U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Renal tubular transport disease

MedGen UID:
19728
•Concept ID:
C0035091
•
Disease or Syndrome
Synonyms: Kidney Tubular Transport, Inborn Error; Kidney Tubular Transport, Inborn Errors; Renal Tubular Transport Errors; Renal Tubular Transport, Inborn Error; Renal Tubular Transport, Inborn Errors
 
Monarch Initiative: MONDO:0006510

Definition

Genetic defects in the selective or non-selective transport functions of the kidney tubules. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVRenal tubular transport disease

Professional guidelines

PubMed

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.
Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Clinical practice guideline for renal hypouricemia (1st edition).
Nakayama A, Matsuo H, Ohtahara A, Ogino K, Hakoda M, Hamada T, Hosoyamada M, Yamaguchi S, Hisatome I, Ichida K, Shinomiya N
Hum Cell 2019 Apr;32(2):83-87. Epub 2019 Feb 19 doi: 10.1007/s13577-019-00239-3. PMID: 30783949Free PMC Article
Sodium Glucose Cotransporter 2 Inhibitors in the Treatment of Diabetes Mellitus: Cardiovascular and Kidney Effects, Potential Mechanisms, and Clinical Applications.
Heerspink HJ, Perkins BA, Fitchett DH, Husain M, Cherney DZ
Circulation 2016 Sep 6;134(10):752-72. Epub 2016 Jul 28 doi: 10.1161/CIRCULATIONAHA.116.021887. PMID: 27470878

Recent clinical studies

Etiology

The pathophysiology of distal renal tubular acidosis.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
Renal Protection with SGLT2 Inhibitors: Effects in Acute and Chronic Kidney Disease.
Bailey CJ, Day C, Bellary S
Curr Diab Rep 2022 Jan;22(1):39-52. Epub 2022 Feb 3 doi: 10.1007/s11892-021-01442-z. PMID: 35113333Free PMC Article
The tubular hypothesis of nephron filtration and diabetic kidney disease.
Vallon V, Thomson SC
Nat Rev Nephrol 2020 Jun;16(6):317-336. Epub 2020 Mar 9 doi: 10.1038/s41581-020-0256-y. PMID: 32152499Free PMC Article
Hyperkalemia: pathophysiology, risk factors and consequences.
Hunter RW, Bailey MA
Nephrol Dial Transplant 2019 Dec 1;34(Suppl 3):iii2-iii11. doi: 10.1093/ndt/gfz206. PMID: 31800080Free PMC Article
Lipid Accumulation and Chronic Kidney Disease.
Gai Z, Wang T, Visentin M, Kullak-Ublick GA, Fu X, Wang Z
Nutrients 2019 Mar 28;11(4) doi: 10.3390/nu11040722. PMID: 30925738Free PMC Article

Diagnosis

Acid-Base Disorders in the Critically Ill Patient.
Achanti A, Szerlip HM
Clin J Am Soc Nephrol 2023 Jan 1;18(1):102-112. Epub 2022 Aug 23 doi: 10.2215/CJN.04500422. PMID: 35998977Free PMC Article
Distal renal tubular acidosis: a systematic approach from diagnosis to treatment.
Giglio S, Montini G, Trepiccione F, Gambaro G, Emma F
J Nephrol 2021 Dec;34(6):2073-2083. Epub 2021 Mar 26 doi: 10.1007/s40620-021-01032-y. PMID: 33770395Free PMC Article
Hyperkalemia: pathophysiology, risk factors and consequences.
Hunter RW, Bailey MA
Nephrol Dial Transplant 2019 Dec 1;34(Suppl 3):iii2-iii11. doi: 10.1093/ndt/gfz206. PMID: 31800080Free PMC Article
Cystinosis: a review.
Elmonem MA, Veys KR, Soliman NA, van Dyck M, van den Heuvel LP, Levtchenko E
Orphanet J Rare Dis 2016 Apr 22;11:47. doi: 10.1186/s13023-016-0426-y. PMID: 27102039Free PMC Article
Renal autoregulation in health and disease.
Carlström M, Wilcox CS, Arendshorst WJ
Physiol Rev 2015 Apr;95(2):405-511. doi: 10.1152/physrev.00042.2012. PMID: 25834230Free PMC Article

Therapy

The pathophysiology of distal renal tubular acidosis.
Wagner CA, Unwin R, Lopez-Garcia SC, Kleta R, Bockenhauer D, Walsh S
Nat Rev Nephrol 2023 Jun;19(6):384-400. Epub 2023 Apr 4 doi: 10.1038/s41581-023-00699-9. PMID: 37016093
Acid-Base Disorders in the Critically Ill Patient.
Achanti A, Szerlip HM
Clin J Am Soc Nephrol 2023 Jan 1;18(1):102-112. Epub 2022 Aug 23 doi: 10.2215/CJN.04500422. PMID: 35998977Free PMC Article
Renal Protection with SGLT2 Inhibitors: Effects in Acute and Chronic Kidney Disease.
Bailey CJ, Day C, Bellary S
Curr Diab Rep 2022 Jan;22(1):39-52. Epub 2022 Feb 3 doi: 10.1007/s11892-021-01442-z. PMID: 35113333Free PMC Article
The tubular hypothesis of nephron filtration and diabetic kidney disease.
Vallon V, Thomson SC
Nat Rev Nephrol 2020 Jun;16(6):317-336. Epub 2020 Mar 9 doi: 10.1038/s41581-020-0256-y. PMID: 32152499Free PMC Article
Uric acid and the kidney.
Fathallah-Shaykh SA, Cramer MT
Pediatr Nephrol 2014 Jun;29(6):999-1008. Epub 2013 Jul 4 doi: 10.1007/s00467-013-2549-x. PMID: 23824181

Prognosis

Inherited Fanconi syndrome.
Albuquerque ALB, Dos Santos Borges R, Conegundes AF, Dos Santos EE, Fu FMM, Araujo CT, Vaz de Castro PAS, Simões E Silva AC
World J Pediatr 2023 Jul;19(7):619-634. Epub 2023 Feb 2 doi: 10.1007/s12519-023-00685-y. PMID: 36729281
The tubular hypothesis of nephron filtration and diabetic kidney disease.
Vallon V, Thomson SC
Nat Rev Nephrol 2020 Jun;16(6):317-336. Epub 2020 Mar 9 doi: 10.1038/s41581-020-0256-y. PMID: 32152499Free PMC Article
Hyperkalemia: pathophysiology, risk factors and consequences.
Hunter RW, Bailey MA
Nephrol Dial Transplant 2019 Dec 1;34(Suppl 3):iii2-iii11. doi: 10.1093/ndt/gfz206. PMID: 31800080Free PMC Article
Dent's disease.
Devuyst O, Thakker RV
Orphanet J Rare Dis 2010 Oct 14;5:28. doi: 10.1186/1750-1172-5-28. PMID: 20946626Free PMC Article
Nephrolithiasis.
Scheinman SJ
Semin Nephrol 1999 Jul;19(4):381-8. PMID: 10435676

Clinical prediction guides

Renal Protection with SGLT2 Inhibitors: Effects in Acute and Chronic Kidney Disease.
Bailey CJ, Day C, Bellary S
Curr Diab Rep 2022 Jan;22(1):39-52. Epub 2022 Feb 3 doi: 10.1007/s11892-021-01442-z. PMID: 35113333Free PMC Article
Renal effects of uric acid: hyperuricemia and hypouricemia.
Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
The tubular hypothesis of nephron filtration and diabetic kidney disease.
Vallon V, Thomson SC
Nat Rev Nephrol 2020 Jun;16(6):317-336. Epub 2020 Mar 9 doi: 10.1038/s41581-020-0256-y. PMID: 32152499Free PMC Article
Arachidonic Acid Metabolism and Kidney Inflammation.
Wang T, Fu X, Chen Q, Patra JK, Wang D, Wang Z, Gai Z
Int J Mol Sci 2019 Jul 27;20(15) doi: 10.3390/ijms20153683. PMID: 31357612Free PMC Article
Sodium Glucose Cotransporter 2 Inhibitors in the Treatment of Diabetes Mellitus: Cardiovascular and Kidney Effects, Potential Mechanisms, and Clinical Applications.
Heerspink HJ, Perkins BA, Fitchett DH, Husain M, Cherney DZ
Circulation 2016 Sep 6;134(10):752-72. Epub 2016 Jul 28 doi: 10.1161/CIRCULATIONAHA.116.021887. PMID: 27470878

Recent systematic reviews

The intact nephron hypothesis as a model for renal drug handling.
Pradhan S, Duffull SB, Walker RJ, Wright DFB
Eur J Clin Pharmacol 2019 Feb;75(2):147-156. Epub 2018 Oct 8 doi: 10.1007/s00228-018-2572-8. PMID: 30298363
SGLT-2 inhibitors in Diabetic Kidney Disease: What Lies Behind their Renoprotective Properties?
Georgianos PI, Divani M, Eleftheriadis T, Mertens PR, Liakopoulos V
Curr Med Chem 2019;26(29):5564-5578. doi: 10.2174/0929867325666180524114033. PMID: 29792136
Hypokalemic rhabdomyolysis in congenital tubular disorders: a case series and a systematic review.
von Vigier RO, Ortisi MT, La Manna A, Bianchetti MG, Bettinelli A
Pediatr Nephrol 2010 May;25(5):861-6. Epub 2009 Dec 22 doi: 10.1007/s00467-009-1388-2. PMID: 20033223

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Reviews

    Related information

    • MeSH
      Related Medical Subject Headings
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...