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Decreased renal tubular phosphate excretion

MedGen UID:
409704
Concept ID:
C1968899
Finding
HPO: HP:0005572

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased renal tubular phosphate excretion

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

Mashingaidze-Mano R, Bwakura-Dangarembizi MF, Maponga CC, Morse GD, Monera-Penduka TG, Mtisi TJ, Mudzviti T, Mujuru HA
PLoS One 2020;15(7):e0235759. Epub 2020 Jul 7 doi: 10.1371/journal.pone.0235759. PMID: 32634168Free PMC Article
Caballero D, Li Y, Fetene J, Ponsetto J, Chen A, Zhu C, Braddock DT, Bergwitz C
PLoS One 2017;12(7):e0180098. Epub 2017 Jul 13 doi: 10.1371/journal.pone.0180098. PMID: 28704395Free PMC Article
Dent CE, Stamp TC
Arch Dis Child 1970 Dec;45(244):735-45. doi: 10.1136/adc.45.244.735. PMID: 5491877Free PMC Article

Recent clinical studies

Etiology

Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990Free PMC Article
Packer M
J Am Coll Cardiol 2024 Jan 16;83(2):371-381. doi: 10.1016/j.jacc.2023.10.030. PMID: 38199714
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
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
Khositseth S, Sudjaritjan N, Tananchai P, Ong-ajyuth S, Sitprija V, Thongboonkerd V
Nephrol Dial Transplant 2008 Mar;23(3):952-8. Epub 2007 Oct 19 doi: 10.1093/ndt/gfm698. PMID: 17951309

Diagnosis

Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990Free PMC Article
Assadi F
Iran J Kidney Dis 2010 Jul;4(3):195-201. PMID: 20622306
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
Sorensen E, Flodgaard H
Acta Med Scand 1975 May;197(5):357-60. doi: 10.1111/j.0954-6820.1975.tb04934.x. PMID: 167553

Therapy

Packer M
J Am Coll Cardiol 2024 Jan 16;83(2):371-381. doi: 10.1016/j.jacc.2023.10.030. PMID: 38199714
King AJ, Siegel M, He Y, Nie B, Wang J, Koo-McCoy S, Minassian NA, Jafri Q, Pan D, Kohler J, Kumaraswamy P, Kozuka K, Lewis JG, Dragoli D, Rosenbaum DP, O'Neill D, Plain A, Greasley PJ, Jönsson-Rylander AC, Karlsson D, Behrendt M, Strömstedt M, Ryden-Bergsten T, Knöpfel T, Pastor Arroyo EM, Hernando N, Marks J, Donowitz M, Wagner CA, Alexander RT, Caldwell JS
Sci Transl Med 2018 Aug 29;10(456) doi: 10.1126/scitranslmed.aam6474. PMID: 30158152Free PMC Article
Folsom LJ, Imel EA
Curr Osteoporos Rep 2015 Apr;13(2):78-87. doi: 10.1007/s11914-015-0254-3. PMID: 25656441
Maggi P, Montinaro V, Mussini C, Di Biagio A, Bellagamba R, Bonfanti P, Calza L, Cherubini C, Corsi P, Gargiulo M, Montella F, Rusconi S
AIDS Rev 2014 Jul-Sep;16(3):144-51. PMID: 25102336
Sorensen E, Flodgaard H
Acta Med Scand 1975 May;197(5):357-60. doi: 10.1111/j.0954-6820.1975.tb04934.x. PMID: 167553

Prognosis

Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990Free PMC Article
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
Patamatamkul S, Songumpai N, Payoong P, Katavetin P, Putcharoen O
HIV Res Clin Pract 2022 Aug 19;23(1):99-106. PMID: 36065999
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
Santamaría R, Díaz-Tocados JM, Pendón-Ruiz de Mier MV, Robles A, Salmerón-Rodríguez MD, Ruiz E, Vergara N, Aguilera-Tejero E, Raya A, Ortega R, Felsenfeld A, Muñoz-Castañeda JR, Martín-Malo A, Aljama P, Rodríguez M
Sci Rep 2018 Sep 12;8(1):13701. doi: 10.1038/s41598-018-32065-2. PMID: 30209259Free PMC Article

Clinical prediction guides

Zhu Z, Bo-Ran Ho B, Chen A, Amrhein J, Apetrei A, Carpenter TO, Lazaretti-Castro M, Colazo JM, McCrystal Dahir K, Geßner M, Gurevich E, Heier CA, Simmons JH, Hunley TE, Hoppe B, Jacobsen C, Kouri A, Ma N, Majumdar S, Molin A, Nokoff N, Ott SM, Peña HG, Santos F, Tebben P, Topor LS, Deng Y, Bergwitz C
Kidney Int 2024 May;105(5):1058-1076. Epub 2024 Feb 15 doi: 10.1016/j.kint.2024.01.031. PMID: 38364990Free PMC Article
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
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
Krieger NS, Frick KK, Bushinsky DA
Curr Opin Nephrol Hypertens 2004 Jul;13(4):423-36. doi: 10.1097/01.mnh.0000133975.32559.6b. PMID: 15199293

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