X-Linked Hypophosphatemia: A New Era in Management.

FGF23-related hypophosphatemia X-linked hypophosphatemia XLH burosumab hypophosphatemic rickets osteomalacia

Journal

Journal of the Endocrine Society
ISSN: 2472-1972
Titre abrégé: J Endocr Soc
Pays: United States
ID NLM: 101697997

Informations de publication

Date de publication:
01 Dec 2020
Historique:
received: 29 06 2020
accepted: 07 10 2020
entrez: 18 11 2020
pubmed: 19 11 2020
medline: 19 11 2020
Statut: epublish

Résumé

X-linked hypophosphatemia (XLH) is a rare, hereditary, progressive musculoskeletal disease that often causes pain and short stature, as well as decreased physical function, mobility, and quality of life. Hypophosphatemia in XLH is caused by loss of function mutations in the phosphate-regulating endopeptidase homolog X-linked (

Identifiants

pubmed: 33204932
doi: 10.1210/jendso/bvaa151
pii: bvaa151
pmc: PMC7649833
doi:

Types de publication

Journal Article Review

Langues

eng

Pagination

bvaa151

Commentaires et corrections

Type : ErratumIn

Informations de copyright

© The Author(s) 2020. Published by Oxford University Press on behalf of the Endocrine Society.

Références

Endocr J. 2015;62(9):811-6
pubmed: 26135520
JBMR Plus. 2019 May 13;3(8):e10190
pubmed: 31485552
Calcif Tissue Int. 2010 Aug;87(2):108-19
pubmed: 20524110
Bone. 2009 Oct;45(4):814-6
pubmed: 19555782
Restor Dent Endod. 2017 May;42(2):146-151
pubmed: 28503481
J Bone Miner Res. 2015 Jan;30(1):137-43
pubmed: 25042154
Lancet. 2019 Jun 15;393(10189):2416-2427
pubmed: 31104833
Clin J Am Soc Nephrol. 2009 Nov;4(11):1866-77
pubmed: 19808223
J Bone Miner Res. 2018 Aug;33(8):1383-1393
pubmed: 29947083
Endocr Connect. 2014 Mar 14;3(1):R13-30
pubmed: 24550322
Dan Med J. 2014 Jul;61(7):A4874
pubmed: 25123121
J Hepatol. 2012 Dec;57(6):1379-90
pubmed: 22878466
Skeletal Radiol. 1991;20(2):109-14
pubmed: 2020857
Eur J Endocrinol. 2016 Mar;174(3):325-33
pubmed: 26783348
Pediatr Dent. 1991 Mar-Apr;13(2):91-6
pubmed: 1652746
J Pediatr. 1981 Jul;99(1):16-25
pubmed: 6265614
J Pediatr. 2003 Mar;142(3):324-31
pubmed: 12640383
J Endocr Soc. 2019 May 07;3(7):1321-1334
pubmed: 31259293
Medicine (Baltimore). 1989 Nov;68(6):336-52
pubmed: 2811660
N Engl J Med. 1985 Jul 4;313(1):1-6
pubmed: 4000222
Calcif Tissue Int. 2009 Sep;85(3):235-46
pubmed: 19609735
J Clin Invest. 2003 Sep;112(5):683-92
pubmed: 12952917
FASEB J. 2016 Oct;30(10):3378-3387
pubmed: 27338702
Development. 2018 Aug 10;145(15):
pubmed: 30002128
Eur J Pediatr. 2008 May;167(5):493-9
pubmed: 18214537
Adv Exp Med Biol. 2012;728:65-83
pubmed: 22396162
Metabolism. 1990 Apr;39(4 Suppl 1):10-2
pubmed: 2157942
Am J Med. 2005 Oct;118(10):1094-101
pubmed: 16194637
Adv Ther. 2020 Feb;37(2):770-784
pubmed: 31865548
J Inherit Metab Dis. 2018 Sep;41(5):865-876
pubmed: 29460029
J Clin Endocrinol Metab. 1996 Nov;81(11):4075-80
pubmed: 8923863
Kidney Int. 2006 Feb;69(3):425-7
pubmed: 16514426
Clinics (Sao Paulo). 2010;65(10):1023-6
pubmed: 21120305
Eur J Endocrinol. 2009 Mar;160(3):491-7
pubmed: 19095780
Pediatr Nephrol. 2013 Apr;28(4):595-603
pubmed: 23179196
Pediatr Clin North Am. 1997 Apr;44(2):443-66
pubmed: 9130929
Pediatr Radiol. 2013 Jan;43(2):140-51
pubmed: 23208530
Osteoporos Int. 2018 Nov;29(11):2369-2387
pubmed: 30014155
Orphanet J Rare Dis. 2019 Feb 26;14(1):58
pubmed: 30808384
J Bone Miner Res. 2016 May;31(5):929-39
pubmed: 26751835
J Bone Miner Metab. 2009;27(4):392-401
pubmed: 19504043
Bone. 2013 Jun;54(2):213-21
pubmed: 23403405
Eur J Endocrinol. 2016 Feb;174(2):125-36
pubmed: 26543054
Am J Med. 1964 Feb;36:222-32
pubmed: 14124689
J Hum Genet. 2012 Jul;57(7):453-8
pubmed: 22695891
J Bone Miner Res. 2019 Dec;34(12):2183-2191
pubmed: 31369697
J Bone Miner Res. 2012 Feb;27(2):453-60
pubmed: 22006791
Am J Physiol Renal Physiol. 2009 Aug;297(2):F282-91
pubmed: 19515808
J Dent Res. 2014 Jul;93(7 Suppl):7S-19S
pubmed: 24700690
Pediatr Nephrol. 2012 Nov;27(11):2039-2048
pubmed: 22552885
Clin Radiol. 1988 Sep;39(5):528-30
pubmed: 3180671
Arch Dis Child. 1982 May;57(5):359-63
pubmed: 7092291
Ann Intern Med. 1984 Feb;100(2):230-2
pubmed: 6691666
J Bone Miner Res. 2019 Mar;34(3):490-496
pubmed: 30352126
J Clin Endocrinol Metab. 2003 Aug;88(8):3591-7
pubmed: 12915641
Orphanet J Rare Dis. 2016 Nov 28;11(1):160
pubmed: 27894323
J Bone Miner Metab. 2015 Sep;33(5):467-73
pubmed: 26197863
Clin Rheumatol. 2016 May;35(5):1271-9
pubmed: 24794489
Kidney Blood Press Res. 2018;43(6):1742-1748
pubmed: 30504710
J Clin Endocrinol Metab. 2010 Apr;95(4):1846-50
pubmed: 20157195
Hum Genet. 2009 May;125(4):401-11
pubmed: 19219621
Radiology. 1989 May;171(2):403-14
pubmed: 2539609
Bone Miner. 1994 Jan;24(1):17-24
pubmed: 8186731
Nat Rev Nephrol. 2019 Jul;15(7):435-455
pubmed: 31068690
Calcif Tissue Int. 2019 Sep;105(3):271-284
pubmed: 31165191
Lancet Diabetes Endocrinol. 2019 Mar;7(3):189-199
pubmed: 30638856
Pediatr Radiol. 2013 Jan;43(2):152-72
pubmed: 23179485
N Engl J Med. 2018 May 24;378(21):1987-1998
pubmed: 29791829
J Clin Endocrinol Metab. 2012 Aug;97(8):E1492-8
pubmed: 22639288
J Bone Miner Res. 2011 Jul;26(7):1381-8
pubmed: 21538511
Joint Bone Spine. 2019 Nov;86(6):731-738
pubmed: 30711691
J Clin Endocrinol Metab. 2015 Oct;100(10):3625-32
pubmed: 26176801

Auteurs

Kathryn Dahir (K)

Endocrinology and Diabetes, Vanderbilt University Medical Center, Nashville, Tennessee.

Mary Scott Roberts (MS)

Ultragenyx Pharmaceutical Inc, Novato, California.

Stan Krolczyk (S)

Ultragenyx Pharmaceutical Inc, Novato, California.

Jill H Simmons (JH)

Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee.

Classifications MeSH