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Impaired renal tubular reabsorption of phosphate

MedGen UID:
1815096
•Concept ID:
C5706190
•
Pathologic Function
HPO: HP:0034359

Definition

Increased fractional excretion (FE) of glucose in the phosphate. The FE of glucose is the percentage of the phosphate filtered by the kidney which is excreted in the urine. It is measured in terms of plasma and urine phosphate, rather than by the interpretation of urinary phosphate concentration alone, as urinary glucose concentrations can vary with water reabsorption. [from HPO]

Term Hierarchy

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

Conditions with this feature

Fanconi renotubular syndrome 1
MedGen UID:
1635492
•Concept ID:
C4551503
•
Disease or Syndrome
See: Condition Record
Fanconi renotubular syndrome 1

Professional guidelines

PubMed

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Early and late adverse renal effects after potentially nephrotoxic treatment for childhood cancer.
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

Recent clinical studies

Etiology

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
Euthyroid sick syndrome and its association with complications of type 1 diabetes mellitus onset.
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
The emerging role of magnesium in CKD.
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
Genetic Causes of Rickets.
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article
Calcium and osteoporosis.
Nordin BE
Nutrition 1997 Jul-Aug;13(7-8):664-86. doi: 10.1016/s0899-9007(97)83011-0. PMID: 9263260

Diagnosis

Prospective Evaluation of Kidney Function in Long-Term Survivors of Pediatric CNS Tumors.
Stepien N, Handler V, Gojo J, Azizi AA, Mayr L, Grylli C, Schwarz D, Chocholous M, Slavc I, Boehm M, Peyrl A
Curr Oncol 2022 Jul 28;29(8):5306-5315. doi: 10.3390/curroncol29080421. PMID: 36005159Free PMC Article
X-linked hypophosphatemia and burosumab: Practical clinical points from the French experience.
Bacchetta J, Rothenbuhler A, Gueorguieva I, Kamenicky P, Salles JP, Briot K, Linglart A
Joint Bone Spine 2021 Oct;88(5):105208. Epub 2021 Jun 6 doi: 10.1016/j.jbspin.2021.105208. PMID: 34102329
Early and late adverse renal effects after potentially nephrotoxic treatment for childhood cancer.
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
Long-term renal function and hypertension in adult survivors of childhood sarcoma: Single center experience.
Schiavetti A, Pedetti V, Varrasso G, Marrucci O, Celani C, Andreoli G, Bonci E
Pediatr Hematol Oncol 2018 Apr;35(3):167-176. Epub 2018 Sep 19 doi: 10.1080/08880018.2018.1476941. PMID: 30230941
Genetic Causes of Rickets.
Acar S, Demir K, Shi Y
J Clin Res Pediatr Endocrinol 2017 Dec 30;9(Suppl 2):88-105. Epub 2017 Dec 27 doi: 10.4274/jcrpe.2017.S008. PMID: 29280738Free PMC Article

Therapy

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
The emerging role of magnesium in CKD.
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
X-Linked Hypophosphatemic Rickets: Multisystemic Disorder in Children Requiring Multidisciplinary Management.
Baroncelli GI, Mora S
Front Endocrinol (Lausanne) 2021;12:688309. Epub 2021 Aug 6 doi: 10.3389/fendo.2021.688309. PMID: 34421819Free PMC Article
Long-term renal function and hypertension in adult survivors of childhood sarcoma: Single center experience.
Schiavetti A, Pedetti V, Varrasso G, Marrucci O, Celani C, Andreoli G, Bonci E
Pediatr Hematol Oncol 2018 Apr;35(3):167-176. Epub 2018 Sep 19 doi: 10.1080/08880018.2018.1476941. PMID: 30230941
Saccharated ferric oxide-induced osteomalacia in Japan: iron-induced osteopathy due to nephropathy.
Sato K, Shiraki M
Endocr J 1998 Aug;45(4):431-9. doi: 10.1507/endocrj.45.431. PMID: 9881891

Prognosis

Euthyroid sick syndrome and its association with complications of type 1 diabetes mellitus onset.
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
The emerging role of magnesium in CKD.
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
Long-term renal function and hypertension in adult survivors of childhood sarcoma: Single center experience.
Schiavetti A, Pedetti V, Varrasso G, Marrucci O, Celani C, Andreoli G, Bonci E
Pediatr Hematol Oncol 2018 Apr;35(3):167-176. Epub 2018 Sep 19 doi: 10.1080/08880018.2018.1476941. PMID: 30230941
Renal safety of tenofovir in HIV-infected children: a prospective, 96-week longitudinal study.
Viganò A, Zuccotti GV, Martelli L, Giacomet V, Cafarelli L, Borgonovo S, Beretta S, Rombolà G, Mora S
Clin Drug Investig 2007;27(8):573-81. doi: 10.2165/00044011-200727080-00006. PMID: 17638398
Tubular function and histological findings in ifosfamide-induced renal Fanconi syndrome--a report of two cases.
Rossi R, Helmchen U, Schellong G
Eur J Pediatr 1992 May;151(5):384-7. doi: 10.1007/BF02113264. PMID: 1396897

Clinical prediction guides

Repurposing SGLT2 inhibitors: Treatment of renal proximal tubulopathy in Fanconi-Bickel syndrome with empagliflozin.
Overduin RJ, Grünert SC, Besouw MTP, Bolhuis MS, Groen J, Schreuder AB, Woidy M, Murko S, Santer R, Derks TGJ
J Inherit Metab Dis 2024 Sep;47(5):1018-1027. Epub 2024 May 27 doi: 10.1002/jimd.12752. PMID: 38802119
An Infant Case of Transient Distal Renal Tubular Acidosis and Fanconi Syndrome Caused by Rotavirus Gastroenteritis.
Kumagai N, Matsuki T, Nakayama M
Tohoku J Exp Med 2023 Nov 11;261(3):195-198. Epub 2023 Aug 25 doi: 10.1620/tjem.2023.J070. PMID: 37635062
Influence of maternal use of tenofovir disoproxil fumarate or zidovudine in Vietnamese pregnant women with HIV on infant growth, renal function, and bone health.
Kinai E, Nguyen HDT, Do HQ, Matsumoto S, Nagai M, Tanuma J, Nguyen KV, Pham TN, Oka S
PLoS One 2021;16(4):e0250828. Epub 2021 Apr 29 doi: 10.1371/journal.pone.0250828. PMID: 33914827Free PMC Article
Calcium-sensing receptor: evidence and hypothesis for its role in nephrolithiasis.
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
Dipyridamole for renal phosphate leak in successfully renal transplanted hypophosphatemic patients.
Balal M, Paydas S, Seyrek N, Sertdemir Y, Karayaylali I
Clin Nephrol 2005 Feb;63(2):87-91. doi: 10.5414/cnp63087. PMID: 15732176

Recent systematic reviews

Early and late adverse renal effects after potentially nephrotoxic treatment for childhood cancer.
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
Early and late renal adverse effects after potentially nephrotoxic treatment for childhood cancer.
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

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