Prune Belly Syndrome: Difference between revisions

Introduction[edit|edit source]

Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare and complex multisystem disorder that is characterized by incomplete or absent musculature of theabdominal wall, bilateral intra-abdominal cryptorchidism, and urinary tract anomalies such as megalourethra, megacystis, hydroureteronephrosis, and renal dysplasia^[1]。

Epidemiology[edit|edit source]

Prune belly syndrome (PBS) predominantly affects male infants, with an incidence of 3.8 per 100,000 live male births in the United States^[2]。女性占不到5%的PBSs and typically present with an absent abdominal wall musculature and a dilated and abnormal urinary tract without any concurrent gonadal anomaly^[3]。A genomic mutation in the HNF1β (hepatocyte nuclear factor) transcription factor has been identified in 3% of PBS cases^[4]。HNF1β plays a crucial role in regulating gene expression necessary for mesodermal and endodermal development, and it is expressed in various tissues^[4]。Although PBS is typically considered a sporadic condition, its high concordance rate in twins (12.2 per 100,000 live births), reports of monozygotic male twins with PBS, familial case reports, and the higher incidence of PBS in males suggest a genetic contribution. However, the occurrence of both discordance and concordance for PBS in monozygotic twins suggests that genetic mutations alone cannot entirely explain the pathogenesis of the syndrome.^[5][6]

Clinical Presentation[edit|edit source]

Children with PBS may present with^[1]

• Wrinkled, redundant skin with bulging at the flanks due to deficiency of abdominal wall musculature
• Prematurity

• Hydroureteronephrosis - dilation and enlargement of both the ureters and the kidneys
• 肺发育不全,underdevelopment or incomplete growth of the lungs
• Cryptorchidism - One or both testicles fail to descend properly into the scrotum
• Vesicoureteral reflux – an abnormal flow of urine from the bladder back into the ureters and potentially reaching the kidneys
• Megaureter/megacystis - abnormally enlarged or dilated ureter/bladder
  

Classification of Prune Belly Syndrome[edit|edit source]

Woodard^[7]proposed a classification system for Prune Belly Syndrome (PBS) that divides children with PBS into three major categories based on their antenatal and anatomical features:

Category I: Children in this category exhibit pronounced oligohydramnios resulting from renal dysplasia and/or outlet obstruction, leading to severe pulmonary hypoplasia and skeletal abnormalities. These neonates often have a poor prognosis and may die within a few days of birth. They may exhibit Potter's facies, which are characterised by micrognathia, wide-set eyes, flattened palpebral fissures, prominent epicanthus, flattened nasal bridge, low-set ears lacking cartilage, and skeletal deformities. Urethral atresia cases are typically classified as Category I.

Category II: Children in this category have the classic features of PBS, and their prognosis is influenced by the degree of renal dysplasia present. There is a wide variation in the degree of renal dysplasia in this category, with severe forms requiring early dialysis. Pulmonary hypoplasia is not a prominent feature.

Category III: Children in this category exhibit mild triad features or incomplete forms of PBS, and their renal function is usually normal or mildly impaired. They do not exhibit pulmonary insufficiency.

Diagnosis[edit|edit source]

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Management / Interventions[edit|edit source]

The management of Prune Belly Syndrome (PBS) in children poses a significant challenge, necessitating timely and specialized care involving a multidisciplinary team, including a neonatologist, urologist, and nephrologist, with additional involvement of cardiologists and orthopaedic specialists when indicated. The comprehensive approach to care is essential to address the complex medical needs associated with PBS and ensure optimal outcomes for affected children.^[1]

Differential Diagnosis[edit|edit source]

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Resources[edit|edit source]

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References[edit|edit source]