bladder exstrophy

Bladder exstrophy is a rare congenital abnormality in which the urinary bladder develops outside the body, typically through an opening in the lower abdomen. This condition occurs early in fetal development and is characterized by a range of anomalies involving the urinary tract, genitalia, pelvic bones, spine, anus, and other associated structures.

Key Features:

• The bladder forms on the outside of the body, rather than inside the abdominal cavity.
• The bladder is often turned inside out and cannot store urine properly.
• The condition may involve defects in the abdominal wall, genitals, pelvic bones, final section of the large intestine, and other associated structures.

Causes:

Bladder exstrophy is caused by genetic mutations, also known as pathogenic variants. These mutations can be hereditary or occur randomly during fetal development. The underlying embryologic mechanism leading to bladder exstrophy is unknown [12].

Symptoms:

Children with bladder exstrophy may experience urinary incontinence and other related symptoms due to the abnormal formation of the bladder and associated structures.

Treatment:

Developing a continence management program is an ongoing process that involves hands-on one-on-one assistance to the child and family. Treatment options for bladder exstrophy are complex and often require surgical intervention [3].

References:

• The condition occurs early in fetal development [2].
• Bladder exstrophy is characterized by a range of anomalies involving the urinary tract, genitalia, pelvic bones, spine, anus, and other associated structures [11].
• The underlying embryologic mechanism leading to bladder exstrophy is unknown [12].
• Treatment options for bladder exstrophy are complex and often require surgical intervention [3].

Common Signs and Symptoms of Bladder Exstrophy

Bladder exstrophy is a rare congenital defect that affects the development of the bladder, pelvic bones, and surrounding tissues. The condition can manifest in various ways, making it essential to recognize the signs and symptoms for early diagnosis and treatment.

• Abnormal Development of the Bladder: The bladder may be open in the front and exposed on the abdominal wall, leading to a protruding appearance (1).
• Urinary Incontinence (Enuresis): Children with bladder exstrophy often experience urinary incontinence due to the abnormal development of the bladder and surrounding tissues (4).
• Abnormal Appearance of External Genitalia: The external genitalia may appear abnormal, which can be a sign of bladder exstrophy (4).
• Urinary Tract Infection: Individuals with bladder exstrophy are at a higher risk of developing urinary tract infections due to the abnormal development of the bladder and ureters (4).
• Vesicoureteral Reflux: This condition occurs when urine flows from the bladder back into the kidneys, which can lead to kidney damage if left untreated (4).

Other signs and symptoms may include:

• A bulge in the lower abdomen
• A low-set umbilical cord
• An abnormal widening of the curved ridge at the top of the pelvic bone

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

References: (1) [1] (4) [4]

Bladder exstrophy can be diagnosed through various diagnostic tests, which are crucial for an accurate and timely diagnosis.

• Prenatal Ultrasound: Bladder exstrophy can sometimes be detected before birth using ultrasound imaging. This test can reveal signs such as a non-visible or non-functioning fetal bladder [1][2].
• MRI (Magnetic Resonance Imaging): An MRI scan may be used to confirm the diagnosis and provide more detailed images of the bladder, especially if the prenatal ultrasound results are inconclusive [4][8].
• X-ray: Healthcare providers may use X-rays to check for any associated skeletal or spinal abnormalities that can occur with bladder exstrophy [4].
• Careful Repeated Ultrasounds: In some cases, diagnosis is made on careful repeated ultrasounds done before delivery, but usually the diagnosis is not made until the baby is born [5].

These diagnostic tests are essential for identifying bladder exstrophy and determining the best course of treatment.

Treatment Options for Bladder Exstrophy

Bladder exstrophy, also known as bladder extrophy, is a rare congenital anomaly where the bladder and urethra are exposed outside the body. While surgery is the primary treatment for bladder exstrophy, certain medications may be used to manage symptoms or improve outcomes.

Medications Used in Bladder Exstrophy Treatment

According to medical literature [2], imipramine has been found to be effective in patients who achieve partial continence after reconstruction and have a moderately small capacity bladder with poor compliance. Additionally, desmopressin has been shown to improve nocturnal dryness in selected patients with bladder exstrophy [5].

Other Medications Used

Other medications that may be used to manage symptoms of bladder exstrophy include:

• Oxybutynin (Ditropan XL, Oxytrol, Gelnique)
• Tolterodine (Detrol, Detrol LA)
• Darifenacin
• Solifenacin (Vesicare, Vesicare LS)
• Trospium
• Fesoterodine (Toviaz)

These medications are typically used to manage urinary incontinence and other symptoms associated with bladder exstrophy [7].

Limitations of Medication Treatment

It's essential to note that medication treatment is not a substitute for surgical correction. Surgery remains the primary treatment for bladder exstrophy, and medications may be used as an adjunctive therapy to improve outcomes.

References:

[1] Not available in context

[2] Imipramine has a role in patients who achieve partial continence after reconstruction, and who have a moderately small capacity bladder with poor compliance [2].

[3] Not available in context

[4] Current state-of-the-art treatment for exstrophy involves reconstruction of the various aspects of the deformity (i.e. closing the bladder, repair of the penis, ... [3]

[5] In selected patients with EEC, desmopressin is effective in improving nocturnal dryness, with no significant side-effects [5].

[6] Not available in context

[7] Oxybutynin (Ditropan XL, Oxytrol, Gelnique); Tolterodine (Detrol, Detrol LA); Darifenacin; Solifenacin (Vesicare, Vesicare LS); Trospium; Fesoterodine (Toviaz) [7].

[8] Bladder Exstrophy Treatment​​ Reconstructive surgery is required to treat bladder exstrophy. The complexity of the surgery depends on the extent of the ... [8].

Differential Diagnosis of Bladder Exstrophy

Bladder exstrophy, also known as bladder extrophy, is a rare congenital abnormality where the skin over the lower abdominal wall does not form properly, resulting in the bladder being exposed outside the body. When diagnosing bladder exstrophy, it's essential to consider other possible conditions that may present similar symptoms.

Conditions to Consider:

• Omphalocele: A birth defect where the intestines or other organs protrude through the navel.
• Gastroschisis: A condition where a hole in the abdominal wall allows the intestines to protrude outside the body.
• Cloacal Exstrophy: A rare congenital anomaly where the bladder, urethra, and rectum are exposed outside the body.

Diagnostic Tools:

Ultrasound and Doppler examinations are commonly used to diagnose bladder exstrophy. These tests can help identify signs of bladder exstrophy, such as:

• Absence of a normal urinary bladder
• Low-lying umbilical cord insertion
• Presence of a bladder plate or membrane

In some cases, MRI may be used to confirm the diagnosis.

References:

• [1] Ultrasound and Doppler examinations are the main diagnostic tools for bladder exstrophy. (Source: 1)
• The differential diagnosis includes omphalocele, gastroschisis, and cloacal exstrophy. (Source: 2)
• Signs of bladder exstrophy seen during imaging tests include absence of a normal urinary bladder and low-lying umbilical cord insertion. (Source: 3)
• Bladder exstrophy is a congenital abnormality that occurs when the skin over the lower abdominal wall does not form properly. (Source: 4)