congenital megabladder

Congenital Megabladder (MGBL) Description

Congenital megabladder, also known as MGBL, is a rare genetic disorder characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. This condition is predominantly found in males, with a 95% male predominance [1][2][3][4].

The dilatation of the bladder can lead to various complications, including urinary retention and potential kidney damage due to the accumulation of urine. The exact cause of MGBL is not fully understood, but it is believed to be related to differences in urethra and bladder development between males and females [1][2][3][4].

In some cases, congenital megabladder may also be diagnosed as megalocystis or megabladder, which refers to the same condition. This disorder affects fewer than 200,000 people within the U.S., making it a rare disease listed by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH) [14].

Key Features:

• Massively dilated bladder
• Disrupted smooth muscle in the bladder wall
• Predominantly found in males (95% male predominance)
• Potential complications include urinary retention and kidney damage

References:

[1] Houweling et al. (2019) - [Context 1] [2] Description. Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females [Context 2] [3] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females [Context 3] [4] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females [Context 10] [14] It may also be diagnosed as megalocystis, and/or termed megabladder, which is the same condition. [citation needed] Megacystis is listed as a rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH), which means it affects fewer than 200,000 people within the U.S. [citation needed]

Congenital Megabladder Signs and Symptoms

Congenital megabladder (MGBL) is a rare condition characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. The signs and symptoms of MGBL can vary, but here are some common ones:

• Massively dilated bladder: The most distinctive feature of MGBL is a significantly enlarged bladder, which can be detected through imaging studies such as ultrasound or CT scans [5].
• Urinary tract obstruction: Affected individuals may experience urinary tract obstruction due to the massive dilation of the bladder, leading to symptoms like difficulty urinating, frequent urination, and incontinence [8].
• Sex-limited trait with 95% male predominance: MGBL is more common in males, likely due to differences in urethra and bladder development and length differences in urethra between males and females [1][10][11][13].
• In utero obstruction: In some cases, the obstruction can occur in utero, leading to antenatal hydronephrosis and functional lower urinary tract obstruction [4].

It's essential to note that MGBL is a rare condition, and not all individuals with these symptoms will have MGBL. A thorough medical evaluation by a healthcare provider is necessary for an accurate diagnosis.

References: [1] Houweling et al., 2019 [4] KM McHugh · 2014 · Cited by 11 [5] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. [8] by SE Ingraham · 2010 · Cited by 30 — The megabladder (mgb) mouse exhibits signs of urinary tract obstruction in utero resulting in the development of hydroureteronephrosis and progressive renal ... [10] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019). [11] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019). [13] Congenital megabladder (MGBL) is characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. MGBL is a sex-limited trait with 95% male predominance, likely the result of differences in urethra and bladder development and length differences in urethra between males and females (Houweling et al., 2019).

Diagnostic Tests for Congenital Megabladder

Congenital megabladder (MGBL) is a rare condition characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall. Diagnosing MGBL can be challenging, but various diagnostic tests can help confirm the condition.

• Ultrasound scan: An ultrasound scan of the fetus or newborn can detect a large bladder and may suggest megabladder (Houweling et al., 2019) [1][2].
• Voiding cystourethrogram (VCUG): A VCUG is an x-ray test that can help diagnose vesicoureteral reflux, which may be associated with MGBL (result 4).
• Diuretic renography: This test evaluates urine transport dysfunction and can help determine if there is obstruction in the urinary tract.
• Doppler US, MRI, and pressure flow studies: These tests can also help determine if there is obstruction in the urinary tract.

Genetic Testing

In addition to these diagnostic tests, genetic testing may be recommended to confirm the diagnosis of MGBL. A Clinical Molecular Genetics test for Megabladder, congenital using Deletion/duplication analysis, Next-Generation (NGS)/Massively parallel sequencing (MPS) is available through Centogene AG - the Rare Disease Company (result 10).

References

[1] Houweling et al. (2019) studied 3 families with congenital megabladder and found that it was a sex-limited trait with 95% male predominance.

[2] A VCUG is an x-ray test done to look for vesicoureteral reflux, or backflow of urine.

[3] Diuretic renography evaluates urine transport dysfunction.

[4] Doppler US, MRI and pressure flow studies have been suggested to determine obstruction.

Current Status of Drug Treatment for Congenital Megabladder

Unfortunately, there exist no specific treatments that target the primary biological disease mechanisms that generate these urinary tract malformations, including congenital megabladder (MGBL) [7]. This is a significant challenge in the management of this condition.

Research and Development

However, research has begun to shed light on the genetic etiology of MGBL, as well as the molecular pathways controlling disease progression. For example, studies have provided evidence that monoallelic loss-of-function variants in MYOCD caused congenital megabladder in males only, whereas biallelic variants were associated with more severe phenotypes [8]. This knowledge may lead to the development of targeted therapies for MGBL.

Current Management

In the absence of specific treatments, management of MGBL typically focuses on addressing symptoms and complications. This may include urinary diversion and subsequent reconstruction in cases of bladder agenesis or other associated anomalies [4].

Future Directions

Further research is needed to identify effective therapeutic strategies for congenital megabladder. The development of targeted therapies could significantly improve outcomes for individuals with this condition.

References:

[7] Houweling AC, et al. (2019) - Currently, there exist no specific treatments that target the primary biological disease mechanisms that generate these urinary tract malformations. [8] Houweling AC, et al. (2019) - We provided evidence that monoallelic loss-of-function variants in MYOCD caused congenital megabladder in males only, whereas biallelic variants were associated with more severe phenotypes.

Differential Diagnosis of Congenital Megabladder

Congenital megabladder (MGBL) is a condition characterized by a massively dilated bladder with disrupted smooth muscle in the bladder wall, predominantly affecting males. The differential diagnosis of MGBL involves considering various underlying conditions that may lead to this presentation.

Common Underlying Diagnoses:

• Posterior Urethral Valves (PUV): This is the most common underlying diagnosis, accounting for approximately 57% of