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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

Menopause 2021 Sep 1;28(9):973-997. doi: 10.1097/GME.0000000000001831. PMID: 34448749
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
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

Recent clinical studies

Etiology

ACOG Committee on Clinical Practice Guidelines–Gynecology
Obstet Gynecol 2022 Apr 1;139(4):698-717. doi: 10.1097/AOG.0000000000004730. PMID: 35594133
Yong EL, Logan S
Singapore Med J 2021 Apr;62(4):159-166. doi: 10.11622/smedj.2021036. PMID: 33948669Free 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
Black DM, Rosen CJ
N Engl J Med 2016 Jan 21;374(3):254-62. doi: 10.1056/NEJMcp1513724. PMID: 26789873
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
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
Ensrud KE, Crandall CJ
Ann Intern Med 2017 Aug 1;167(3):ITC17-ITC32. doi: 10.7326/AITC201708010. PMID: 28761958
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
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
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

Long G, Liu C, Liang T, Zhang Z, Qin Z, Zhan X
J Orthop Surg Res 2023 Aug 5;18(1):574. doi: 10.1186/s13018-023-04051-6. PMID: 37543616Free 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

Hu Y, Han J, Ding S, Liu S, Wang H
Front Endocrinol (Lausanne) 2022;13:986384. Epub 2022 Aug 29 doi: 10.3389/fendo.2022.986384. PMID: 36105394Free 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
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
Kemmler W, Shojaa M, Kohl M, von Stengel S
Calcif Tissue Int 2020 Nov;107(5):409-439. Epub 2020 Aug 12 doi: 10.1007/s00223-020-00744-w. PMID: 32785775Free PMC Article
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

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