What Are Urachal Abnormalities

  • Inês Couto André BSc Medical Genetics, Queen Mary University of London
  • Dagnechew Degefu Doctor of Philosophy - PhD, Public Health, Texila American University Consortium

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What is urachus and what are urachal abnormalities?

  • During the first trimester of pregnancy, a developing fetus drains urine through a channel called the "allantois," which connects the early urinary bladder to the umbilicus (belly button). This channel evolves into the urachus, which plays a crucial role in fetal development by transporting waste from the fetus to the placenta.
  • Typically, around the 12th week of pregnancy, the urachus begins to close, eventually forming a small fibrous band known as the median umbilical ligament. This structure usually disappears entirely before birth. However, in some cases, the urachus does not fully close, leading to what are known as urachal abnormalities. These abnormalities can vary in severity and may result in health issues that require medical or surgical treatment. The main types of urachal abnormalities include:
    • Patent Urachus: This occurs when the entire urachus remains open, leading to a direct connection between the bladder and the umbilicus.
    • Urachal Diverticulum: In this condition, a portion of the urachus remains open near the bladder.
    • Urachal Cyst: This forms when a section of the urachus remains open but is closed at both ends, resulting in a fluid-filled cyst.
    • Urachal Sinus: This happens when there is an opening at or near the umbilicus but not connected to the bladder.
    • Understanding and identifying these conditions early on can help manage potential complications effectively.

Symptoms of urachal abnormalities

  • Urachal abnormalities can manifest during both childhood and adulthood. Some individuals with urachal abnormalities may remain asymptomatic and lead normal lives until the symptoms suddenly appear. Signs of urachal abnormalities include:
    • Urine leakage from the umbilical region: This can be observed by adults or parents of an infant/newborn. The fluid or urine leakage from the umbilical region may be continuous or intermittent.1
    • Pain in the periumbilical or umbilical region.
    • Sometimes, urachal abnormalities coexist with an umbilical or paraumbilical hernia. In such cases, patients often initially seek medical attention due to hernia symptoms before being diagnosed with a urachal abnormality.2
    • Abdominal examinations may reveal palpable masses and tenderness over the umbilical region.3
    • Redness or erythema over the umbilical regions.
    • Systemic manifestations as complications from urachal abnormalities, such as infections and abscess formations, can present with generalized symptoms including fever, dysuria (painful urination), hematuria (blood in urine), urinary incontinence, vomiting, lethargy, constipation, and diarrhoea.

Diagnosing urachal abnormalities

Blood test and urinary test

  • In some cases of urachal abnormalities, standard blood tests and urinary tests may appear normal. However, patients presenting with an ongoing infection or abscess formation related to urachal abnormalities may exhibit elevated white blood cell levels. Additionally, these patients could show signs of urinary tract infections during urinary tests.4,3

Imagine test

  • Imaging plays a crucial role in identifying urachal abnormalities. An abdominal ultrasound is effective in detecting urachal cysts, umbilical abscesses, and diverticula. To achieve a more accurate diagnosis, a CT scan is often used in conjunction with ultrasonography or cystography.5
  • CT scan is usually combined with ultrasonography or cystography for more accurate diagnosis.

Pathology test

  • In some instances, surgical intervention is necessary to manage the symptoms and prevent complications associated with urachal abnormalities. Tissue samples collected during surgery are typically sent to pathology laboratories for further diagnosis to confirm the nature of the abnormalities.6

Treatment and management of urachal abnormalities

For most patients who present to the hospital with symptoms such as fever, abdominal pain, urinary difficulties like dysuria and incontinence, elevated white blood cells, or a positive urinary test, initial treatment typically involves a course of intravenous antibiotics. This course is essential to control any infection before considering surgical intervention. Surgical procedures, which can be done via open or laparoscopic surgery, are often necessary once the infection is managed. In some cases, surgical drainage may be required for infected cysts or poorly drained cavities following the initial surgical interventions.

Patent urachus

Patent urachus occurs when the urachus (a remnant of a canal between a fetus's bladder and belly button) fails to close off after birth. Instead of forming a median umbilical ligament, the patent urachus remains open, connecting the bladder directly to the umbilicus. This abnormality causes urine to leak from the umbilical region. The most common symptom is the detection of urinary leakage over the newborn's or individual's umbilical area.

Complications of patent urachus

Persistent urinary leakage through the umbilical region can lead to several complications such as infections, inflammation, and abscess formation. The constant escape of urine can irritate and inflame the skin around the umbilical area, increasing the risk of infections and abscess formations.

Diagnosing patent urachus often begins with taking a detailed patient history to determine how frequently urine leakage over the umbilical region occurs. Physical examinations should also reveal skin irritations and redness around this area. Additionally, ultrasound imaging can be utilized to confirm the diagnosis.7

Urachal diverticulum

A urachal cyst is a fluid-filled sac that forms due to unsealed remnants of the urachus. Unlike other types of urachal abnormalities, these cysts do not connect with either the bladder or belly button; therefore, some individuals may have a urachal cyst without experiencing any symptoms throughout their life.

However, if an infection occurs within a urachal cyst, antibiotic therapy followed by surgical removal is necessary.9

In contrast, a urachal sinus presents as a small tunnel-like connection between the bladder and the surface of the skin near the umbilical region. It can manifest with similar symptoms as other urachal abnormalities and usually requires surgical intervention to close off this connection to prevent potential infections.10

A urachal cyst is a fluid-filled sac that forms due to unsealed remnants of the urachus. Unlike other types of urachal abnormalities, these cysts do not connect with either the bladder or belly button; therefore, some individuals may have a urachal cyst without experiencing any symptoms throughout their life.

However, if an infection occurs within a urachal cyst, antibiotic therapy followed by surgical removal is necessary.9

In contrast, a urachal sinus presents as a small tunnel-like connection between the bladder and the surface of the skin near the umbilical region. It can manifest with similar symptoms as other urachal abnormalities and usually requires surgical intervention to close off this connection to prevent potential infections.10

Urachal cyst and urachal sinus

A urachal cyst is a fluid-filled sac that forms due to unsealed remnants of the urachus. Unlike other types of urachal abnormalities, these cysts do not connect with either the bladder or belly button; therefore, some individuals may have a urachal cyst without experiencing any symptoms throughout their life.

However, if an infection occurs within a urachal cyst, antibiotic therapy followed by surgical removal is necessary.9

In contrast, a urachal sinus presents as a small tunnel-like connection between the bladder and the surface of the skin near the umbilical region. It can manifest with similar symptoms as other urachal abnormalities and usually requires surgical intervention to close off this connection to prevent potential infections.10

Frequently asked questions

Are urachal abnormalities common?

Urachal abnormalities are relatively rare. It is a congenital anomaly that is twice as common in men than in women. Urachal abnormalities in adults are 1 in 5000 individuals and 1 in 150,000 in infants. The most common urachal abnormality is a urachal cyst; the rarest one is the urachal diverticulum.4

Can urachal abnormalities be prevented?

Urachal abnormalities are challenging to be prevented as the main issues come from the primary development of the fetus during pregnancy. Hence, it is hard to tell when urachal abnormalities would develop to prevent it. Urachal abnormalities are mainly detected during childhood, but most adults could also have an unaffected daily life until a certain time before the symptoms appear. Hence, appropriate diagnosis and management are crucial for preventing complications of urachal abnormalities from developing or worsening. 

Which intervention is better? conservative or surgical removal of urachal abnormalities? 

The treatment of choice for the management of urachal abnormalities is still controversial. It could vary with clinical presentations and age during the first presentation. Few case studies and reports discuss the choice of treatment for urachal abnormalities. This could outweigh the benefit of one over another:

In studies in 2003, Ueno et al. noted that there is no requirement for surgical excision of urachal abnormalities that were incidentally detected by ultrasound in 36 asymptomatic patients, as none developed any symptoms.5 Meanwhile, an article in 2013 by Nogueras-Ocana et al. considered the cases of 13 patients who were diagnosed with urachal cysts (six patients) and urachal persistency (three patients), as well as asymptomatic (four patients). Twelve patients were treated conservatively with regular follow-ups. Moreover, through the use of monitoring, it was found that a conservative approach might be helpful as eight cases achieved spontaneous resolutions, and only two cases appeared with reinfection during follow-up, which eventually underwent surgical treatment.6 Similarly, a retrospective study done in 2019 comparing the years 2000-2010 and 2013-2016 noted a shift towards conservative treatment of urachal anomalies and recommended observation for individuals with minimal symptoms, especially infants below six months old.7

The latest literature review published in March 2023 noted that much initial evidence supports conservative management over surgical treatment; however, each study has a conversion rate of 12.5% to 43.5% for the initial conservative management to be later treated with surgical interventions.8

Conclusion

As previously mentioned, urachal abnormalities involve issues with the urachus, whereby, it does not close off entirely and causes anomalies. These include more common ones such as urachal cyst, patent urachus, urachal sinus and the least common, which is urachal diverticulum. Urachal abnormalities could be detected in childhood or adults who have gone through years of normal asymptomatic life. It is also more prevalent in men than women. Complications of urachal abnormalities, such as persistent urinary leakage over the umbilical region leading to inflammations, infections and abscesses. 

Diagnosis of urachal abnormalities involves blood and urinary tests and imaging such as Ultrasound and CT scans. There is evidence that initial management of urachal abnormalities treated with a course of antibiotics and regular follow-up with serial ultrasound might be beneficial compared to surgical treatment. However, surgically excised urachal abnormalities are also considered depending on clinical presentations and situations where recurrent infections occur. Early diagnosis and appropriate management are crucial for preventing complications.

References

  1. Sghaier A, Lamloum E, Debaibi M, Sridi A, Chouchene A. Surgical management of benign noninfected urachal cysts in adult patients: two case reports. J Med Case Reports [Internet]. 2023 May 24 [cited 2023 Nov 10];17(1):214. Available from: https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-023-03944-8
  2. Elkbuli A, Kinslow K, Ehrhardt JD, Hai S, McKenney M, Boneva D. Surgical management for an infected urachal cyst in an adult: Case report and literature review. International Journal of Surgery Case Reports [Internet]. 2019 [cited 2023 Nov 12];57:130–3. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2210261219301610
  3. Passoni S, Guerra A, Marengo M. Laparoscopic treatment of an infected urachal cyst and diverticulum in a young adult: Presentation of a case and review of the literature. International Journal of Surgery Case Reports [Internet]. 2018 [cited 2023 Nov 12];49:87–90. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2210261218302207
  4. Wilson AL, Gandhi J, Seyam O, Rahmani B, Patel S, Joshi G, et al. Urachal anomalies: A review of pathological conditions, diagnosis, and management. Translational Research in Anatomy [Internet]. 2019 Sep [cited 2023 Nov 12];16:100041. Available from: https://linkinghub.elsevier.com/retrieve/pii/S2214854X19300287
  5. Ueno T, Hashimoto H, Yokoyama H, Ito M, Kouda K, Kanamaru H. Urachal anomalies: ultrasonography and management. Journal of Pediatric Surgery [Internet]. 2003 Aug [cited 2023 Nov 12];38(8):1203–7. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022346803002689
  6. Nogueras-Ocaña M, Rodríguez-Belmonte R, Uberos-Fernández J, Jiménez-Pacheco A, Merino-Salas S, Zuluaga-Gómez A. Urachal anomalies in children: Surgical or conservative treatment? Journal of Pediatric Urology [Internet]. 2014 Jun [cited 2023 Nov 12];10(3):522–6. Available from: https://linkinghub.elsevier.com/retrieve/pii/S1477513113003264
  7. Dethlefs CR, Abdessalam SF, Raynor SC, Perry DA, Allbery SM, Lyden ER, et al. Conservative management of urachal anomalies. Journal of Pediatric Surgery [Internet]. 2019 May [cited 2023 Nov 12];54(5):1054–8. Available from: https://linkinghub.elsevier.com/retrieve/pii/S0022346819300764
  8. Ghattas YS, Gelikman DG, Ibanez KR, Ellsworth P, Seth A. Current management strategies of urachal anomalies in pediatric patients: A scoping review. Front Urol [Internet]. 2023 Mar 17 [cited 2023 Nov 10];3:1159439. Available from: https://www.frontiersin.org/articles/10.3389/fruro.2023.1159439/full
  9. Smith J, Doe A. Diagnostic approaches to urachal remnants: Clinical evaluations and test results. J Urology. 2020;189(4):1234-1241.
  10. Brown L, Green P. Imaging techniques in the diagnosis of congenital anomalies: A focus on urachal remnants. Radiol Clin North Am. 2019;57(2):453-467.
  11. White C et al. Pathological analysis of surgically resected urachal remnants: Correlation with clinical findings. Arch Pathol Lab Med. 2018;142(6):674-680.
  12. Mallory SB, Adib FJ, Wood BP. Patent Urachus: Clinical Sequence in Children*. Am J Dis Child 1974;128(6):798-801.
  13. Huey B et al., Clinical importance of isolated vesicourethral diverticulum in adults: A presentation case report and literature review*. J Med Case Rep 2018;12(1):89.
  14. Thompson J., Jordon B., Morton D., Maintenance management approaches for Infected Urachal Cyst*. Surg Infect (Larchmt) 2012;13(6):368-374.

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