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Inherited genitourinary tract anomalies

MedGen UID:
375438
Concept ID:
C1844502
Congenital Abnormality
Synonym: Genitourinary tract anomalies
 
OMIM®: 305690

Clinical features

From HPO
Abnormality of the genitourinary system
MedGen UID:
52948
Concept ID:
C0042063
Congenital Abnormality
The presence of any abnormality of the genitourinary system.

Professional guidelines

PubMed

Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, 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, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
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
Stamou MI, Georgopoulos NA
Metabolism 2018 Sep;86:124-134. Epub 2017 Nov 3 doi: 10.1016/j.metabol.2017.10.012. PMID: 29108899Free PMC Article

Recent clinical studies

Etiology

Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, 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, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
Da Costa LM, Marie I, Leblanc TM
Hematology Am Soc Hematol Educ Program 2021 Dec 10;2021(1):353-360. doi: 10.1182/hematology.2021000314. PMID: 34889440Free PMC Article
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
Zhang Y, Böckhaus J, Wang F, Wang S, Rubel D, Gross O, Ding J
Pediatr Nephrol 2021 Sep;36(9):2719-2730. Epub 2021 Mar 27 doi: 10.1007/s00467-021-05040-9. PMID: 33772369Free PMC Article
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717

Diagnosis

Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, 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, Renieri A, Storey H, Flinter F
Clin J Am Soc Nephrol 2022 Jan;17(1):143-154. Epub 2021 Dec 20 doi: 10.2215/CJN.04230321. PMID: 34930753Free PMC Article
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
Török D
Exp Suppl 2019;111:245-260. doi: 10.1007/978-3-030-25905-1_12. PMID: 31588535
Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A
J Clin Endocrinol Metab 2013 Jan;98(1):20-30. Epub 2012 Nov 1 doi: 10.1210/jc.2012-2382. PMID: 23118429
Hingorani M, Hanson I, van Heyningen V
Eur J Hum Genet 2012 Oct;20(10):1011-7. Epub 2012 Jun 13 doi: 10.1038/ejhg.2012.100. PMID: 22692063Free PMC Article

Therapy

Lee SC, Baranowski ES, Sakremath R, Saraff V, Mohamed Z
Front Endocrinol (Lausanne) 2023;14:1198519. Epub 2023 Nov 20 doi: 10.3389/fendo.2023.1198519. PMID: 38053731Free PMC Article
Torra R, Furlano M
Nephrol Dial Transplant 2019 Aug 1;34(8):1272-1279. doi: 10.1093/ndt/gfz131. PMID: 31190059
Nermoen I, Husebye ES, Myhre AG, Løvås K
Tidsskr Nor Laegeforen 2017 Apr;137(7):540-543. Epub 2017 Apr 4 doi: 10.4045/tidsskr.16.0376. PMID: 28383228
Noone D, Licht C
Pediatr Nephrol 2013 Jul;28(7):1025-36. Epub 2012 Aug 18 doi: 10.1007/s00467-012-2272-z. PMID: 22903660
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649

Prognosis

Chavez E, Goncalves S, Rheault MN, Fornoni A
Adv Kidney Dis Health 2024 May;31(3):170-179. doi: 10.1053/j.akdh.2024.02.004. PMID: 39004457
Glazova O, Bastrich A, Deviatkin A, Onyanov N, Kaziakhmedova S, Shevkova L, Sakr N, Petrova D, Vorontsova MV, Volchkov P
Int J Mol Sci 2023 Mar 10;24(6) doi: 10.3390/ijms24065365. PMID: 36982440Free PMC Article
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT
Clin J Am Soc Nephrol 2022 Nov;17(11):1697-1706. Epub 2022 Jun 8 doi: 10.2215/CJN.03120322. PMID: 35675912Free PMC Article
Török D
Exp Suppl 2019;111:245-260. doi: 10.1007/978-3-030-25905-1_12. PMID: 31588535
Kulkarni ML, Balaji MD, Kulkarni AM, Sushanth S, Kulkarni BM
Indian J Pediatr 2007 Dec;74(12):1113-5. doi: 10.1007/s12098-007-0209-5. PMID: 18174649

Clinical prediction guides

Boisson M, Arrondel C, Cagnard N, Morinière V, Arkoub ZA, Saei H, Heidet L, Kachmar J, Hummel A, Knebelmann B, Bonnet-Dupeyron MN, Isidor B, Izzedine H, Legrand E, Couarch P, Gribouval O, Bole-Feysot C, Parisot M, Nitschké P, Antignac C, Dorval G
Kidney Int 2023 Aug;104(2):367-377. Epub 2023 May 23 doi: 10.1016/j.kint.2023.05.006. PMID: 37230224
Savige J, Renieri A, Ars E, Daga S, Pinto AM, Rothe H, Gale DP, Aksenova M, Cerkauskaite A, Bielska O, Lipska-Zietkiewicz B, Gibson JT
Clin J Am Soc Nephrol 2022 Nov;17(11):1697-1706. Epub 2022 Jun 8 doi: 10.2215/CJN.03120322. PMID: 35675912Free PMC Article
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
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
Cobben JM, Oostra RJ, van Dijk FS
Eur J Med Genet 2014 Aug;57(8):414-7. Epub 2014 May 10 doi: 10.1016/j.ejmg.2014.04.017. PMID: 24821303

Recent systematic reviews

Navarro-Zambrana AN, Sheets LR
Horm Res Paediatr 2023;96(3):249-258. Epub 2022 Aug 16 doi: 10.1159/000526401. PMID: 35973409
Gomes AM, Lopes D, Almeida C, Santos S, Malheiro J, Lousa I, Caldas Afonso A, Beirão I
Int J Mol Sci 2022 Jun 30;23(13) doi: 10.3390/ijms23137276. PMID: 35806283Free PMC Article
León NY, Harley VR
Hum Genet 2021 Dec;140(12):1625-1634. Epub 2021 Sep 15 doi: 10.1007/s00439-021-02361-5. PMID: 34524523
van Dijk MM, Kolte AM, Limpens J, Kirk E, Quenby S, van Wely M, Goddijn M
Hum Reprod Update 2020 Apr 15;26(3):356-367. doi: 10.1093/humupd/dmz048. PMID: 32103270Free PMC Article
Sheriff FR, Lopez A, Lupo PJ, Seth A, Jorgez C, Agopian AJ
Birth Defects Res 2019 Jan 1;111(1):9-15. Epub 2018 Nov 8 doi: 10.1002/bdr2.1415. PMID: 30411533

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