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Non-syndromic renal or urinary tract malformation

MedGen UID:
1843243
Concept ID:
C5681585
Congenital Abnormality
Orphanet: ORPHA93546

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Non-syndromic renal or urinary tract malformation

Professional guidelines

PubMed

Kashtan CE
Am J Kidney Dis 2021 Feb;77(2):272-279. Epub 2020 Jul 22 doi: 10.1053/j.ajkd.2020.03.026. PMID: 32712016
Nicolle LE, Gupta K, Bradley SF, Colgan R, DeMuri GP, Drekonja D, Eckert LO, Geerlings SE, Köves B, Hooton TM, Juthani-Mehta M, Knight SL, Saint S, Schaeffer AJ, Trautner B, Wullt B, Siemieniuk R
Clin Infect Dis 2019 May 2;68(10):e83-e110. doi: 10.1093/cid/ciy1121. PMID: 30895288
Dreger NM, Degener S, Ahmad-Nejad P, Wöbker G, Roth S
Dtsch Arztebl Int 2015 Dec 4;112(49):837-47; quiz 848. doi: 10.3238/arztebl.2015.0837. PMID: 26754121Free PMC Article

Recent clinical studies

Etiology

Kolvenbach CM, Shril S, Hildebrandt F
Nat Rev Nephrol 2023 Nov;19(11):709-720. Epub 2023 Jul 31 doi: 10.1038/s41581-023-00742-9. PMID: 37524861
La Scola C, Ammenti A, Bertulli C, Bodria M, Brugnara M, Camilla R, Capone V, Casadio L, Chimenz R, Conte ML, Conversano E, Corrado C, Guarino S, Luongo I, Marsciani M, Marzuillo P, Meneghesso D, Pennesi M, Pugliese F, Pusceddu S, Ravaioli E, Taroni F, Vergine G, Peruzzi L, Montini G
Pediatr Nephrol 2022 Sep;37(9):2185-2207. Epub 2022 Jun 17 doi: 10.1007/s00467-022-05528-y. PMID: 35713730Free PMC Article
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
Mehta L, Jim B
Semin Nephrol 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. PMID: 28711074
van der Horst HJ, de Wall LL
Eur J Pediatr 2017 Apr;176(4):435-441. Epub 2017 Feb 11 doi: 10.1007/s00431-017-2864-5. PMID: 28190103Free PMC Article

Diagnosis

Kolvenbach CM, Shril S, Hildebrandt F
Nat Rev Nephrol 2023 Nov;19(11):709-720. Epub 2023 Jul 31 doi: 10.1038/s41581-023-00742-9. PMID: 37524861
Houat AP, Guimarães CTS, Takahashi MS, Rodi GP, Gasparetto TPD, Blasbalg R, Velloni FG
Radiographics 2021 Mar-Apr;41(2):462-486. Epub 2021 Jan 29 doi: 10.1148/rg.2021200078. PMID: 33513074
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
Talati AN, Webster CM, Vora NL
Prenat Diagn 2019 Aug;39(9):679-692. Epub 2019 Aug 5 doi: 10.1002/pd.5536. PMID: 31343747Free PMC Article
van der Horst HJ, de Wall LL
Eur J Pediatr 2017 Apr;176(4):435-441. Epub 2017 Feb 11 doi: 10.1007/s00431-017-2864-5. PMID: 28190103Free PMC Article

Therapy

Herthelius M
Pediatr Nephrol 2023 Oct;38(10):3221-3227. Epub 2023 Mar 15 doi: 10.1007/s00467-023-05907-z. PMID: 36920569Free PMC Article
Becherucci F, Landini S, Palazzo V, Cirillo L, Raglianti V, Lugli G, Tiberi L, Dirupo E, Bellelli S, Mazzierli T, Lomi J, Ravaglia F, Sansavini G, Allinovi M, Giannese D, Somma C, Spatoliatore G, Vergani D, Artuso R, Rosati A, Cirami C, Dattolo PC, Campolo G, De Chiara L, Papi L, Vaglio A, Lazzeri E, Anders HJ, Mazzinghi B, Romagnani P
J Am Soc Nephrol 2023 Apr 1;34(4):706-720. Epub 2023 Jan 17 doi: 10.1681/ASN.0000000000000076. PMID: 36753701Free PMC Article
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
Shi H, Enriquez A, Rapadas M, Martin EMMA, Wang R, Moreau J, Lim CK, Szot JO, Ip E, Hughes JN, Sugimoto K, Humphreys DT, McInerney-Leo AM, Leo PJ, Maghzal GJ, Halliday J, Smith J, Colley A, Mark PR, Collins F, Sillence DO, Winlaw DS, Ho JWK, Guillemin GJ, Brown MA, Kikuchi K, Thomas PQ, Stocker R, Giannoulatou E, Chapman G, Duncan EL, Sparrow DB, Dunwoodie SL
N Engl J Med 2017 Aug 10;377(6):544-552. doi: 10.1056/NEJMoa1616361. PMID: 28792876
Nicolle LE
Crit Care Clin 2013 Jul;29(3):699-715. doi: 10.1016/j.ccc.2013.03.014. PMID: 23830659

Prognosis

Kolvenbach CM, Shril S, Hildebrandt F
Nat Rev Nephrol 2023 Nov;19(11):709-720. Epub 2023 Jul 31 doi: 10.1038/s41581-023-00742-9. PMID: 37524861
La Scola C, Ammenti A, Bertulli C, Bodria M, Brugnara M, Camilla R, Capone V, Casadio L, Chimenz R, Conte ML, Conversano E, Corrado C, Guarino S, Luongo I, Marsciani M, Marzuillo P, Meneghesso D, Pennesi M, Pugliese F, Pusceddu S, Ravaioli E, Taroni F, Vergine G, Peruzzi L, Montini G
Pediatr Nephrol 2022 Sep;37(9):2185-2207. Epub 2022 Jun 17 doi: 10.1007/s00467-022-05528-y. PMID: 35713730Free PMC Article
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
van der Ven AT, Connaughton DM, Ityel H, Mann N, Nakayama M, Chen J, Vivante A, Hwang DY, Schulz J, Braun DA, Schmidt JM, Schapiro D, Schneider R, Warejko JK, Daga A, Majmundar AJ, Tan W, Jobst-Schwan T, Hermle T, Widmeier E, Ashraf S, Amar A, Hoogstraaten CA, Hugo H, Kitzler TM, Kause F, Kolvenbach CM, Dai R, Spaneas L, Amann K, Stein DR, Baum MA, Somers MJG, Rodig NM, Ferguson MA, Traum AZ, Daouk GH, Bogdanović R, Stajić N, Soliman NA, Kari JA, El Desoky S, Fathy HM, Milosevic D, Al-Saffar M, Awad HS, Eid LA, Selvin A, Senguttuvan P, Sanna-Cherchi S, Rehm HL, MacArthur DG, Lek M, Laricchia KM, Wilson MW, Mane SM, Lifton RP, Lee RS, Bauer SB, Lu W, Reutter HM, Tasic V, Shril S, Hildebrandt F
J Am Soc Nephrol 2018 Sep;29(9):2348-2361. Epub 2018 Aug 24 doi: 10.1681/ASN.2017121265. PMID: 30143558Free PMC Article
Magalhães P, Schanstra JP, Carrick E, Mischak H, Zürbig P
Expert Rev Proteomics 2016 Dec;13(12):1121-1129. Epub 2016 Nov 15 doi: 10.1080/14789450.2016.1254555. PMID: 27791437Free PMC Article

Clinical prediction guides

McClelland K, Li W, Rosenblum ND
Am J Med Genet C Semin Med Genet 2022 Sep;190(3):264-278. Epub 2022 Sep 27 doi: 10.1002/ajmg.c.31999. PMID: 36165461
Magalhães P, Schanstra JP, Carrick E, Mischak H, Zürbig P
Expert Rev Proteomics 2016 Dec;13(12):1121-1129. Epub 2016 Nov 15 doi: 10.1080/14789450.2016.1254555. PMID: 27791437Free PMC Article
Gubler MC
Pediatr Nephrol 2014 Jan;29(1):51-9. Epub 2013 May 1 doi: 10.1007/s00467-013-2480-1. PMID: 23636579
Winyard P, Chitty LS
Semin Fetal Neonatal Med 2008 Jun;13(3):142-51. Epub 2007 Dec 11 doi: 10.1016/j.siny.2007.10.009. PMID: 18065301
Girard C, Bigorre M, Guillot B, Bessis D
Arch Dermatol 2006 Jul;142(7):884-8. doi: 10.1001/archderm.142.7.884. PMID: 16847205

Recent systematic reviews

Yang S, Gill PJ, Anwar MR, Nurse K, Mahood Q, Borkhoff CM, Bijelic V, Parkin PC, Mahant S; Canadian Paediatric Inpatient Research Network (PIRN)
JAMA Pediatr 2023 Aug 1;177(8):764-773. doi: 10.1001/jamapediatrics.2023.1387. PMID: 37252727Free PMC Article
Garot E, Rouas P, Somani C, Taylor GD, Wong F, Lygidakis NA
Eur Arch Paediatr Dent 2022 Feb;23(1):23-38. Epub 2021 Jun 24 doi: 10.1007/s40368-021-00646-x. PMID: 34164793
Stein R, Bogaert G, Dogan HS, Hoen L, Kocvara R, Nijman RJM, Quadackers JSLT, Rawashdeh YF, Silay MS, Tekgul S, Radmayr C
Neurourol Urodyn 2020 Jan;39(1):45-57. Epub 2019 Nov 13 doi: 10.1002/nau.24211. PMID: 31724222
Schena FP, Nistor I
Semin Nephrol 2018 Sep;38(5):435-442. doi: 10.1016/j.semnephrol.2018.05.013. PMID: 30177015
Eliakim-Raz N, Yahav D, Paul M, Leibovici L
J Antimicrob Chemother 2013 Oct;68(10):2183-91. Epub 2013 May 21 doi: 10.1093/jac/dkt177. PMID: 23696620

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