, Raimann A
Front Endocrinol (Lausanne) 2022;13:866170. Epub 2022 Mar 24 doi: 10.3389/fendo.2022.866170. PMID: 35399930Free PMC Article
Lower Limb Deformity and Gait Deviations Among Adolescents and Adults With X-Linked Hypophosphatemia.
Mindler GT, Kranzl A, Stauffer A, Kocijan R, Ganger R, Radler C, Haeusler G, Raimann A
Front Endocrinol (Lausanne) 2021;12:754084. Epub 2021 Sep 27 doi: 10.3389/fendo.2021.754084. PMID: 34646241Free PMC Article
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

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