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Ureterocele

MedGen UID:
21778
Concept ID:
C0041960
Acquired Abnormality
Synonym: Ureteroceles
SNOMED CT: Ureterocele (12818004)
 
HPO: HP:0000070
Monarch Initiative: MONDO:0008628
OMIM®: 191650

Definition

A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. [from HPO]

Clinical features

From HPO
Ureterocele
MedGen UID:
21778
Concept ID:
C0041960
Acquired Abnormality
A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
Duplicated collecting system
MedGen UID:
346936
Concept ID:
C1858565
Anatomical Abnormality
A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice.

Conditions with this feature

Ureterocele
MedGen UID:
21778
Concept ID:
C0041960
Acquired Abnormality
A ureterocele is a congenital saccular dilatation of the distal segment of the ureter.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
MedGen UID:
343663
Concept ID:
C1851841
Disease or Syndrome
An EEC syndrome characterized by autosomal dominant inheritance that has material basis in variation in the chromosome region 7q11.2-q21.3.
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
MedGen UID:
347666
Concept ID:
C1858562
Disease or Syndrome
The TP63-related disorders comprise six overlapping phenotypes: Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (which includes Rapp-Hodgkin syndrome). Acro-dermo-ungual-lacrimal-tooth (ADULT) syndrome. Ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome 3 (EEC3). Limb-mammary syndrome. Split-hand/foot malformation type 4 (SHFM4). Isolated cleft lip/cleft palate (orofacial cleft 8). Individuals typically have varying combinations of ectodermal dysplasia (hypohidrosis, nail dysplasia, sparse hair, tooth abnormalities), cleft lip/palate, split-hand/foot malformation/syndactyly, lacrimal duct obstruction, hypopigmentation, hypoplastic breasts and/or nipples, and hypospadias. Findings associated with a single phenotype include ankyloblepharon filiforme adnatum (tissue strands that completely or partially fuse the upper and lower eyelids), skin erosions especially on the scalp associated with areas of scarring, and alopecia, trismus, and excessive freckling.
Peroxisome biogenesis disorder 4B
MedGen UID:
766851
Concept ID:
C3553937
Disease or Syndrome
Peroxisome biogenesis disorder-4B (PBD4B) includes the overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), which represent milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders (PBDs). The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012). For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see 601539. Individuals with mutations in the PEX6 gene have cells of complementation group 4 (CG4, equivalent to CG6 and CGC). For information on the history of PBD complementation groups, see 214100.
Skin creases, congenital symmetric circumferential, 2
MedGen UID:
902880
Concept ID:
C4225225
Congenital Abnormality
Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). For a discussion of genetic heterogeneity of congenital symmetric circumferential skin creases, see CSCSC1 (156610).

Professional guidelines

PubMed

Rivetti G, Marzuillo P, Guarino S, Di Sessa A, La Manna A, Caldamone AA, Papparella A, Noviello C
Eur J Pediatr 2024 May;183(5):2029-2036. Epub 2024 Mar 5 doi: 10.1007/s00431-024-05494-7. PMID: 38441661Free PMC Article
Deeg KH
Ultraschall Med 2022 Aug;43(4):332-353. Epub 2022 Apr 29 doi: 10.1055/a-1749-5136. PMID: 35488089
Pohl HG
Curr Opin Urol 2011 Jul;21(4):322-7. doi: 10.1097/MOU.0b013e328346d455. PMID: 21519275

Recent clinical studies

Etiology

Wang J, Zhao Y, Chen Z, Geng H, Fang X
Pediatr Surg Int 2023 May 16;39(1):200. doi: 10.1007/s00383-023-05442-w. PMID: 37191737
Bada Bosch I, De Palacio A, Fernández Bautista B, Ordóñez J, Ortiz R, Burgos L, Parente A, Angulo JM
Cir Pediatr 2023 Apr 1;36(2):78-82. doi: 10.54847/cp.2023.02.15. PMID: 37093117
Keene DJB, Subramaniam R
J Pediatr Urol 2020 Jun;16(3):387.e1-387.e8. Epub 2020 Mar 30 doi: 10.1016/j.jpurol.2020.03.005. PMID: 32340881
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
Mariyappa B, Barker A, Samnakay N, Khosa J
J Paediatr Child Health 2014 Feb;50(2):96-9. Epub 2013 Dec 23 doi: 10.1111/jpc.12474. PMID: 24372828

Diagnosis

Deeg KH
Ultraschall Med 2022 Aug;43(4):332-353. Epub 2022 Apr 29 doi: 10.1055/a-1749-5136. PMID: 35488089
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
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
Debenedectis CM, Levine D
Ultrasound Q 2012 Dec;28(4):293-8. doi: 10.1097/RUQ.0b013e3182749444. PMID: 23149507
Kroovand RL
Urol Clin North Am 1983 Aug;10(3):445-9. PMID: 6623734

Therapy

Bada Bosch I, De Palacio A, Fernández Bautista B, Ordóñez J, Ortiz R, Burgos L, Parente A, Angulo JM
Cir Pediatr 2023 Apr 1;36(2):78-82. doi: 10.54847/cp.2023.02.15. PMID: 37093117
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
Mizuno K, Kojima Y, Nishio H, Hoshi S, Sato Y, Hayashi Y
Asian J Endosc Surg 2018 Nov;11(4):308-317. Epub 2018 Sep 27 doi: 10.1111/ases.12653. PMID: 30264441
Castagnetti M, Cimador M, Esposito C, Rigamonti W
Nat Rev Urol 2012 May 8;9(6):321-9. doi: 10.1038/nrurol.2012.89. PMID: 22565372
Hadfield GJ
Ann R Coll Surg Engl 1972 Jan;50(1):45-53. PMID: 5062021Free PMC Article

Prognosis

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
Milani R, Manodoro S, Cola A, Palmieri S, Reato C, Frigerio M
Int Braz J Urol 2020 Mar-Apr;46(2):298-299. doi: 10.1590/S1677-5538.IBJU.2018.0761. PMID: 32022530Free PMC Article
Turkyilmaz G, Cetin B, Sivrikoz T, Erturk E, Oktar T, Kalelioglu I, Has R, Yuksel A
Taiwan J Obstet Gynecol 2019 Jul;58(4):531-535. doi: 10.1016/j.tjog.2019.05.018. PMID: 31307746
Johnson EK, Malhotra NR, Shannon R, Jacobson DL, Green J, Rigsby CK, Holl JL, Cheng EY
J Pediatr Urol 2017 Aug;13(4):384.e1-384.e7. Epub 2017 May 25 doi: 10.1016/j.jpurol.2017.04.018. PMID: 28579135
Mariyappa B, Barker A, Samnakay N, Khosa J
J Paediatr Child Health 2014 Feb;50(2):96-9. Epub 2013 Dec 23 doi: 10.1111/jpc.12474. PMID: 24372828

Clinical prediction guides

Oktar T, Selvi I, Kart M, Dönmez Mİ, Çetin B, Boyuk A, Ziylan O
J Pediatr Surg 2023 Aug;58(8):1566-1572. Epub 2022 Sep 17 doi: 10.1016/j.jpedsurg.2022.09.002. PMID: 36241446
Johnson EK, Malhotra NR, Shannon R, Jacobson DL, Green J, Rigsby CK, Holl JL, Cheng EY
J Pediatr Urol 2017 Aug;13(4):384.e1-384.e7. Epub 2017 May 25 doi: 10.1016/j.jpurol.2017.04.018. PMID: 28579135
Castagnetti M, Cimador M, Esposito C, Rigamonti W
Nat Rev Urol 2012 May 8;9(6):321-9. doi: 10.1038/nrurol.2012.89. PMID: 22565372
Uetani N, Bouchard M
Clin Genet 2009 Apr;75(4):307-17. doi: 10.1111/j.1399-0004.2009.01175.x. PMID: 19419410
Halachmi S, Pillar G
J Pediatr Urol 2008 Feb;4(1):2-7. Epub 2007 Apr 27 doi: 10.1016/j.jpurol.2007.03.001. PMID: 18631884

Recent systematic reviews

Alsaikhan B, Abugamza F, Almuhanna A, Bakarmom M, Alhussaini S, Hajek D
Curr Urol Rep 2023 Dec;24(12):591-600. Epub 2023 Nov 9 doi: 10.1007/s11934-023-01190-5. PMID: 37943428
Wahyudi I, Risky Raharja PA, Situmorang GR, Rodjani A
J Pediatr Urol 2023 Oct;19(5):626-636. Epub 2023 May 11 doi: 10.1016/j.jpurol.2023.05.003. PMID: 37244837
Bascietto F, Khalil A, Rizzo G, Makatsariya A, Buca D, Silvi C, Ucci M, Liberati M, Familiari A, D'Antonio F
Prenat Diagn 2020 Mar;40(4):424-431. Epub 2020 Jan 28 doi: 10.1002/pd.5622. PMID: 31834636
Byun E, Merguerian PA
J Urol 2006 Oct;176(4 Pt 2):1871-7; discussion 1877. doi: 10.1016/S0022-5347(06)00601-X. PMID: 16945677

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