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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
See: Condition Record
Hypotonia with lactic acidemia and hyperammonemia

Professional guidelines

PubMed

Rationale for early treatment of polycystic kidney disease.
Grantham JJ
Pediatr Nephrol 2015 Jul;30(7):1053-62. Epub 2014 Jul 15 doi: 10.1007/s00467-014-2882-8. PMID: 25022529
Strategies targeting cAMP signaling in the treatment of polycystic kidney disease.
Torres VE, Harris PC
J Am Soc Nephrol 2014 Jan;25(1):18-32. Epub 2013 Dec 12 doi: 10.1681/ASN.2013040398. PMID: 24335972Free PMC Article
Renal carcinogenesis: genotype, phenotype and dramatype.
Hino O, Kobayashi T, Momose S, Kikuchi Y, Adachi H, Okimoto K
Cancer Sci 2003 Feb;94(2):142-7. doi: 10.1111/j.1349-7006.2003.tb01410.x. PMID: 12708488

Recent clinical studies

Etiology

Molecular genetics of renal ciliopathies.
Barroso-Gil M, Olinger E, Sayer JA
Biochem Soc Trans 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791. PMID: 33960378
Mitophagy in Acute Kidney Injury and Kidney Repair.
Wang Y, Cai J, Tang C, Dong Z
Cells 2020 Feb 1;9(2) doi: 10.3390/cells9020338. PMID: 32024113Free PMC Article
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
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
Pathophysiology of Calcium, Phosphorus, and Magnesium Dysregulation in Chronic Kidney Disease.
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
Inherited renal diseases.
Leung JC
Curr Pediatr Rev 2014;10(2):95-100. doi: 10.2174/157339631002140513101755. PMID: 25088262

Diagnosis

Molecular genetics of renal ciliopathies.
Barroso-Gil M, Olinger E, Sayer JA
Biochem Soc Trans 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791. PMID: 33960378
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
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
Renal dysplasia.
Chen RY, Chang H
Arch Pathol Lab Med 2015 Apr;139(4):547-51. doi: 10.5858/arpa.2013-0660-RS. PMID: 25822765
Myoglobinuria.
David WS
Neurol Clin 2000 Feb;18(1):215-43. doi: 10.1016/s0733-8619(05)70187-0. PMID: 10658177
Interstitial nephritis.
Dixon AJ, Winearls CG, Dunnill MS
J Clin Pathol 1981 Jun;34(6):616-24. doi: 10.1136/jcp.34.6.616. PMID: 7251904Free PMC Article

Therapy

Fisetin ameliorates fibrotic kidney disease in mice via inhibiting ACSL4-mediated tubular ferroptosis.
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
Pathophysiology of diabetic kidney disease: impact of SGLT2 inhibitors.
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
Purinergic signaling in kidney disease.
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
Sirtuin and metabolic kidney disease.
Wakino S, Hasegawa K, Itoh H
Kidney Int 2015 Oct;88(4):691-8. Epub 2015 Jun 17 doi: 10.1038/ki.2015.157. PMID: 26083654Free PMC Article
Drug discovery for polycystic kidney disease.
Sun Y, Zhou H, Yang BX
Acta Pharmacol Sin 2011 Jun;32(6):805-16. doi: 10.1038/aps.2011.29. PMID: 21642949Free PMC Article

Prognosis

Molecular genetics of renal ciliopathies.
Barroso-Gil M, Olinger E, Sayer JA
Biochem Soc Trans 2021 Jun 30;49(3):1205-1220. doi: 10.1042/BST20200791. PMID: 33960378
KIM-1 mediates fatty acid uptake by renal tubular cells to promote progressive diabetic kidney disease.
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
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
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
Genetics and CKD.
Vehaskari VM
Adv Chronic Kidney Dis 2011 Sep;18(5):317-23. doi: 10.1053/j.ackd.2011.07.001. PMID: 21896372
Autosomal dominant polycystic kidney disease.
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

KIM-1 mediates fatty acid uptake by renal tubular cells to promote progressive diabetic kidney disease.
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
More advantages in detecting bone and soft tissue metastases from prostate cancer using (18)F-PSMA PET/CT.
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
New insights into the role of HNF-1β in kidney (patho)physiology.
Ferrè S, Igarashi P
Pediatr Nephrol 2019 Aug;34(8):1325-1335. Epub 2018 Jul 1 doi: 10.1007/s00467-018-3990-7. PMID: 29961928Free PMC Article
Cell Proliferation and Apoptosis in ADPKD.
Lee EJ
Adv Exp Med Biol 2016;933:25-34. doi: 10.1007/978-981-10-2041-4_3. PMID: 27730432
Renal tubular dysgenesis.
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579

Recent systematic reviews

Renal structural image processing techniques: a systematic review.
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

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