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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

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
Ortiz Sánchez L, Alonso Prieto MA, Campanario Pérez F, Alvarez-Silva I, De Cabo Ripoll M, García Díez F
Arch Esp Urol 2017 Apr;70(3):357-360. PMID: 28422038
Siow SL, Mahendran HA, Hardin M
Asian J Surg 2015 Apr;38(2):85-90. Epub 2014 Jun 16 doi: 10.1016/j.asjsur.2014.04.009. PMID: 24947766
McQuaid JW, Gorman EF, Johnson EK, Cilento BG
Urology 2014 Dec;84(6):1496-8. doi: 10.1016/j.urology.2014.08.003. PMID: 25432845
Siefker-Radtke A
Expert Rev Anticancer Ther 2006 Dec;6(12):1715-21. doi: 10.1586/14737140.6.12.1715. PMID: 17181485

Diagnosis

Gural Z, Yücel S, Oskeroğlu S, Ağaoğlu F
J Cancer Res Ther 2022 Jan-Mar;18(1):291-293. doi: 10.4103/jcrt.JCRT_28_20. PMID: 35381804
Potisek N, Weihe J
N Engl J Med 2016 Dec 29;375(26):2582. doi: 10.1056/NEJMicm1601380. PMID: 28029928
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
Guarnaccia SP, Mullins TL, Sant GR
Urology 1990 Jul;36(1):61-5. doi: 10.1016/0090-4295(90)80315-e. PMID: 2195743

Therapy

Kamel K, Nasr H, Tawfik S, Azzam A, Elsaid M, Qinawy M, Kamal A, Taher H
BMC Pediatr 2023 Mar 31;23(1):147. doi: 10.1186/s12887-023-03962-x. PMID: 37004016Free 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
Ueda Y, Oki M
CMAJ 2019 May 21;191(20):E562. doi: 10.1503/cmaj.181400. PMID: 31113786Free PMC Article
McQuaid JW, Gorman EF, Johnson EK, Cilento BG
Urology 2014 Dec;84(6):1496-8. doi: 10.1016/j.urology.2014.08.003. PMID: 25432845
Siefker-Radtke A
Expert Rev Anticancer Ther 2006 Dec;6(12):1715-21. doi: 10.1586/14737140.6.12.1715. PMID: 17181485

Prognosis

Miklovic T, Davis P
Mil Med 2023 Mar 20;188(3-4):e882-e884. doi: 10.1093/milmed/usab180. PMID: 33929544
Siow SL, Mahendran HA, Hardin M
Asian J Surg 2015 Apr;38(2):85-90. Epub 2014 Jun 16 doi: 10.1016/j.asjsur.2014.04.009. PMID: 24947766
McQuaid JW, Gorman EF, Johnson EK, Cilento BG
Urology 2014 Dec;84(6):1496-8. doi: 10.1016/j.urology.2014.08.003. PMID: 25432845
Chen H, Niu ZB, Yang Y
Urology 2012 Feb;79(2):434-6. Epub 2011 Aug 5 doi: 10.1016/j.urology.2011.06.011. PMID: 21820699
Siefker-Radtke A
Expert Rev Anticancer Ther 2006 Dec;6(12):1715-21. doi: 10.1586/14737140.6.12.1715. PMID: 17181485

Clinical prediction guides

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
Walton B
J Am Osteopath Assoc 1998 Jan;98(1):51-2. PMID: 9476444
Suita S, Nagasaki A
Semin Pediatr Surg 1996 May;5(2):107-15. PMID: 9138709
DiSantis DJ, Siegel MJ, Katz ME
Radiographics 1991 Jan;11(1):59-66. doi: 10.1148/radiographics.11.1.1996398. PMID: 1996398
Fink IJ, Filly RA
Radiology 1983 Nov;149(2):473-6. doi: 10.1148/radiology.149.2.6622691. PMID: 6622691

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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