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Abnormal nephron morphology

MedGen UID:
868444
•Concept ID:
C4022838
•
Anatomical Abnormality
Synonym: Abnormality of the nephron
 
HPO: HP:0012575

Definition

A structural anomaly of the nephron. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal nephron morphology

Professional guidelines

PubMed

Broadening horizons in mechanisms, management, and treatment of diabetic kidney disease.
Petrazzuolo A, Sabiu G, Assi E, Maestroni A, Pastore I, Lunati ME, Montefusco L, Loretelli C, Rossi G, Ben Nasr M, Usuelli V, Xie Y, Balasubramanian HB, Zocchi M, El Essawy B, Yang J, D'Addio F, Fiorina P
Pharmacol Res 2023 Apr;190:106710. Epub 2023 Mar 4 doi: 10.1016/j.phrs.2023.106710. PMID: 36871895
Membranoproliferative glomerulonephritis: no longer the same disease and may need very different treatment.
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly.
Braun DA, Rao J, Mollet G, Schapiro D, Daugeron MC, Tan W, Gribouval O, Boyer O, Revy P, Jobst-Schwan T, Schmidt JM, Lawson JA, Schanze D, Ashraf S, Ullmann JFP, Hoogstraten CA, Boddaert N, Collinet B, Martin G, Liger D, Lovric S, Furlano M, Guerrera IC, Sanchez-Ferras O, Hu JF, Boschat AC, Sanquer S, Menten B, Vergult S, De Rocker N, Airik M, Hermle T, Shril S, Widmeier E, Gee HY, Choi WI, Sadowski CE, Pabst WL, Warejko JK, Daga A, Basta T, Matejas V, Scharmann K, Kienast SD, Behnam B, Beeson B, Begtrup A, Bruce M, Ch'ng GS, Lin SP, Chang JH, Chen CH, Cho MT, Gaffney PM, Gipson PE, Hsu CH, Kari JA, Ke YY, Kiraly-Borri C, Lai WM, Lemyre E, Littlejohn RO, Masri A, Moghtaderi M, Nakamura K, Ozaltin F, Praet M, Prasad C, Prytula A, Roeder ER, Rump P, Schnur RE, Shiihara T, Sinha MD, Soliman NA, Soulami K, Sweetser DA, Tsai WH, Tsai JD, Topaloglu R, Vester U, Viskochil DH, Vatanavicharn N, Waxler JL, Wierenga KJ, Wolf MTF, Wong SN, Leidel SA, Truglio G, Dedon PC, Poduri A, Mane S, Lifton RP, Bouchard M, Kannu P, Chitayat D, Magen D, Callewaert B, van Tilbeurgh H, Zenker M, Antignac C, Hildebrandt F
Nat Genet 2017 Oct;49(10):1529-1538. Epub 2017 Aug 14 doi: 10.1038/ng.3933. PMID: 28805828Free PMC Article

Recent clinical studies

Etiology

IgA Nephropathy: Core Curriculum 2021.
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
Towards adulthood with a solitary kidney.
Cochat P, Febvey O, Bacchetta J, Bérard E, Cabrera N, Dubourg L
Pediatr Nephrol 2019 Nov;34(11):2311-2323. Epub 2018 Oct 1 doi: 10.1007/s00467-018-4085-1. PMID: 30276534
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Chronic kidney disease.
Romagnani P, Remuzzi G, Glassock R, Levin A, Jager KJ, Tonelli M, Massy Z, Wanner C, Anders HJ
Nat Rev Dis Primers 2017 Nov 23;3:17088. doi: 10.1038/nrdp.2017.88. PMID: 29168475

Diagnosis

Genetic Variants of the COL4A3 , COL4A4 , and COL4A5 Genes Contribute to Thinned Glomerular Basement Membrane Lesions in Sporadic IgA Nephropathy Patients.
Yuan X, Su Q, Wang H, Shi S, Liu L, Lv J, Wang S, Zhu L, Zhang H
J Am Soc Nephrol 2023 Jan 1;34(1):132-144. Epub 2022 Oct 5 doi: 10.1681/ASN.2021111447. PMID: 36130833Free PMC Article
Membranoproliferative glomerulonephritis: no longer the same disease and may need very different treatment.
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
A review of clinical characteristics and genetic backgrounds in Alport syndrome.
Nozu K, Nakanishi K, Abe Y, Udagawa T, Okada S, Okamoto T, Kaito H, Kanemoto K, Kobayashi A, Tanaka E, Tanaka K, Hama T, Fujimaru R, Miwa S, Yamamura T, Yamamura N, Horinouchi T, Minamikawa S, Nagata M, Iijima K
Clin Exp Nephrol 2019 Feb;23(2):158-168. Epub 2018 Aug 20 doi: 10.1007/s10157-018-1629-4. PMID: 30128941Free PMC Article
Chronic kidney disease.
Romagnani P, Remuzzi G, Glassock R, Levin A, Jager KJ, Tonelli M, Massy Z, Wanner C, Anders HJ
Nat Rev Dis Primers 2017 Nov 23;3:17088. doi: 10.1038/nrdp.2017.88. PMID: 29168475

Therapy

IgA Nephropathy: Core Curriculum 2021.
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
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
Towards adulthood with a solitary kidney.
Cochat P, Febvey O, Bacchetta J, Bérard E, Cabrera N, Dubourg L
Pediatr Nephrol 2019 Nov;34(11):2311-2323. Epub 2018 Oct 1 doi: 10.1007/s00467-018-4085-1. PMID: 30276534
C3 glomerulopathy and current dilemmas.
Ito N, Ohashi R, Nagata M
Clin Exp Nephrol 2017 Aug;21(4):541-551. Epub 2016 Nov 23 doi: 10.1007/s10157-016-1358-5. PMID: 27878657Free PMC Article
Anti-glomerular basement membrane antibodies.
Silvariño R, Noboa O, Cervera R
Isr Med Assoc J 2014 Nov;16(11):727-32. PMID: 25558706

Prognosis

IgA Nephropathy: Core Curriculum 2021.
Pattrapornpisut P, Avila-Casado C, Reich HN
Am J Kidney Dis 2021 Sep;78(3):429-441. Epub 2021 Jul 9 doi: 10.1053/j.ajkd.2021.01.024. PMID: 34247883
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
Podocytopathies.
Kopp JB, Anders HJ, Susztak K, Podestà MA, Remuzzi G, Hildebrandt F, Romagnani P
Nat Rev Dis Primers 2020 Aug 13;6(1):68. doi: 10.1038/s41572-020-0196-7. PMID: 32792490Free PMC Article
A Primer on Congenital Anomalies of the Kidneys and Urinary Tracts (CAKUT).
Murugapoopathy V, Gupta IR
Clin J Am Soc Nephrol 2020 May 7;15(5):723-731. Epub 2020 Mar 18 doi: 10.2215/CJN.12581019. PMID: 32188635Free PMC Article
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

Clinical and pathological investigation of oligomeganephronia.
Kitakado H, Horinouchi T, Masuda C, Kondo A, Nagai S, Aoto Y, Sakakibara N, Ninchoji T, Yoshikawa N, Nozu K
Pediatr Nephrol 2023 Mar;38(3):757-762. Epub 2022 Jul 21 doi: 10.1007/s00467-022-05687-y. PMID: 35861872
Immunoglobulin A nephropathy in paediatrics: An up-to-date.
Paranhos RM, De Souza Figueiredo GA, De Abreu GR, Ferreira GC, Fonseca GG, Simões E Silva AC
Nephrology (Carlton) 2022 Apr;27(4):307-317. Epub 2021 Oct 29 doi: 10.1111/nep.13987. PMID: 34676611
C3 glomerulopathy and current dilemmas.
Ito N, Ohashi R, Nagata M
Clin Exp Nephrol 2017 Aug;21(4):541-551. Epub 2016 Nov 23 doi: 10.1007/s10157-016-1358-5. PMID: 27878657Free 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
Pathophysiology of proteinuria.
D'Amico G, Bazzi C
Kidney Int 2003 Mar;63(3):809-25. doi: 10.1046/j.1523-1755.2003.00840.x. PMID: 12631062

Recent systematic reviews

Factors Predisposing to Hypertension in Subjects Formerly Born Preterm: Renal Impairment, Arterial Stiffness, Endothelial Dysfunction or Something Else?
Crisafulli A, Bassareo PP, Kelleher S, Calcaterra G, Mercuro G
Curr Hypertens Rev 2020;16(2):82-90. doi: 10.2174/1573402115666190627140523. PMID: 31244440Free PMC Article
Current evidence on the use of anti-RAAS agents in congenital or acquired solitary kidney.
Simeoni M, Armeni A, Summaria C, Cerantonio A, Fuiano G
Ren Fail 2017 Nov;39(1):660-670. doi: 10.1080/0886022X.2017.1361840. PMID: 28805480Free PMC Article

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