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Impaired renal tubular reabsorption of low molecular weight protein

MedGen UID:
1815093
•Concept ID:
C5706187
•
Finding
Synonym: Increased low molecular weight protein excretion
 
HPO: HP:0034356

Definition

Increased loss of low-molecular weight proteins by the kidneys, measured in terms of the fractional excretion (FE). The FE of low-molecular-weight proteins such as beta2-microglobulin can be measured in terms of plasma and urine concentrations, since urinary low-molecular-weight protein concentrations can vary with water reabsorption. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImpaired renal tubular reabsorption of low molecular weight protein

Professional guidelines

PubMed

Short-term effects of fish oil treatment on urinary excretion of high- and low-molecular weight proteins in patients with IgA nephropathy.
Branten AJ, Klasen IS, Wetzels JF
Clin Nephrol 2002 Oct;58(4):267-74. doi: 10.5414/cnp58267. PMID: 12400841

Recent clinical studies

Etiology

Deletion of insulin receptor in the proximal tubule and fasting augment albumin excretion.
Kumari M, Sharma R, Pandey G, Ecelbarger CM, Mishra P, Tiwari S
J Cell Biochem 2019 Jun;120(6):10688-10696. Epub 2019 Jan 15 doi: 10.1002/jcb.28359. PMID: 30644120
Evaluation of renal glomerular and tubular functional and structural integrity in neonates.
Awad H, el-Safty I, el-Barbary M, Imam S
Am J Med Sci 2002 Nov;324(5):261-6. doi: 10.1097/00000441-200211000-00005. PMID: 12449447
Proximal tubular reabsorption of growth hormone and sodium/fluid in normo- and microalbuminuric insulin-dependent diabetes mellitus.
Turner G, Coates P, Warren S, Woodhead JS, Peters JR
Acta Diabetol 1997 Mar;34(1):27-32. doi: 10.1007/s005920050061. PMID: 9134054
Cadmium-associated renal disease.
Savolainen H
Ren Fail 1995 Sep;17(5):483-7. doi: 10.3109/08860229509037613. PMID: 8570861
Evaluation of renal tubular damage in liver cirrhosis by urinary enzymes and beta-2-microglobulin excretions.
Gatta A, Amodio P, Frigo A, Merkel C, Milani L, Zuin R, Ruol A
Eur J Clin Invest 1981 Jun;11(3):239-43. doi: 10.1111/j.1365-2362.1981.tb01847.x. PMID: 6168470

Diagnosis

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R
J Am Soc Nephrol 2022 Apr;33(4):732-745. Epub 2022 Feb 11 doi: 10.1681/ASN.2021101312. PMID: 35149593Free PMC Article
Proteinuria-take a closer look!
Bökenkamp A
Pediatr Nephrol 2020 Apr;35(4):533-541. Epub 2020 Jan 10 doi: 10.1007/s00467-019-04454-w. PMID: 31925536Free PMC Article
Receptor-mediated endocytosis and endosomal acidification is impaired in proximal tubule epithelial cells of Dent disease patients.
Gorvin CM, Wilmer MJ, Piret SE, Harding B, van den Heuvel LP, Wrong O, Jat PS, Lippiat JD, Levtchenko EN, Thakker RV
Proc Natl Acad Sci U S A 2013 Apr 23;110(17):7014-9. Epub 2013 Apr 9 doi: 10.1073/pnas.1302063110. PMID: 23572577Free PMC Article
Heavy metal poisoning: the effects of cadmium on the kidney.
Johri N, Jacquillet G, Unwin R
Biometals 2010 Oct;23(5):783-92. Epub 2010 Mar 31 doi: 10.1007/s10534-010-9328-y. PMID: 20354761
Evaluation of renal glomerular and tubular functional and structural integrity in neonates.
Awad H, el-Safty I, el-Barbary M, Imam S
Am J Med Sci 2002 Nov;324(5):261-6. doi: 10.1097/00000441-200211000-00005. PMID: 12449447

Therapy

Evaluation of renal glomerular and tubular functional and structural integrity in neonates.
Awad H, el-Safty I, el-Barbary M, Imam S
Am J Med Sci 2002 Nov;324(5):261-6. doi: 10.1097/00000441-200211000-00005. PMID: 12449447
Short-term effects of fish oil treatment on urinary excretion of high- and low-molecular weight proteins in patients with IgA nephropathy.
Branten AJ, Klasen IS, Wetzels JF
Clin Nephrol 2002 Oct;58(4):267-74. doi: 10.5414/cnp58267. PMID: 12400841
Biochemical and morphological effects of contrast media on the kidney.
Dobrota M, Powell CJ, Holtz E, Wallin A, Vik H
Acta Radiol Suppl 1995;399:196-203. doi: 10.1177/0284185195036s39924. PMID: 8610515
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
Urinary beta 2-microglobulin, antimicrobial chemotherapy and infectious diseases.
Trollfors B
Ups J Med Sci 1985;90(1):31-6. doi: 10.3109/03009738509178635. PMID: 3890318

Prognosis

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R
J Am Soc Nephrol 2022 Apr;33(4):732-745. Epub 2022 Feb 11 doi: 10.1681/ASN.2021101312. PMID: 35149593Free PMC Article
Tubular reabsorption of high, middle and low molecular weight proteins according to the tubulo-interstitial damage marker N-acetyl-β-D-glucosaminidase in glomerulonephritis.
Bazzi C, Rizza V, Olivieri G, Casellato D, D'Amico G
J Nephrol 2015 Oct;28(5):541-8. Epub 2014 Sep 17 doi: 10.1007/s40620-014-0139-z. PMID: 25227764
Evaluation of renal glomerular and tubular functional and structural integrity in neonates.
Awad H, el-Safty I, el-Barbary M, Imam S
Am J Med Sci 2002 Nov;324(5):261-6. doi: 10.1097/00000441-200211000-00005. PMID: 12449447
Proximal tubular reabsorption of growth hormone and sodium/fluid in normo- and microalbuminuric insulin-dependent diabetes mellitus.
Turner G, Coates P, Warren S, Woodhead JS, Peters JR
Acta Diabetol 1997 Mar;34(1):27-32. doi: 10.1007/s005920050061. PMID: 9134054
Urinary beta 2-microglobulin, antimicrobial chemotherapy and infectious diseases.
Trollfors B
Ups J Med Sci 1985;90(1):31-6. doi: 10.3109/03009738509178635. PMID: 3890318

Clinical prediction guides

A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
Issler N, Afonso S, Weissman I, Jordan K, Cebrian-Serrano A, Meindl K, Dahlke E, Tziridis K, Yan G, Robles-López JM, Tabernero L, Patel V, Kesselheim A, Klootwijk ED, Stanescu HC, Dumitriu S, Iancu D, Tekman M, Mozere M, Jaureguiberry G, Outtandy P, Russell C, Forst AL, Sterner C, Heinl ES, Othmen H, Tegtmeier I, Reichold M, Schiessl IM, Limm K, Oefner P, Witzgall R, Fu L, Theilig F, Schilling A, Shuster Biton E, Kalfon L, Fedida A, Arnon-Sheleg E, Ben Izhak O, Magen D, Anikster Y, Schulze H, Ziegler C, Lowe M, Davies B, Böckenhauer D, Kleta R, Falik Zaccai TC, Warth R
J Am Soc Nephrol 2022 Apr;33(4):732-745. Epub 2022 Feb 11 doi: 10.1681/ASN.2021101312. PMID: 35149593Free PMC Article
Deletion of insulin receptor in the proximal tubule and fasting augment albumin excretion.
Kumari M, Sharma R, Pandey G, Ecelbarger CM, Mishra P, Tiwari S
J Cell Biochem 2019 Jun;120(6):10688-10696. Epub 2019 Jan 15 doi: 10.1002/jcb.28359. PMID: 30644120
Tubular reabsorption of high, middle and low molecular weight proteins according to the tubulo-interstitial damage marker N-acetyl-β-D-glucosaminidase in glomerulonephritis.
Bazzi C, Rizza V, Olivieri G, Casellato D, D'Amico G
J Nephrol 2015 Oct;28(5):541-8. Epub 2014 Sep 17 doi: 10.1007/s40620-014-0139-z. PMID: 25227764
Evaluation of renal glomerular and tubular functional and structural integrity in neonates.
Awad H, el-Safty I, el-Barbary M, Imam S
Am J Med Sci 2002 Nov;324(5):261-6. doi: 10.1097/00000441-200211000-00005. PMID: 12449447
Urinary beta 2-microglobulin, antimicrobial chemotherapy and infectious diseases.
Trollfors B
Ups J Med Sci 1985;90(1):31-6. doi: 10.3109/03009738509178635. PMID: 3890318

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