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Dominant hypophosphatemia with nephrolithiasis or osteoporosis

MedGen UID:
1680754
Concept ID:
C5191009
Disease or Syndrome
Synonym: Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis
SNOMED CT: Dominant hypophosphatemia with nephrolithiasis and/or osteoporosis (783620009)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Orphanet: ORPHA244305

Definition

A rare genetic renal tubular disease characterized by hypophosphatemia, decreased renal phosphate resorption and hypercalciuria leading to calcium nephrolithiasis and/or nephrocalcinosis and osteoporosis, in the presence of normal/increased serum calcitriol levels. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDominant hypophosphatemia with nephrolithiasis or osteoporosis

Professional guidelines

PubMed

Yong EL, Logan S
Singapore Med J 2021 Apr;62(4):159-166. doi: 10.11622/smedj.2021036. PMID: 33948669Free PMC Article
Camacho PM, Petak SM, Binkley N, Diab DL, Eldeiry LS, Farooki A, Harris ST, Hurley DL, Kelly J, Lewiecki EM, Pessah-Pollack R, McClung M, Wimalawansa SJ, Watts NB
Endocr Pract 2020 May;26(Suppl 1):1-46. doi: 10.4158/GL-2020-0524SUPPL. PMID: 32427503
Kanis JA, Cooper C, Rizzoli R, Reginster JY; Scientific Advisory Board of the European Society for Clinical and Economic Aspects of Osteoporosis (ESCEO) and the Committees of Scientific Advisors and National Societies of the International Osteoporosis Foundation (IOF)
Osteoporos Int 2019 Jan;30(1):3-44. Epub 2018 Oct 15 doi: 10.1007/s00198-018-4704-5. PMID: 30324412Free PMC Article

Recent clinical studies

Etiology

Yong EL, Logan S
Singapore Med J 2021 Apr;62(4):159-166. doi: 10.11622/smedj.2021036. PMID: 33948669Free PMC Article
Aspray TJ, Hill TR
Subcell Biochem 2019;91:453-476. doi: 10.1007/978-981-13-3681-2_16. PMID: 30888662
Kanis JA, Cooper C, Rizzoli R, Reginster JY; Scientific Advisory Board of the European Society for Clinical and Economic Aspects of Osteoporosis (ESCEO) and the Committees of Scientific Advisors and National Societies of the International Osteoporosis Foundation (IOF)
Osteoporos Int 2019 Jan;30(1):3-44. Epub 2018 Oct 15 doi: 10.1007/s00198-018-4704-5. PMID: 30324412Free PMC Article
Lane NE
Am J Obstet Gynecol 2006 Feb;194(2 Suppl):S3-11. doi: 10.1016/j.ajog.2005.08.047. PMID: 16448873
Srivastava M, Deal C
Clin Geriatr Med 2002 Aug;18(3):529-55. doi: 10.1016/s0749-0690(02)00022-8. PMID: 12424871

Diagnosis

Yong EL, Logan S
Singapore Med J 2021 Apr;62(4):159-166. doi: 10.11622/smedj.2021036. PMID: 33948669Free PMC Article
Camacho PM, Petak SM, Binkley N, Diab DL, Eldeiry LS, Farooki A, Harris ST, Hurley DL, Kelly J, Lewiecki EM, Pessah-Pollack R, McClung M, Wimalawansa SJ, Watts NB
Endocr Pract 2020 May;26(Suppl 1):1-46. doi: 10.4158/GL-2020-0524SUPPL. PMID: 32427503
Kanis JA, Cooper C, Rizzoli R, Reginster JY; Scientific Advisory Board of the European Society for Clinical and Economic Aspects of Osteoporosis (ESCEO) and the Committees of Scientific Advisors and National Societies of the International Osteoporosis Foundation (IOF)
Osteoporos Int 2019 Jan;30(1):3-44. Epub 2018 Oct 15 doi: 10.1007/s00198-018-4704-5. PMID: 30324412Free PMC Article
Lane NE
Am J Obstet Gynecol 2006 Feb;194(2 Suppl):S3-11. doi: 10.1016/j.ajog.2005.08.047. PMID: 16448873
Srivastava M, Deal C
Clin Geriatr Med 2002 Aug;18(3):529-55. doi: 10.1016/s0749-0690(02)00022-8. PMID: 12424871

Therapy

Brown JP
Endocrinol Metab (Seoul) 2021 Jun;36(3):544-552. Epub 2021 Jun 22 doi: 10.3803/EnM.2021.301. PMID: 34154042Free PMC Article
Muñoz M, Robinson K, Shibli-Rahhal A
Clin Obstet Gynecol 2020 Dec;63(4):770-787. doi: 10.1097/GRF.0000000000000572. PMID: 33017332
Camacho PM, Petak SM, Binkley N, Diab DL, Eldeiry LS, Farooki A, Harris ST, Hurley DL, Kelly J, Lewiecki EM, Pessah-Pollack R, McClung M, Wimalawansa SJ, Watts NB
Endocr Pract 2020 May;26(Suppl 1):1-46. doi: 10.4158/GL-2020-0524SUPPL. PMID: 32427503
Howe TE, Shea B, Dawson LJ, Downie F, Murray A, Ross C, Harbour RT, Caldwell LM, Creed G
Cochrane Database Syst Rev 2011 Jul 6;(7):CD000333. doi: 10.1002/14651858.CD000333.pub2. PMID: 21735380
Srivastava M, Deal C
Clin Geriatr Med 2002 Aug;18(3):529-55. doi: 10.1016/s0749-0690(02)00022-8. PMID: 12424871

Prognosis

Matsumoto T, Sone T, Soen S, Tanaka S, Yamashita A, Inoue T
J Clin Endocrinol Metab 2022 Sep 28;107(10):e4222-e4231. doi: 10.1210/clinem/dgac486. PMID: 35977548Free PMC Article
Vellanki K, Hou S
Am J Kidney Dis 2018 May;71(5):710-719. Epub 2018 Mar 9 doi: 10.1053/j.ajkd.2017.12.019. PMID: 29530509
Kendler DL, Marin F, Zerbini CAF, Russo LA, Greenspan SL, Zikan V, Bagur A, Malouf-Sierra J, Lakatos P, Fahrleitner-Pammer A, Lespessailles E, Minisola S, Body JJ, Geusens P, Möricke R, López-Romero P
Lancet 2018 Jan 20;391(10117):230-240. Epub 2017 Nov 9 doi: 10.1016/S0140-6736(17)32137-2. PMID: 29129436
Eastell R, Szulc P
Lancet Diabetes Endocrinol 2017 Nov;5(11):908-923. Epub 2017 Jul 7 doi: 10.1016/S2213-8587(17)30184-5. PMID: 28689768
Lane NE
Am J Obstet Gynecol 2006 Feb;194(2 Suppl):S3-11. doi: 10.1016/j.ajog.2005.08.047. PMID: 16448873

Clinical prediction guides

Su Y, Chen Z, Xie W
Biomed Res Int 2020;2020:6210201. Epub 2020 May 15 doi: 10.1155/2020/6210201. PMID: 32509864Free PMC Article
Camacho PM, Petak SM, Binkley N, Diab DL, Eldeiry LS, Farooki A, Harris ST, Hurley DL, Kelly J, Lewiecki EM, Pessah-Pollack R, McClung M, Wimalawansa SJ, Watts NB
Endocr Pract 2020 May;26(Suppl 1):1-46. doi: 10.4158/GL-2020-0524SUPPL. PMID: 32427503
Eastell R, Szulc P
Lancet Diabetes Endocrinol 2017 Nov;5(11):908-923. Epub 2017 Jul 7 doi: 10.1016/S2213-8587(17)30184-5. PMID: 28689768
Black DM, Rosen CJ
N Engl J Med 2016 Jan 21;374(3):254-62. doi: 10.1056/NEJMcp1513724. PMID: 26789873
Lane NE
Am J Obstet Gynecol 2006 Feb;194(2 Suppl):S3-11. doi: 10.1016/j.ajog.2005.08.047. PMID: 16448873

Recent systematic reviews

Händel MN, Cardoso I, von Bülow C, Rohde JF, Ussing A, Nielsen SM, Christensen R, Body JJ, Brandi ML, Diez-Perez A, Hadji P, Javaid MK, Lems WF, Nogues X, Roux C, Minisola S, Kurth A, Thomas T, Prieto-Alhambra D, Ferrari SL, Langdahl B, Abrahamsen B
BMJ 2023 May 2;381:e068033. doi: 10.1136/bmj-2021-068033. PMID: 37130601Free PMC Article
Ayers C, Kansagara D, Lazur B, Fu R, Kwon A, Harrod C
Ann Intern Med 2023 Feb;176(2):182-195. Epub 2023 Jan 3 doi: 10.7326/M22-0684. PMID: 36592455
Zhang S, Huang X, Zhao X, Li B, Cai Y, Liang X, Wan Q
J Clin Nurs 2022 Aug;31(15-16):2100-2111. Epub 2021 Nov 1 doi: 10.1111/jocn.16101. PMID: 34725872
Singh S, Dutta S, Khasbage S, Kumar T, Sachin J, Sharma J, Varthya SB
Osteoporos Int 2022 Jan;33(1):1-12. Epub 2021 Aug 25 doi: 10.1007/s00198-021-06095-y. PMID: 34432115Free PMC Article
Su Y, Chen Z, Xie W
Biomed Res Int 2020;2020:6210201. Epub 2020 May 15 doi: 10.1155/2020/6210201. PMID: 32509864Free PMC Article

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