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Prune Belly syndrome
What are the symptoms?
Prune Belly syndrome affects indviduals to varying degrees. The prognosis may be serious and often life-threatening including in utero death, stillbirth or death within the first few weeks of life. Alternatively, the prognosis may involve a combination of congenital anomalies in infancy. For others, the outcome may be a near-normal life expectancy, with varying degrees of urinary tract pathology.
As the name implies, Prune Belly syndrome is characterised by an abdomen with a wrinkly or 'prune-like' appearance with multiple folds of skin. The cause of this is a blockage in a part of the unborn's urinary tract, resulting in other parts of the tract developing abnormally. The obstruction may occur in the urethra (the tube that drains urine from the bladder to the outside of the body for elimination). The effect of this is that the urine 'reverse flows', causing an expanded bladder. Fluid subsequently develops in the abdomen which stretches larger and larger. The fluid is reabsorbed before birth and when the infant is born, it has a sagging or wrinkled abdomen (thus the 'prune belly' name). Infants may have a range of severity from a complete absence of musculature to an abdomen of normal appearance. Infants may have difficulties in sitting upright.
The range of urinary tract anomalies varies widely in Prune Belly syndrome ranging from an inability to completely empty the bladder to a more serious impairment associated with the bladder, ureter and kidney. The urinary tract organs may be easy to feel through the abdominal area. A child may experience frequent urinary tract infections if an obstruction is present. Characteristic features of urinary tract anomalies in Prune Belly syndrome include dilation (abnormal widening) of the tubes that bring urine to the ureters (bladder), hydroureter (accumulation of urine in the ureters) and hydronephrosis (in the kidneys) and/or vesicoureteral reflux (backflow of urine from the bladder into the ureters). Ultrasound and x-rays may identify the type of urinary tract abnormalities present after birth.
In some affected males, the testes are present and are commonly small and intra-abdominal in location. In others, the testes in the scrotum are absent. Sperm are thought to be absent, and rarely neoplasia (malignant change) has been reported in the testes.
Complications associated with Prune Belly syndrome may include pulmonary hypoplasia (underdevelopment of the lungs), heart anomalies, gastrointestinal anomalies and musculoskeletal abnormalities. Girls may have defects in their external genitalia.
Background
| Inheritance patterns and prenatal diagnosis 
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