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Urachal cyst

MedGen UID:
21770
Concept ID:
C0041915
Congenital Abnormality; Finding; Finding
Synonym: Urachal cyst (disease)
SNOMED CT: Congenital cyst of urachus (17234001); Congenital urachal cyst (17234001); Urachal cyst (17234001)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0012618
Monarch Initiative: MONDO:0018844
Orphanet: ORPHA488

Definition

A cyst located along the allantois canal. [from HPO]

Conditions with this feature

Neutrophil immunodeficiency syndrome
MedGen UID:
374920
Concept ID:
C1842398
Disease or Syndrome
Immunodeficiency-73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) is an immunologic disorder characterized by onset of recurrent infections in early infancy. Affected infants have periumbilical erythema and later develop skin abscesses and invasive infections. Laboratory studies show leukocytosis, neutrophilia, decreased TRECs, and T-cell abnormalities. Neutrophils showed decreased chemotaxis associated with actin polymerization abnormalities, as well as variably impaired oxidative responses. Hematopoietic stem cell transplant may be curative (summary by Accetta et al., 2011; review by Lougaris et al., 2020). In a review of autosomal forms of chronic granulomatous disease (see 306400 for genetic heterogeneity of CGD), Roos et al. (2021) noted that patients with RAC2 mutations may manifest CGD-like symptoms due to defects in neutrophil NADPH oxidase activity.

Professional guidelines

PubMed

Perez D, Neeman B, Kocherov S, Jaber G, Armon Y, Zilber S, Chertin B
Pediatr Surg Int 2022 Nov;38(11):1619-1623. Epub 2022 Aug 15 doi: 10.1007/s00383-022-05194-z. PMID: 35969254
Nogueras-Ocaña M, Rodríguez-Belmonte R, Uberos-Fernández J, Jiménez-Pacheco A, Merino-Salas S, Zuluaga-Gómez A
J Pediatr Urol 2014 Jun;10(3):522-6. Epub 2013 Nov 28 doi: 10.1016/j.jpurol.2013.11.010. PMID: 24321777
Naiditch JA, Radhakrishnan J, Chin AC
J Pediatr Surg 2013 Oct;48(10):2148-52. doi: 10.1016/j.jpedsurg.2013.02.069. PMID: 24094971

Recent clinical studies

Etiology

Gkalonaki I, Patoulias I, Anastasakis M, Panteli C, Patoulias D
Folia Med Cracov 2023 Dec 30;63(4):81-88. doi: 10.24425/fmc.2023.148760. PMID: 38578347
Orbatu D, Alaygut D
Pediatr Int 2020 Oct;62(10):1158-1161. Epub 2020 Sep 25 doi: 10.1111/ped.14272. PMID: 32347613
Schiffman JS
J Emerg Med 2018 Sep;55(3):333-338. Epub 2018 Jul 30 doi: 10.1016/j.jemermed.2018.05.023. PMID: 30072186
Parada Villavicencio C, Adam SZ, Nikolaidis P, Yaghmai V, Miller FH
Radiographics 2016 Nov-Dec;36(7):2049-2063. doi: 10.1148/rg.2016160062. PMID: 27831842
Upadhyay V, Kukkady A
Eur J Pediatr Surg 2003 Dec;13(6):372-6. doi: 10.1055/s-2003-44725. PMID: 14743323

Diagnosis

Gkalonaki I, Patoulias I, Anastasakis M, Panteli C, Patoulias D
Folia Med Cracov 2023 Dec 30;63(4):81-88. doi: 10.24425/fmc.2023.148760. PMID: 38578347
Buddha S, Menias CO, Katabathina VS
Abdom Radiol (NY) 2019 Dec;44(12):3978-3989. doi: 10.1007/s00261-019-02205-x. PMID: 31478084
Potisek N, Weihe J
N Engl J Med 2016 Dec 29;375(26):2582. doi: 10.1056/NEJMicm1601380. PMID: 28029928
Lee S, Srinivasan B, Vemulapati S, Mehta S, Erickson D
Lab Chip 2016 Jul 7;16(13):2408-17. Epub 2016 Jun 8 doi: 10.1039/c6lc00393a. PMID: 27272753
Upadhyay V, Kukkady A
Eur J Pediatr Surg 2003 Dec;13(6):372-6. doi: 10.1055/s-2003-44725. PMID: 14743323

Therapy

Xu L, Sun B, Gao Z, Bu X, Wan Y, Chen J
Clin Lab 2023 Dec 1;69(12) doi: 10.7754/Clin.Lab.2023.230622. PMID: 38084683
Gao H, Chen J, Li G, Cui X, Sun F
BMC Urol 2021 Sep 15;21(1):128. doi: 10.1186/s12894-021-00893-6. PMID: 34526006Free PMC Article
Sengupta T, Majumder R, Majumder S
Mol Cell Biochem 2021 Jun;476(6):2421-2427. Epub 2021 Feb 18 doi: 10.1007/s11010-021-04093-6. PMID: 33604809Free PMC Article
Siddiqui SH, Awan KH, Javed F
Photodiagnosis Photodyn Ther 2013 Dec;10(4):632-43. Epub 2013 Aug 14 doi: 10.1016/j.pdpdt.2013.07.006. PMID: 24192536
Siefker-Radtke A
Expert Rev Anticancer Ther 2006 Dec;6(12):1715-21. doi: 10.1586/14737140.6.12.1715. PMID: 17181485

Prognosis

Orbatu D, Alaygut D
Pediatr Int 2020 Oct;62(10):1158-1161. Epub 2020 Sep 25 doi: 10.1111/ped.14272. PMID: 32347613
Schiffman JS
J Emerg Med 2018 Sep;55(3):333-338. Epub 2018 Jul 30 doi: 10.1016/j.jemermed.2018.05.023. PMID: 30072186
Ruiz Campo L, Savirón Cornudella R, Gámez Alderete F, Martínez-Payo C, Pérez Pérez P, Garrido Fernández P, Lerma Puertas D
Taiwan J Obstet Gynecol 2017 Oct;56(5):622-627. doi: 10.1016/j.tjog.2017.08.008. PMID: 29037547
Upadhyay V, Kukkady A
Eur J Pediatr Surg 2003 Dec;13(6):372-6. doi: 10.1055/s-2003-44725. PMID: 14743323
Yu JS, Kim KW, Lee HJ, Lee YJ, Yoon CS, Kim MJ
Radiographics 2001 Mar-Apr;21(2):451-61. doi: 10.1148/radiographics.21.2.g01mr02451. PMID: 11259707

Clinical prediction guides

Orbatu D, Alaygut D
Pediatr Int 2020 Oct;62(10):1158-1161. Epub 2020 Sep 25 doi: 10.1111/ped.14272. PMID: 32347613
Siefker-Radtke A
Expert Rev Anticancer Ther 2006 Dec;6(12):1715-21. doi: 10.1586/14737140.6.12.1715. PMID: 17181485
Yu JS, Kim KW, Lee HJ, Lee YJ, Yoon CS, Kim MJ
Radiographics 2001 Mar-Apr;21(2):451-61. doi: 10.1148/radiographics.21.2.g01mr02451. PMID: 11259707
Fujimoto K, Samma S, Akiyama T, Tanaka N, Hirayama A, Nakayama A
Int J Urol 2000 Jul;7(7):274-6. doi: 10.1046/j.1442-2042.2000.00188.x. PMID: 10910231
Suita S, Nagasaki A
Semin Pediatr Surg 1996 May;5(2):107-15. PMID: 9138709

Recent systematic reviews

Siddiqui SH, Awan KH, Javed F
Photodiagnosis Photodyn Ther 2013 Dec;10(4):632-43. Epub 2013 Aug 14 doi: 10.1016/j.pdpdt.2013.07.006. PMID: 24192536

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