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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

Alport Syndrome: Achieving Early Diagnosis and Treatment.
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
Clinical Practice Guideline for the Management of Asymptomatic Bacteriuria: 2019 Update by the Infectious Diseases Society of America.
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
Urosepsis--Etiology, Diagnosis, and Treatment.
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

The genetics and pathogenesis of CAKUT.
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
Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.
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
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
Hereditary Renal Diseases.
Mehta L, Jim B
Semin Nephrol 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. PMID: 28711074
Hypospadias, all there is to know.
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

The genetics and pathogenesis of CAKUT.
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
Congenital Anomalies of the Upper Urinary Tract: A Comprehensive Review.
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
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
Prenatal genetic considerations of congenital anomalies of the kidney and urinary tract (CAKUT).
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
Hypospadias, all there is to know.
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

Antenatally detected urinary tract dilatation: long-term outcome.
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
A Clinical Workflow for Cost-Saving High-Rate Diagnosis of Genetic Kidney Diseases.
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
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
Management of Urethral Strictures After Hypospadias Repair.
Snodgrass WT, Bush NC
Urol Clin North Am 2017 Feb;44(1):105-111. doi: 10.1016/j.ucl.2016.08.014. PMID: 27908364
Urinary tract infection.
Nicolle LE
Crit Care Clin 2013 Jul;29(3):699-715. doi: 10.1016/j.ccc.2013.03.014. PMID: 23830659

Prognosis

The genetics and pathogenesis of CAKUT.
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
Management of the congenital solitary kidney: consensus recommendations of the Italian Society of Pediatric Nephrology.
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
Renal agenesis.
Society for Maternal-Fetal Medicine (SMFM), Jelin A
Am J Obstet Gynecol 2021 Nov;225(5):B28-B30. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.048. PMID: 34507792
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
Whole-Exome Sequencing Identifies Causative Mutations in Families with Congenital Anomalies of the Kidney and Urinary Tract.
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

Clinical prediction guides

Antenatally detected urinary tract dilatation: long-term outcome.
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
Management of antenatally detected kidney malformations.
Yulia A, Winyard P
Early Hum Dev 2018 Nov;126:38-46. Epub 2018 Sep 10 doi: 10.1016/j.earlhumdev.2018.08.017. PMID: 30213573
Urinary biomarkers for renal tract malformations.
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
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
Dysplastic kidneys.
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

Recent systematic reviews

Kidney Ultrasonography After First Febrile Urinary Tract Infection in Children: A Systematic Review and Meta-analysis.
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
An update of the aetiological factors involved in molar incisor hypomineralisation (MIH): a systematic review and meta-analysis.
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
EAU/ESPU guidelines on the management of neurogenic bladder in children and adolescent part I diagnostics and conservative treatment.
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
Epidemiology of IgA Nephropathy: A Global Perspective.
Schena FP, Nistor I
Semin Nephrol 2018 Sep;38(5):435-442. doi: 10.1016/j.semnephrol.2018.05.013. PMID: 30177015
Duration of antibiotic treatment for acute pyelonephritis and septic urinary tract infection-- 7 days or less versus longer treatment: systematic review and meta-analysis of randomized controlled trials.
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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