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Ureteral dysgenesis

MedGen UID:
870216
Concept ID:
C4024653
Congenital Abnormality
HPO: HP:0008631

Definition

A developmental anomaly of the ureter. [from HPO]

Term Hierarchy

Conditions with this feature

Thymic-renal-anal-lung dysplasia
MedGen UID:
336425
Concept ID:
C1848812
Congenital Abnormality
This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.

Professional guidelines

PubMed

Capone V, Persico N, Berrettini A, Decramer S, De Marco EA, De Palma D, Familiari A, Feitz W, Herthelius M, Kazlauskas V, Liebau M, Manzoni G, Maternik M, Mosiello G, Schanstra JP, Vande Walle J, Wühl E, Ylinen E, Zurowska A, Schaefer F, Montini G
Nat Rev Urol 2022 May;19(5):295-303. Epub 2022 Feb 8 doi: 10.1038/s41585-022-00563-8. PMID: 35136187
Rai A, Hsieh A, Smith A
BJU Int 2022 Sep;130(3):285-290. Epub 2022 Feb 5 doi: 10.1111/bju.15689. PMID: 35044033
Yalçınkaya F, Özçakar ZB
Pediatr Nephrol 2020 Dec;35(12):2231-2239. Epub 2019 Dec 6 doi: 10.1007/s00467-019-04420-6. PMID: 31811536

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
Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free 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
Nigam A, Knoers NVAM, Renkema KY
Semin Cell Dev Biol 2019 Jul;91:104-110. Epub 2018 Sep 5 doi: 10.1016/j.semcdb.2018.08.013. PMID: 30172048
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

Diagnosis

Rai A, Hsieh A, Smith A
BJU Int 2022 Sep;130(3):285-290. Epub 2022 Feb 5 doi: 10.1111/bju.15689. PMID: 35044033
Society for Maternal-Fetal Medicine, Ghaffari N
Am J Obstet Gynecol 2021 Nov;225(5):B14-B15. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.041. PMID: 34507796
Society for Maternal-Fetal Medicine (SMFM), Osmundson SS
Am J Obstet Gynecol 2021 Nov;225(5):B16-B17. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.044. PMID: 34507789
Society for Maternal-Fetal Medicine (SMFM), Hopkins LM
Am J Obstet Gynecol 2021 Nov;225(5):B12-B13. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.040. PMID: 34507788
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

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
Capone V, Persico N, Berrettini A, Decramer S, De Marco EA, De Palma D, Familiari A, Feitz W, Herthelius M, Kazlauskas V, Liebau M, Manzoni G, Maternik M, Mosiello G, Schanstra JP, Vande Walle J, Wühl E, Ylinen E, Zurowska A, Schaefer F, Montini G
Nat Rev Urol 2022 May;19(5):295-303. Epub 2022 Feb 8 doi: 10.1038/s41585-022-00563-8. PMID: 35136187
Zimmer V, Lammert F
Dig Liver Dis 2019 Nov;51(11):1618. Epub 2019 Sep 30 doi: 10.1016/j.dld.2019.08.026. PMID: 31582325
Villanueva CA
J Pediatr Urol 2019 Aug;15(4):390.e1-390.e4. Epub 2019 May 9 doi: 10.1016/j.jpurol.2019.05.003. PMID: 31151858
Arshad M, Seed PC
Clin Perinatol 2015 Mar;42(1):17-28, vii. Epub 2014 Dec 24 doi: 10.1016/j.clp.2014.10.003. PMID: 25677994Free PMC Article

Prognosis

Lombel RM, Brakeman PR, Sack BS, Butani L
Adv Chronic Kidney Dis 2022 May;29(3):308-317. doi: 10.1053/j.ackd.2022.02.006. PMID: 36084977
Society for Maternal-Fetal Medicine, Ghaffari N
Am J Obstet Gynecol 2021 Nov;225(5):B14-B15. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.041. PMID: 34507796
Society for Maternal-Fetal Medicine (SMFM), Osmundson SS
Am J Obstet Gynecol 2021 Nov;225(5):B16-B17. Epub 2021 Sep 8 doi: 10.1016/j.ajog.2021.06.044. PMID: 34507789
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

Clinical prediction guides

Yoon SH, Kim GY, Choi GT, Do JT
Cells 2023 May 11;12(10) doi: 10.3390/cells12101365. PMID: 37408200Free PMC Article
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
Uçan AB, Şencan A
Urologia 2022 Aug;89(3):469-473. Epub 2021 May 20 doi: 10.1177/03915603211015039. PMID: 34011232
Kalantari S, Carlston C, Alsaleh N, Abdel-Salam GMH, Alkuraya F, Kato M, Matsumoto N, Miyatake S, Yamamoto T, Fares-Taie L, Rozet JM, Chassaing N, Vincent-Delorme C, Kang-Bellin A, McWalter K, Bupp C, Palen E, Wagner MD, Niceta M, Cesario C, Milone R, Kaplan J, Wadman E, Dobyns WB, Filges I
Am J Med Genet A 2021 Dec;185(12):3728-3739. Epub 2021 Aug 3 doi: 10.1002/ajmg.a.62443. PMID: 34346154Free 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

Recent systematic reviews

Kim JK, Keefe DT, Rickard M, Milford K, Lorenzo AJ, Chua ME
BJU Int 2022 Jun;129(6):679-687. Epub 2021 Feb 7 doi: 10.1111/bju.15342. PMID: 33463000
Pettit S, Chalmers D
J Pediatr Urol 2021 Dec;17(6):763-768. Epub 2021 Sep 11 doi: 10.1016/j.jpurol.2021.09.003. PMID: 34538561
Versteegh HP, Johal NS, de Blaauw I, Stanton MP
J Pediatr Urol 2016 Dec;12(6):352-360. Epub 2016 Sep 30 doi: 10.1016/j.jpurol.2016.07.019. PMID: 27733240
Ragu R, Meurette G, Kim M, Le Normand L, Lehur PA
Tech Coloproctol 2016 Nov;20(11):745-752. Epub 2016 Sep 3 doi: 10.1007/s10151-016-1519-2. PMID: 27592221
Madden-Fuentes RJ, McNamara ER, Lloyd JC, Wiener JS, Routh JC, Seed PC, Ross SS
Pediatrics 2013 Jul;132(1):132-9. doi: 10.1542/peds.2013-0557. PMID: 23796735

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