U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal renal tubule morphology

MedGen UID:
867449
Concept ID:
C4021826
Anatomical Abnormality
Synonyms: Abnormality of the renal tubule; Morphologic abnormality of the renal tubules
 
HPO: HP:0000091

Definition

An abnormality of the renal tubules. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal renal tubule morphology

Conditions with this feature

Hypotonia with lactic acidemia and hyperammonemia
MedGen UID:
435972
Concept ID:
C2673642
Disease or Syndrome
This syndrome is characterized by severe hypotonia, lactic acidemia and congenital hyperammonemia. It has been described in three newborns born to consanguineous parents. Ultrasound examination during the 36th week of pregnancy revealed generalized edema. Hypertrophic cardiomyopathy and tubulopathy developed within the first week of life and the infants died within the first month. The activities of enzymes in the mitochondrial respiratory chain were reduced in the muscles of the patients. Mutations were identified in the MRPS22 gene on chromosome 3q23, encoding a mitochondrial ribosomal protein

Professional guidelines

PubMed

Grantham JJ
Pediatr Nephrol 2015 Jul;30(7):1053-62. Epub 2014 Jul 15 doi: 10.1007/s00467-014-2882-8. PMID: 25022529
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie, Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR
Kidney Int 2010 Feb;77(4):350-8. Epub 2009 Nov 25 doi: 10.1038/ki.2009.440. PMID: 19940839
Parfitt AM, Frame B
Semin Drug Treat 1972 Summer;2(1):83-115. PMID: 4558760

Recent clinical studies

Etiology

Gao L, Zhang J, Yang T, Jiang L, Liu X, Wang S, Wang X, Huang Y, Wang H, Zhang M, Gong T, Ma L, Li C, He C, Meng XM, Wu Y
Mol Ther 2023 Oct 4;31(10):3084-3103. Epub 2023 Aug 2 doi: 10.1016/j.ymthe.2023.07.026. PMID: 37533255Free PMC Article
Felsenfeld AJ, Levine BS, Rodriguez M
Semin Dial 2015 Nov-Dec;28(6):564-77. Epub 2015 Aug 25 doi: 10.1111/sdi.12411. PMID: 26303319
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262
Pazour GJ
J Am Soc Nephrol 2004 Oct;15(10):2528-36. doi: 10.1097/01.ASN.0000141055.57643.E0. PMID: 15466257
Boletta A, Germino GG
Trends Cell Biol 2003 Sep;13(9):484-92. doi: 10.1016/s0962-8924(03)00169-7. PMID: 12946628

Diagnosis

Viering D, Schlingmann KP, Hureaux M, Nijenhuis T, Mallett A, Chan MMY, van Beek A, van Eerde AM, Coulibaly JM, Vallet M, Decramer S, Pelletier S, Klaus G, Kömhoff M, Beetz R, Patel C, Shenoy M, Steenbergen EJ, Anderson G, Bongers EMHF, Bergmann C, Panneman D, Rodenburg RJ, Kleta R, Houillier P, Konrad M, Vargas-Poussou R, Knoers NVAM, Bockenhauer D, de Baaij JHF; Genomics England Research Consortium
J Am Soc Nephrol 2022 Feb;33(2):305-325. Epub 2021 Oct 4 doi: 10.1681/ASN.2021050596. PMID: 34607911Free PMC Article
Chen RY, Chang H
Arch Pathol Lab Med 2015 Apr;139(4):547-51. doi: 10.5858/arpa.2013-0660-RS. PMID: 25822765
Grosicka A, Kucharz EJ
Wiad Lek 2009;62(3):197-203. PMID: 20229718
Schrier RW, Wang W, Poole B, Mitra A
J Clin Invest 2004 Jul;114(1):5-14. doi: 10.1172/JCI22353. PMID: 15232604Free PMC Article
David WS
Neurol Clin 2000 Feb;18(1):215-43. doi: 10.1016/s0733-8619(05)70187-0. PMID: 10658177

Therapy

Wang B, Yang LN, Yang LT, Liang Y, Guo F, Fu P, Ma L
Acta Pharmacol Sin 2024 Jan;45(1):150-165. Epub 2023 Sep 11 doi: 10.1038/s41401-023-01156-w. PMID: 37696989Free PMC Article
DeFronzo RA, Reeves WB, Awad AS
Nat Rev Nephrol 2021 May;17(5):319-334. Epub 2021 Feb 5 doi: 10.1038/s41581-021-00393-8. PMID: 33547417
Menzies RI, Tam FW, Unwin RJ, Bailey MA
Kidney Int 2017 Feb;91(2):315-323. Epub 2016 Oct 22 doi: 10.1016/j.kint.2016.08.029. PMID: 27780585
Rinschen MM, Schermer B, Benzing T
J Am Soc Nephrol 2014 Jun;25(6):1140-7. Epub 2014 Feb 20 doi: 10.1681/ASN.2013101037. PMID: 24556353Free PMC Article
Jaisser F, Beggah AT
Exp Nephrol 1998 Sep-Oct;6(5):438-46. doi: 10.1159/000020553. PMID: 9730660

Prognosis

Mori Y, Ajay AK, Chang JH, Mou S, Zhao H, Kishi S, Li J, Brooks CR, Xiao S, Woo HM, Sabbisetti VS, Palmer SC, Galichon P, Li L, Henderson JM, Kuchroo VK, Hawkins J, Ichimura T, Bonventre JV
Cell Metab 2021 May 4;33(5):1042-1061.e7. doi: 10.1016/j.cmet.2021.04.004. PMID: 33951465Free PMC Article
Nathany S, Monappa V
Arch Pathol Lab Med 2020 Jan;144(1):115-118. Epub 2019 Mar 13 doi: 10.5858/arpa.2017-0506-RS. PMID: 30865490
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372
Denamur E, Delezoide AL, Alberti C, Bourillon A, Gubler MC, Bouvier R, Pascaud O, Elion J, Grandchamp B, Michel-Calemard L, Missy P, Zaccaria I, Le Nagard H, Gerard B, Loirat C; Société Française de Foetopathologie, Barbet J, Beaufrère AM, Berchel C, Bessières B, Boudjemaa S, Buenerd A, Carles D, Clemenson A, Dechelotte P, Devisme L, Dijoud F, Espérandieu O, Fallet C, Gonzalès M, Hillion Y, Jacob B, Joubert M, Kermanach P, Lallemand A, Laquerrière A, Laurent N, Liprandi A, Loeuillet L, Loget P, Martinovic J, Ménez F, Narcy F, Roux JJ, Rouleau-Dubois C, Sinico M, Tantau J, Wann AR
Kidney Int 2010 Feb;77(4):350-8. Epub 2009 Nov 25 doi: 10.1038/ki.2009.440. PMID: 19940839
Torres VE, Harris PC, Pirson Y
Lancet 2007 Apr 14;369(9569):1287-1301. doi: 10.1016/S0140-6736(07)60601-1. PMID: 17434405

Clinical prediction guides

Mori Y, Ajay AK, Chang JH, Mou S, Zhao H, Kishi S, Li J, Brooks CR, Xiao S, Woo HM, Sabbisetti VS, Palmer SC, Galichon P, Li L, Henderson JM, Kuchroo VK, Hawkins J, Ichimura T, Bonventre JV
Cell Metab 2021 May 4;33(5):1042-1061.e7. doi: 10.1016/j.cmet.2021.04.004. PMID: 33951465Free PMC Article
Pianou NK, Stavrou PZ, Vlontzou E, Rondogianni P, Exarhos DN, Datseris IE
Hell J Nucl Med 2019 Jan-Apr;22(1):6-9. Epub 2019 Mar 7 doi: 10.1967/s002449910952. PMID: 30843003
Lee EJ
Adv Exp Med Biol 2016;933:25-34. doi: 10.1007/978-981-10-2041-4_3. PMID: 27730432
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Burtey S, Riera M, Ribe E, Pennekamp P, Passage E, Rance R, Dworniczak B, Fontés M
Nephrol Dial Transplant 2008 Apr;23(4):1157-65. Epub 2007 Nov 29 doi: 10.1093/ndt/gfm763. PMID: 18048422

Recent systematic reviews

Asadzadeh S, Khosroshahi HT, Abedi B, Ghasemi Y, Meshgini S
Ren Fail 2019 Nov;41(1):57-68. doi: 10.1080/0886022X.2019.1572016. PMID: 30747036Free PMC Article

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...