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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
Breschi LC
Am Surg 1969 Oct;35(10):773-8. PMID: 5824348

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
Okada M, Emoto S, Kaneko M, Yamada D, Nozawa H
ANZ J Surg 2019 Nov;89(11):E536-E537. Epub 2018 Oct 2 doi: 10.1111/ans.14866. PMID: 30277300
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
Patel N, Santomauro M, Marietti S, Chiang G
Int Braz J Urol 2016 Mar-Apr;42(2):277-83. doi: 10.1590/S1677-5538.IBJU.2014.0444. PMID: 27256182Free PMC Article
Risher WH, Sardi A, Bolton J
South Med J 1990 Sep;83(9):1036-9. doi: 10.1097/00007611-199009000-00014. PMID: 2402647

Diagnosis

Potisek N, Weihe J
N Engl J Med 2016 Dec 29;375(26):2582. doi: 10.1056/NEJMicm1601380. PMID: 28029928
Kuriyama A
Intern Med 2014;53(15):1735. Epub 2014 Aug 1 doi: 10.2169/internalmedicine.53.2706. PMID: 25088903
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

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
Okada M, Emoto S, Kaneko M, Yamada D, Nozawa H
ANZ J Surg 2019 Nov;89(11):E536-E537. Epub 2018 Oct 2 doi: 10.1111/ans.14866. PMID: 30277300
Hirose Y, Shikino K, Ikusaka M
J Gen Intern Med 2017 Mar;32(3):360. Epub 2016 Jul 8 doi: 10.1007/s11606-016-3804-1. PMID: 27393484Free PMC Article
Xue K, Pridgeon S, Gillibrand R, Sanchez de Crespo J, Godbole H, Fowlis G
Can J Urol 2011 Jun;18(3):5757-62. PMID: 21703056

Prognosis

Miklovic T, Davis P
Mil Med 2023 Mar 20;188(3-4):e882-e884. doi: 10.1093/milmed/usab180. PMID: 33929544
Okada M, Emoto S, Kaneko M, Yamada D, Nozawa H
ANZ J Surg 2019 Nov;89(11):E536-E537. Epub 2018 Oct 2 doi: 10.1111/ans.14866. PMID: 30277300
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
Oderda M, Mondino P, Zitella A, Vigna D, Fiorito C, Pacchioni D, Tizzani A, Gontero P
Eur Urol 2009 May;55(5):1224-8. Epub 2008 Dec 31 doi: 10.1016/j.eururo.2008.12.023. PMID: 19131154
Upadhyay V, Kukkady A
Eur J Pediatr Surg 2003 Dec;13(6):372-6. doi: 10.1055/s-2003-44725. PMID: 14743323

Clinical prediction guides

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
Orbatu D, Alaygut D
Pediatr Int 2020 Oct;62(10):1158-1161. Epub 2020 Sep 25 doi: 10.1111/ped.14272. PMID: 32347613
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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