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Abnormal renal cortex morphology

MedGen UID:
869160
Concept ID:
C4023580
Anatomical Abnormality
Synonym: Abnormality of renal cortex morphology
 
HPO: HP:0011035

Definition

An abnormality of the cortex of the kidney. [from HPO]

Conditions with this feature

DEGCAGS syndrome
MedGen UID:
1794177
Concept ID:
C5561967
Disease or Syndrome
DEGCAGS syndrome is an autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy. Affected individuals have variable systemic manifestations often with significant structural defects of the cardiovascular, genitourinary, gastrointestinal, and/or skeletal systems. Additional features may include sensorineural hearing loss, hypotonia, anemia or pancytopenia, and immunodeficiency with recurrent infections. Death in childhood may occur (summary by Bertoli-Avella et al., 2021).

Professional guidelines

PubMed

Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
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
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

Recent clinical studies

Etiology

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
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
Schreuder MF
Pediatr Nephrol 2012 Oct;27(10):1881-7. Epub 2012 Apr 25 doi: 10.1007/s00467-012-2169-x. PMID: 22532329Free PMC Article
Depreter M, Espeel M, Roels F
Microsc Res Tech 2003 Jun 1;61(2):203-23. doi: 10.1002/jemt.10330. PMID: 12740827
George CR, Hickman RO, Stricker GE
Clin Nephrol 1976 Jan;5(1):20-4. PMID: 765027

Diagnosis

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
Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
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
Hudson BG, Tryggvason K, Sundaramoorthy M, Neilson EG
N Engl J Med 2003 Jun 19;348(25):2543-56. doi: 10.1056/NEJMra022296. PMID: 12815141
Mogensen CE, Christensen CK, Vittinghus E
Diabetes 1983 May;32 Suppl 2:64-78. doi: 10.2337/diab.32.2.s64. PMID: 6400670

Therapy

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
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
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
Monroy Trujillo JM, Fine DM
Panminerva Med 2016 Dec;58(4):286-293. Epub 2016 Sep 6 PMID: 27598890
Saeki T, Kawano M
Kidney Int 2014 Feb;85(2):251-7. Epub 2013 Oct 9 doi: 10.1038/ki.2013.393. PMID: 24107849

Prognosis

Noris M, Daina E, Remuzzi G
Nephrol Dial Transplant 2023 Feb 13;38(2):283-290. doi: 10.1093/ndt/gfab281. PMID: 34596686
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
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
Witzgall R
Pflugers Arch 2017 Aug;469(7-8):927-936. Epub 2017 Jul 5 doi: 10.1007/s00424-017-2013-z. PMID: 28681095
D'Amico G, Bazzi C
Kidney Int 2003 Mar;63(3):809-25. doi: 10.1046/j.1523-1755.2003.00840.x. PMID: 12631062

Clinical prediction guides

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
Plevová P, Gut J, Janda J
Medicina (Kaunas) 2017;53(1):1-10. Epub 2017 Jan 31 doi: 10.1016/j.medici.2017.01.002. PMID: 28236514
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
Saeki T, Kawano M
Kidney Int 2014 Feb;85(2):251-7. Epub 2013 Oct 9 doi: 10.1038/ki.2013.393. PMID: 24107849
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

Morris RK, Malin GL, Khan KS, Kilby MD
BJOG 2009 Sep;116(10):1290-9. Epub 2009 May 8 doi: 10.1111/j.1471-0528.2009.02194.x. PMID: 19438489
Nigwekar SU, Wolf M, Sterns RH, Hix JK
Clin J Am Soc Nephrol 2008 Jul;3(4):1139-43. Epub 2008 Apr 16 doi: 10.2215/CJN.00530108. PMID: 18417747Free PMC Article

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