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Familial Hypophosphatemias

MedGen UID:
5713
•Concept ID:
C0020631
•
Disease or Syndrome
Synonyms: Familial Hypophosphatemia; Hypophosphatemia, Familial; Hypophosphatemias, Familial

Definition

An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME. [from MeSH]

Professional guidelines

PubMed

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article

Recent clinical studies

Etiology

Interdisciplinary management of FGF23-related phosphate wasting syndromes: a Consensus Statement on the evaluation, diagnosis and care of patients with X-linked hypophosphataemia.
Trombetti A, Al-Daghri N, Brandi ML, Cannata-Andía JB, Cavalier E, Chandran M, Chaussain C, Cipullo L, Cooper C, Haffner D, Harvengt P, Harvey NC, Javaid MK, Jiwa F, Kanis JA, Laslop A, Laurent MR, Linglart A, Marques A, Mindler GT, Minisola S, Yerro MCP, Rosa MM, Seefried L, Vlaskovska M, Zanchetta MB, Rizzoli R
Nat Rev Endocrinol 2022 Jun;18(6):366-384. Epub 2022 Apr 28 doi: 10.1038/s41574-022-00662-x. PMID: 35484227
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R
Kidney Int 2019 Dec;96(6):1408-1416. Epub 2019 Sep 16 doi: 10.1016/j.kint.2019.08.027. PMID: 31672324
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
A clinician's guide to X-linked hypophosphatemia.
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL
J Bone Miner Res 2011 Jul;26(7):1381-8. Epub 2011 May 2 doi: 10.1002/jbmr.340. PMID: 21538511Free PMC Article

Diagnosis

Approach to Hypophosphatemic Rickets.
Ackah SA, Imel EA
J Clin Endocrinol Metab 2022 Dec 17;108(1):209-220. doi: 10.1210/clinem/dgac488. PMID: 35981346Free PMC Article
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner D, Emma F, Eastwood DM, Duplan MB, Bacchetta J, Schnabel D, Wicart P, Bockenhauer D, Santos F, Levtchenko E, Harvengt P, Kirchhoff M, Di Rocco F, Chaussain C, Brandi ML, Savendahl L, Briot K, Kamenicky P, Rejnmark L, Linglart A
Nat Rev Nephrol 2019 Jul;15(7):435-455. doi: 10.1038/s41581-019-0152-5. PMID: 31068690Free PMC Article
A clinician's guide to X-linked hypophosphatemia.
Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL
J Bone Miner Res 2011 Jul;26(7):1381-8. Epub 2011 May 2 doi: 10.1002/jbmr.340. PMID: 21538511Free PMC Article

Therapy

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
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
Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent MR, De Schepper J, Trouet D, Godefroid N, Boros E, Heinrichs C, Bravenboer B, Velkeniers B, Lammens J, Harvengt P, Cavalier E, Kaux JF, Lombet J, De Waele K, Verroken C, van Hoeck K, Mortier GR, Levtchenko E, Vande Walle J
Front Endocrinol (Lausanne) 2021;12:641543. Epub 2021 Mar 19 doi: 10.3389/fendo.2021.641543. PMID: 33815294Free PMC Article
FGF23-related hypophosphatemic rickets/osteomalacia: diagnosis and new treatment.
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
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

Prognosis

Approach to Hypophosphatemic Rickets.
Ackah SA, Imel EA
J Clin Endocrinol Metab 2022 Dec 17;108(1):209-220. doi: 10.1210/clinem/dgac488. PMID: 35981346Free PMC Article
X-linked hypophosphatemia: Management and treatment prospects.
Lambert AS, Zhukouskaya V, Rothenbuhler A, Linglart A
Joint Bone Spine 2019 Nov;86(6):731-738. Epub 2019 Jan 31 doi: 10.1016/j.jbspin.2019.01.012. PMID: 30711691
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
Rickets in Denmark.
Beck-Nielsen SS
Dan Med J 2012 Feb;59(2):B4384. PMID: 22293055
Dent's disease.
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article

Clinical prediction guides

Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.
Ward LM, Glorieux FH, Whyte MP, Munns CF, Portale AA, Högler W, Simmons JH, Gottesman GS, Padidela R, Namba N, Cheong HI, Nilsson O, Mao M, Chen A, Skrinar A, Roberts MS, Imel EA
J Clin Endocrinol Metab 2022 Jul 14;107(8):e3241-e3253. doi: 10.1210/clinem/dgac296. PMID: 35533340Free PMC Article
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
Linglart A, Imel EA, Whyte MP, Portale AA, Högler W, Boot AM, Padidela R, Van't Hoff W, Gottesman GS, Chen A, Skrinar A, Scott Roberts M, Carpenter TO
J Clin Endocrinol Metab 2022 Feb 17;107(3):813-824. doi: 10.1210/clinem/dgab729. PMID: 34636899Free PMC Article
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults.
Hureaux M, Ashton E, Dahan K, Houillier P, Blanchard A, Cormier C, Koumakis E, Iancu D, Belge H, Hilbert P, Rotthier A, Del Favero J, Schaefer F, Kleta R, Bockenhauer D, Jeunemaitre X, Devuyst O, Walsh SB, Vargas-Poussou R
Kidney Int 2019 Dec;96(6):1408-1416. Epub 2019 Sep 16 doi: 10.1016/j.kint.2019.08.027. PMID: 31672324
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
CYP2R1 mutations causing vitamin D-deficiency rickets.
Thacher TD, Levine MA
J Steroid Biochem Mol Biol 2017 Oct;173:333-336. Epub 2016 Jul 27 doi: 10.1016/j.jsbmb.2016.07.014. PMID: 27473561

Recent systematic reviews

Genotypic Spectrum and its Correlation with Alopecia and Clinical Response in Hereditary Vitamin D Resistant Rickets: Our Experience and Systematic Review.
Dodamani MH, Lila AR, Memon SS, Sarathi V, Arya S, Rane A, Sehemby MK, Garg R, Bhandare VV, Karlekar M, Patil VA, Kunwar A, Bandgar TR
Calcif Tissue Int 2023 Apr;112(4):483-492. Epub 2023 Jan 27 doi: 10.1007/s00223-023-01061-8. PMID: 36705686
Recombinant growth hormone therapy for X-linked hypophosphatemia in children.
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.
Dodamani MH, Sehemby M, Memon SS, Sarathi V, Lila AR, Chapla A, Bhandare VV, Patil VA, Shah NS, Thomas N, Kunwar A, Bandgar TR
J Pediatr Endocrinol Metab 2021 Dec 20;34(12):1505-1513. Epub 2021 Sep 8 doi: 10.1515/jpem-2021-0403. PMID: 34492747
Burden of disease associated with X-linked hypophosphataemia in adults: a systematic literature review.
Seefried L, Smyth M, Keen R, Harvengt P
Osteoporos Int 2021 Jan;32(1):7-22. Epub 2020 Jul 24 doi: 10.1007/s00198-020-05548-0. PMID: 32710160Free PMC Article
Recombinant growth hormone therapy for X-linked hypophosphatemia in children.
Huiming Y, Chaomin W
Cochrane Database Syst Rev 2005 Jan 25;(1):CD004447. doi: 10.1002/14651858.CD004447.pub2. PMID: 15674949

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