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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

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
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
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

Puente-Ruiz N, Docio P, Unzueta MTG, Lavín BA, Maiztegi A, Vega AI, Piedra M, Riancho-Zarrabeitia L, Mateos F, Gonzalez-Lamuño D, Valero C, Riancho JA
J Intern Med 2023 Jun;293(6):753-762. Epub 2023 Apr 16 doi: 10.1111/joim.13635. PMID: 36999651
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
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
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
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

Ackah SA, Imel EA
J Clin Endocrinol Metab 2022 Dec 17;108(1):209-220. doi: 10.1210/clinem/dgac488. PMID: 35981346Free PMC Article
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
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
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
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

Miller WL, Imel EA
Horm Res Paediatr 2022;95(6):579-592. Epub 2022 Nov 29 doi: 10.1159/000527011. PMID: 36446330
Haffner D, Leifheit-Nestler M, Grund A, Schnabel D
Pediatr Nephrol 2022 Oct;37(10):2289-2302. Epub 2022 Mar 29 doi: 10.1007/s00467-022-05505-5. PMID: 35352187Free PMC Article
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
Fukumoto S
J Mol Endocrinol 2021 Feb;66(2):R57-R65. doi: 10.1530/JME-20-0089. PMID: 33295878
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

Ross J, Bowden MR, Yu C, Diaz-Thomas A
Front Endocrinol (Lausanne) 2023;14:1137976. Epub 2023 Mar 17 doi: 10.3389/fendo.2023.1137976. PMID: 37008909Free PMC Article
Ackah SA, Imel EA
J Clin Endocrinol Metab 2022 Dec 17;108(1):209-220. doi: 10.1210/clinem/dgac488. PMID: 35981346Free PMC Article
Baroncelli GI, Toschi B, Bertelloni S
Curr Opin Endocrinol Diabetes Obes 2012 Dec;19(6):460-7. doi: 10.1097/MED.0b013e328358be97. PMID: 23108197
Beck-Nielsen SS
Dan Med J 2012 Feb;59(2):B4384. PMID: 22293055
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

Marques JVO, Moreira CA, Borba VZC
Arch Endocrinol Metab 2022 Nov 11;66(5):658-665. doi: 10.20945/2359-3997000000555. PMID: 36382755Free PMC Article
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
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
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
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

Recent systematic reviews

Wang S, Wang X, He M, Li Y, Xiao M, Ma H
J Clin Endocrinol Metab 2023 Dec 21;109(1):293-302. doi: 10.1210/clinem/dgad440. PMID: 37497620
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
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
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
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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