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Abnormal proximal convoluted tubule morphology

MedGen UID:
1054248
•Concept ID:
CN376766
•
Finding
HPO: HP:6000254

Definition

Any structural anomaly of the proximal convoluted tubule, which is the first tubular component of the nephron and arises as a continuation of the Bowman space from the tubular pole of the renal corpuscle. The proximal convoluted tubule is located within the renal cortex. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal proximal convoluted tubule morphology

Professional guidelines

PubMed

Urinary liver-type fatty acid-binding protein levels for differential diagnosis of idiopathic focal glomerulosclerosis and minor glomerular abnormalities and effect of low-density lipoprotein apheresis.
Nakamura T, Sugaya T, Kawagoe Y, Ueda Y, Osada S, Koide H
Clin Nephrol 2006 Jan;65(1):1-6. doi: 10.5414/cnp65001. PMID: 16429835
High-resolution ultrasonography in the differential diagnosis of cystic diseases of the kidney in infancy and childhood: preliminary experience.
Jain M, LeQuesne GW, Bourne AJ, Henning P
J Ultrasound Med 1997 Apr;16(4):235-40. doi: 10.7863/jum.1997.16.4.235. PMID: 9315149

Recent clinical studies

Etiology

Novel pathogenic variants in CUBN uncouple proteinuria from renal function.
Gan C, Zhou X, Chen D, Chi H, Qiu J, You H, Chen Y, Wang M, Yang H, Jiang W, Li Q
J Transl Med 2022 Oct 20;20(1):480. doi: 10.1186/s12967-022-03706-y. PMID: 36266725Free PMC Article
TBX6 as a cause of a combined skeletal-kidney dysplasia syndrome.
Li G, Strong A, Wang H, Kim JS, Watson D, Zhao S, Vaccaro C, Hartung E, Hakonarson H, Zhang TJ, Giampietro PF, Wu N
Am J Med Genet A 2022 Dec;188(12):3469-3481. Epub 2022 Sep 26 doi: 10.1002/ajmg.a.62972. PMID: 36161696Free PMC Article
Drug-induced Fanconi syndrome in patients with kidney allograft transplantation.
Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free PMC Article
ADAM10 mediates ectopic proximal tubule development and renal fibrosis through Notch signalling.
Li B, Zhu C, Dong L, Qin J, Xiang W, Davidson AJ, Feng S, Wang Y, Shen X, Weng C, Wang C, Zhu T, Teng L, Wang J, Englert C, Chen J, Jiang H
J Pathol 2020 Nov;252(3):274-289. Epub 2020 Sep 24 doi: 10.1002/path.5517. PMID: 32715474Free 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

Diagnosis

Drug-induced Fanconi syndrome in patients with kidney allograft transplantation.
Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free 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
Obstructed Hemivagina with Ipsilateral Renal Anomaly.
Santos XM, Dietrich JE
J Pediatr Adolesc Gynecol 2016 Feb;29(1):7-10. Epub 2014 Sep 28 doi: 10.1016/j.jpag.2014.09.008. PMID: 26165909
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
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

Therapy

Drug-induced Fanconi syndrome in patients with kidney allograft transplantation.
Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free PMC Article
Quantifying Proximal Collecting Tubule Deficiency in Angiotensin-Converting Enzyme Inhibitor and Angiotensin II Receptor Blocker Fetopathy.
Saunders J, Callejas Salgado AM, Ting JY, Mammen C, Terry J, Bush JW
Pediatr Dev Pathol 2021 Sep-Oct;24(5):438-444. Epub 2021 Jun 3 doi: 10.1177/10935266211018922. PMID: 34082612
ADAM10 mediates ectopic proximal tubule development and renal fibrosis through Notch signalling.
Li B, Zhu C, Dong L, Qin J, Xiang W, Davidson AJ, Feng S, Wang Y, Shen X, Weng C, Wang C, Zhu T, Teng L, Wang J, Englert C, Chen J, Jiang H
J Pathol 2020 Nov;252(3):274-289. Epub 2020 Sep 24 doi: 10.1002/path.5517. PMID: 32715474Free PMC Article
Chrysophanol ameliorates renal interstitial fibrosis by inhibiting the TGF-β/Smad signaling pathway.
Dou F, Ding Y, Wang C, Duan J, Wang W, Xu H, Zhao X, Wang J, Wen A
Biochem Pharmacol 2020 Oct;180:114079. Epub 2020 Jun 6 doi: 10.1016/j.bcp.2020.114079. PMID: 32511988
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

Prognosis

Drug-induced Fanconi syndrome in patients with kidney allograft transplantation.
Tang Z, Li T, Dai H, Feng C, Xie X, Peng F, Lan G, Yu S, Wang Y, Fang C, Nie M, Yuan X, Tang X, Jiang X, Zhu X, Fan Y, Peng J, Sun S, Zhong M, Zhang H, Peng L
Front Immunol 2022;13:979983. Epub 2022 Aug 19 doi: 10.3389/fimmu.2022.979983. PMID: 36059468Free PMC Article
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
The pathogenesis of acute kidney impairment in patients with multiple myeloma.
Batuman V
Adv Chronic Kidney Dis 2012 Sep;19(5):282-6. doi: 10.1053/j.ackd.2012.04.009. PMID: 22920637
Proximal tubular injury in myeloma.
Batuman V
Contrib Nephrol 2007;153:87-104. doi: 10.1159/000096762. PMID: 17075225

Clinical prediction guides

Cubilin-, megalin-, and Dab2-dependent transcription revealed by CRISPR/Cas9 knockout in kidney proximal tubule cells.
Long KR, Rbaibi Y, Bondi CD, Ford BR, Poholek AC, Boyd-Shiwarski CR, Tan RJ, Locker JD, Weisz OA
Am J Physiol Renal Physiol 2022 Jan 1;322(1):F14-F26. Epub 2021 Nov 8 doi: 10.1152/ajprenal.00259.2021. PMID: 34747197Free PMC Article
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
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
Tuberous sclerosis complex and DNA repair.
Habib SL
Adv Exp Med Biol 2010;685:84-94. doi: 10.1007/978-1-4419-6448-9_8. PMID: 20687497

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