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Increased renal tubular phosphate reabsorption

MedGen UID:
368914
Concept ID:
C1968910
Finding
Synonyms: Increased percent tubular reabsorption of phosphorus; Increased renal tubular reabsorption of phosphate
 
HPO: HP:0005571

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIncreased renal tubular phosphate reabsorption

Conditions with this feature

Tumoral calcinosis, hyperphosphatemic, familial, 1
MedGen UID:
1642611
Concept ID:
C4692564
Disease or Syndrome
Hyperphosphatemic familial tumoral calcinosis (HFTC) is characterized by: Ectopic calcifications (tumoral calcinosis) typically found in periarticular soft tissues exposed to repetitive trauma or prolonged pressure (e.g., hips, elbows, and shoulders); and Painful swellings (referred to as hyperostosis) in the areas overlying the diaphyses of the tibiae (and less often the ulna, metacarpal bones, and radius). The dental phenotype unique to HFTC includes enamel hypoplasia, short and bulbous roots, obliteration of pulp chambers and canals, and pulp stones. Less common are large and small vessel calcifications that are often asymptomatic incidental findings on radiologic studies but can also cause peripheral vascular insufficiency (e.g., pain, cold extremities, and decreased peripheral pulses). Less frequently reported findings include testicular microlithiasis and angioid streaks of the retina.

Professional guidelines

PubMed

Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D
J Clin Endocrinol Metab 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. PMID: 37097907
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Shah A
Panminerva Med 2017 Jun;59(2):124-132. doi: 10.23736/S0031-0808.17.03302-X. PMID: 28290186

Recent clinical studies

Etiology

Kaze AD, Patorno E, Paik JM
Curr Opin Nephrol Hypertens 2023 Jul 1;32(4):324-329. Epub 2023 May 9 doi: 10.1097/MNH.0000000000000887. PMID: 37195239
Emmens JE, de Borst MH, Boorsma EM, Damman K, Navis G, van Veldhuisen DJ, Dickstein K, Anker SD, Lang CC, Filippatos G, Metra M, Samani NJ, Ponikowski P, Ng LL, Voors AA, Ter Maaten JM
Clin J Am Soc Nephrol 2022 Feb;17(2):228-239. doi: 10.2215/CJN.03720321. PMID: 35131929Free PMC Article
Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Walker V
Adv Clin Chem 2019;90:133-196. Epub 2019 Apr 19 doi: 10.1016/bs.acc.2019.01.004. PMID: 31122608

Diagnosis

Marcucci G, Masi L, Ferrarì S, Haffner D, Javaid MK, Kamenický P, Reginster JY, Rizzoli R, Brandi ML
Osteoporos Int 2018 Nov;29(11):2369-2387. Epub 2018 Jul 16 doi: 10.1007/s00198-018-4618-2. PMID: 30014155
Bökenkamp A, Ludwig M
Nephron Physiol 2011;118(1):p1-6. Epub 2010 Nov 11 doi: 10.1159/000320880. PMID: 21071982
Peacock M
J Bone Miner Res 2002 Nov;17 Suppl 2:N87-94. PMID: 12412783
Laroche M
Joint Bone Spine 2001 May;68(3):211-5. doi: 10.1016/s1297-319x(01)00274-3. PMID: 11394620
Bone HG 3rd, Snyder WH 3rd, Pak CY
Annu Rev Med 1977;28:111-7. doi: 10.1146/annurev.me.28.020177.000551. PMID: 193430

Therapy

Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Shiizaki K, Tsubouchi A, Miura Y, Seo K, Kuchimaru T, Hayashi H, Iwazu Y, Miura M, Battulga B, Ohno N, Hara T, Kunishige R, Masutani M, Negishi K, Kario K, Kotani K, Yamada T, Nagata D, Komuro I, Itoh H, Kurosu H, Murata M, Kuro-O M
J Clin Invest 2021 Aug 16;131(16) doi: 10.1172/JCI145693. PMID: 34185705Free PMC Article
Balani S, Perwad F
Curr Opin Nephrol Hypertens 2020 Sep;29(5):531-536. doi: 10.1097/MNH.0000000000000631. PMID: 32701599
Shah A
Panminerva Med 2017 Jun;59(2):124-132. doi: 10.23736/S0031-0808.17.03302-X. PMID: 28290186

Prognosis

Marzuillo P, Iafusco D, Guarino S, Di Sessa A, Zanfardino A, Piscopo A, Luongo C, Capalbo D, Verde M, Aiello F, Festa A, Miraglia Del Giudice E, Grandone A
Pediatr Res 2023 Aug;94(2):632-642. Epub 2023 Jan 31 doi: 10.1038/s41390-023-02494-5. PMID: 36721033Free PMC Article
Sakaguchi Y
Clin Exp Nephrol 2022 May;26(5):379-384. Epub 2022 Jan 25 doi: 10.1007/s10157-022-02182-4. PMID: 35076791Free PMC Article
Shiizaki K, Tsubouchi A, Miura Y, Seo K, Kuchimaru T, Hayashi H, Iwazu Y, Miura M, Battulga B, Ohno N, Hara T, Kunishige R, Masutani M, Negishi K, Kario K, Kotani K, Yamada T, Nagata D, Komuro I, Itoh H, Kurosu H, Murata M, Kuro-O M
J Clin Invest 2021 Aug 16;131(16) doi: 10.1172/JCI145693. PMID: 34185705Free PMC Article
Masaki H, Imanishi Y, Naka H, Nagata Y, Kurajoh M, Mori K, Emoto M, Miki T, Inaba M
J Bone Miner Metab 2020 May;38(3):405-411. Epub 2020 Jan 2 doi: 10.1007/s00774-019-01073-1. PMID: 31897746
Raj VM, Freundlich M, Hamideh D, Alvarez O, Seeherunvong W, Abitbol C, Katsoufis C, Chandar J, Ruiz P, Zilleruelo G
Pediatr Blood Cancer 2014 Dec;61(12):2267-70. Epub 2014 Aug 17 doi: 10.1002/pbc.25188. PMID: 25132581

Clinical prediction guides

Ewert A, Rehberg M, Schlingmann KP, Hiort O, John-Kroegel U, Metzing O, Wühl E, Schaefer F, Kemper MJ, Derichs U, Richter-Unruh A, Patzer L, Albers N, Dunstheimer D, Haberland H, Heger S, Schröder C, Jorch N, Schmid E, Staude H, Weitz M, Freiberg C, Leifheit-Nestler M, Zivicnjak M, Schnabel D, Haffner D
J Clin Endocrinol Metab 2023 Sep 18;108(10):e998-e1006. doi: 10.1210/clinem/dgad223. PMID: 37097907
Emmens JE, de Borst MH, Boorsma EM, Damman K, Navis G, van Veldhuisen DJ, Dickstein K, Anker SD, Lang CC, Filippatos G, Metra M, Samani NJ, Ponikowski P, Ng LL, Voors AA, Ter Maaten JM
Clin J Am Soc Nephrol 2022 Feb;17(2):228-239. doi: 10.2215/CJN.03720321. PMID: 35131929Free PMC Article
Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Masaki H, Imanishi Y, Naka H, Nagata Y, Kurajoh M, Mori K, Emoto M, Miki T, Inaba M
J Bone Miner Metab 2020 May;38(3):405-411. Epub 2020 Jan 2 doi: 10.1007/s00774-019-01073-1. PMID: 31897746
Vezzoli G, Macrina L, Magni G, Arcidiacono T
Urolithiasis 2019 Feb;47(1):23-33. Epub 2018 Nov 16 doi: 10.1007/s00240-018-1096-0. PMID: 30446806

Recent systematic reviews

Smith S, Remmington T
Cochrane Database Syst Rev 2021 Oct 7;10(10):CD004447. doi: 10.1002/14651858.CD004447.pub3. PMID: 34618915Free PMC Article
Kooijmans EC, Bökenkamp A, Tjahjadi NS, Tettero JM, van Dulmen-den Broeder E, van der Pal HJ, Veening MA
Cochrane Database Syst Rev 2019 Mar 11;3(3):CD008944. doi: 10.1002/14651858.CD008944.pub3. PMID: 30855726Free PMC Article
Knijnenburg SL, Mulder RL, Schouten-Van Meeteren AY, Bökenkamp A, Blufpand H, van Dulmen-den Broeder E, Veening MA, Kremer LC, Jaspers MW
Cochrane Database Syst Rev 2013 Oct 8;(10):CD008944. doi: 10.1002/14651858.CD008944.pub2. PMID: 24101439
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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