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Abnormal localization of kidney

MedGen UID:
866621
•Concept ID:
C4020968
•
Anatomical Abnormality
Synonym: Abnormal localisation of kidneys
 
HPO: HP:0100542

Definition

An abnormal site of the kidney. [from HPO]

Professional guidelines

PubMed

Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS
Eur J Hum Genet 2021 Aug;29(8):1186-1197. Epub 2021 Apr 15 doi: 10.1038/s41431-021-00858-1. PMID: 33854215Free PMC Article
Expert consensus guidelines for the genetic diagnosis of Alport syndrome.
Savige J, Ariani F, Mari F, Bruttini M, Renieri A, Gross O, Deltas C, Flinter F, Ding J, Gale DP, Nagel M, Yau M, Shagam L, Torra R, Ars E, Hoefele J, Garosi G, Storey H
Pediatr Nephrol 2019 Jul;34(7):1175-1189. Epub 2018 Jul 9 doi: 10.1007/s00467-018-3985-4. PMID: 29987460
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article

Recent clinical studies

Etiology

Using Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Lee AM, Hu J, Xu Y, Abraham AG, Xiao R, Coresh J, Rebholz C, Chen J, Rhee EP, Feldman HI, Ramachandran VS, Kimmel PL, Warady BA, Furth SL, Denburg MR; CKD Biomarkers Consortium
J Am Soc Nephrol 2022 Feb;33(2):375-386. Epub 2022 Jan 11 doi: 10.1681/ASN.2021040538. PMID: 35017168Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Hypertension: physiology and pathophysiology.
Hall JE, Granger JP, do Carmo JM, da Silva AA, Dubinion J, George E, Hamza S, Speed J, Hall ME
Compr Physiol 2012 Oct;2(4):2393-442. doi: 10.1002/cphy.c110058. PMID: 23720252

Diagnosis

Using Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Lee AM, Hu J, Xu Y, Abraham AG, Xiao R, Coresh J, Rebholz C, Chen J, Rhee EP, Feldman HI, Ramachandran VS, Kimmel PL, Warady BA, Furth SL, Denburg MR; CKD Biomarkers Consortium
J Am Soc Nephrol 2022 Feb;33(2):375-386. Epub 2022 Jan 11 doi: 10.1681/ASN.2021040538. PMID: 35017168Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Tuberous sclerosis.
Curatolo P, Maria BL
Handb Clin Neurol 2013;111:323-31. doi: 10.1016/B978-0-444-52891-9.00038-5. PMID: 23622183
Polycystic kidney disease.
Harris PC, Torres VE
Annu Rev Med 2009;60:321-37. doi: 10.1146/annurev.med.60.101707.125712. PMID: 18947299Free PMC Article

Therapy

Acetyl-CoA synthetase 2 promotes diabetic renal tubular injury in mice by rewiring fatty acid metabolism through SIRT1/ChREBP pathway.
Lu J, Li XQ, Chen PP, Zhang JX, Li L, Wang GH, Liu XQ, Jiang CM, Ma KL
Acta Pharmacol Sin 2024 Feb;45(2):366-377. Epub 2023 Sep 28 doi: 10.1038/s41401-023-01160-0. PMID: 37770579Free PMC Article
Using Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Lee AM, Hu J, Xu Y, Abraham AG, Xiao R, Coresh J, Rebholz C, Chen J, Rhee EP, Feldman HI, Ramachandran VS, Kimmel PL, Warady BA, Furth SL, Denburg MR; CKD Biomarkers Consortium
J Am Soc Nephrol 2022 Feb;33(2):375-386. Epub 2022 Jan 11 doi: 10.1681/ASN.2021040538. PMID: 35017168Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
Polycystic Kidney Disease.
Ghata J, Cowley BD Jr
Compr Physiol 2017 Jun 18;7(3):945-975. doi: 10.1002/cphy.c160018. PMID: 28640449
Bisphosphonate nephrotoxicity.
Perazella MA, Markowitz GS
Kidney Int 2008 Dec;74(11):1385-93. Epub 2008 Aug 6 doi: 10.1038/ki.2008.356. PMID: 18685574

Prognosis

Using Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Lee AM, Hu J, Xu Y, Abraham AG, Xiao R, Coresh J, Rebholz C, Chen J, Rhee EP, Feldman HI, Ramachandran VS, Kimmel PL, Warady BA, Furth SL, Denburg MR; CKD Biomarkers Consortium
J Am Soc Nephrol 2022 Feb;33(2):375-386. Epub 2022 Jan 11 doi: 10.1681/ASN.2021040538. PMID: 35017168Free PMC Article
Urinary Tract Infections in Young Children and Infants: Common Questions and Answers.
Veauthier B, Miller MV
Am Fam Physician 2020 Sep 1;102(5):278-285. PMID: 32866365
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
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
Lowe syndrome.
Loi M
Orphanet J Rare Dis 2006 May 18;1:16. doi: 10.1186/1750-1172-1-16. PMID: 16722554Free PMC Article

Clinical prediction guides

Using Machine Learning to Identify Metabolomic Signatures of Pediatric Chronic Kidney Disease Etiology.
Lee AM, Hu J, Xu Y, Abraham AG, Xiao R, Coresh J, Rebholz C, Chen J, Rhee EP, Feldman HI, Ramachandran VS, Kimmel PL, Warady BA, Furth SL, Denburg MR; CKD Biomarkers Consortium
J Am Soc Nephrol 2022 Feb;33(2):375-386. Epub 2022 Jan 11 doi: 10.1681/ASN.2021040538. PMID: 35017168Free PMC Article
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study.
Furlano M, Martínez V, Pybus M, Arce Y, Crespí J, Venegas MDP, Bullich G, Domingo A, Ayasreh N, Benito S, Lorente L, Ruíz P, Gonzalez VL, Arlandis R, Cabello E, Torres F, Guirado L, Ars E, Torra R
Am J Kidney Dis 2021 Oct;78(4):560-570.e1. Epub 2021 Apr 7 doi: 10.1053/j.ajkd.2021.02.326. PMID: 33838161
Expert consensus document: Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement.
Brioude F, Kalish JM, Mussa A, Foster AC, Bliek J, Ferrero GB, Boonen SE, Cole T, Baker R, Bertoletti M, Cocchi G, Coze C, De Pellegrin M, Hussain K, Ibrahim A, Kilby MD, Krajewska-Walasek M, Kratz CP, Ladusans EJ, Lapunzina P, Le Bouc Y, Maas SM, Macdonald F, Õunap K, Peruzzi L, Rossignol S, Russo S, Shipster C, Skórka A, Tatton-Brown K, Tenorio J, Tortora C, Grønskov K, Netchine I, Hennekam RC, Prawitt D, Tümer Z, Eggermann T, Mackay DJG, Riccio A, Maher ER
Nat Rev Endocrinol 2018 Apr;14(4):229-249. Epub 2018 Jan 29 doi: 10.1038/nrendo.2017.166. PMID: 29377879Free PMC Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen TT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA, Sorusch N, Abdelhamed ZA, Natarajan S, Herridge W, van Reeuwijk J, Horn N, Boldt K, Parry DA, Letteboer SJF, Roosing S, Adams M, Bell SM, Bond J, Higgins J, Morrison EE, Tomlinson DC, Slaats GG, van Dam TJP, Huang L, Kessler K, Giessl A, Logan CV, Boyle EA, Shendure J, Anazi S, Aldahmesh M, Al Hazzaa S, Hegele RA, Ober C, Frosk P, Mhanni AA, Chodirker BN, Chudley AE, Lamont R, Bernier FP, Beaulieu CL, Gordon P, Pon RT, Donahue C, Barkovich AJ, Wolf L, Toomes C, Thiel CT, Boycott KM, McKibbin M, Inglehearn CF; UK10K Consortium; University of Washington Center for Mendelian Genomics, Stewart F, Omran H, Huynen MA, Sergouniotis PI, Alkuraya FS, Parboosingh JS, Innes AM, Willoughby CE, Giles RH, Webster AR, Ueffing M, Blacque O, Gleeson JG, Wolfrum U, Beales PL, Gibson T, Doherty D, Mitchison HM, Roepman R, Johnson CA
Nat Cell Biol 2015 Aug;17(8):1074-1087. Epub 2015 Jul 13 doi: 10.1038/ncb3201. PMID: 26167768Free PMC Article
Hypertension: physiology and pathophysiology.
Hall JE, Granger JP, do Carmo JM, da Silva AA, Dubinion J, George E, Hamza S, Speed J, Hall ME
Compr Physiol 2012 Oct;2(4):2393-442. doi: 10.1002/cphy.c110058. PMID: 23720252

Recent systematic reviews

Andrological effects of SARS-Cov-2 infection: a systematic review and meta-analysis.
Corona G, Vena W, Pizzocaro A, Pallotti F, Paoli D, Rastrelli G, Baldi E, Cilloni N, Gacci M, Semeraro F, Salonia A, Minhas S, Pivonello R, Sforza A, Vignozzi L, Isidori AM, Lenzi A, Maggi M, Lombardo F
J Endocrinol Invest 2022 Dec;45(12):2207-2219. Epub 2022 May 9 doi: 10.1007/s40618-022-01801-x. PMID: 35527294Free PMC Article
Range and Variability of Outcomes Reported in Randomized Trials Conducted in Patients With Polycystic Kidney Disease: A Systematic Review.
Sautenet B, Cho Y, Gutman T, Rangan G, Ong A, Chapman AB, Ahn C, Coolican H, Tze-Wah Kao J, Fowler K, Gansevoort RT, Geneste C, Perrone RD, Harris T, Torres VE, Pei Y, Craig JC, Tong A; SONG-PKD Initiative
Am J Kidney Dis 2020 Aug;76(2):213-223. Epub 2020 Mar 11 doi: 10.1053/j.ajkd.2019.12.003. PMID: 32171640
Renal structural image processing techniques: a systematic review.
Asadzadeh S, Khosroshahi HT, Abedi B, Ghasemi Y, Meshgini S
Ren Fail 2019 Nov;41(1):57-68. doi: 10.1080/0886022X.2019.1572016. PMID: 30747036Free PMC Article
Buttonhole versus rope-ladder cannulation of arteriovenous fistulas for hemodialysis: a systematic review.
Wong B, Muneer M, Wiebe N, Storie D, Shurraw S, Pannu N, Klarenbach S, Grudzinski A, Nesrallah G, Pauly RP
Am J Kidney Dis 2014 Dec;64(6):918-36. Epub 2014 Aug 8 doi: 10.1053/j.ajkd.2014.06.018. PMID: 25110302
Treatments to slow progression of autosomal dominant polycystic kidney disease: systematic review and meta-analysis of randomized trials.
Myint TM, Rangan GK, Webster AC
Nephrology (Carlton) 2014 Apr;19(4):217-26. doi: 10.1111/nep.12211. PMID: 24460701

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