He Prune Belly syndrome Encompasses a broad spectrum of symptoms ranging from mild urological abnormalities to severe urogenital and pulmonary problems, and can lead to death.
Translated into Spanish as abdomen syndrome in prune passes, it was first described in 1839 Frölich, so it was known as Frölich's syndrome, until Osler gave it this name. This disease is also known as Eagle-Barrett syndrome, Obrinsky's syndrome or triad syndrome.
The therapy to be used depends on the severity of the symptoms as well as the patient's personal variables, such as health status or age.
Characteristics of Prune Belly Syndrome
Prune Belly syndrome is a rare disease characterized by partial or complete absence of abdominal muscles, malformations in the urinary tract and / or absence of testicles because they have been unable to develop normally and descend to the scrotum (bilateral cryptorchidism) .
Lack of abdominal muscles can cause them to be unable to cough properly, which increases lung secretions, and can also lead to constipation due to their inability to perform the abdominal movements necessary to expel excrement (Valsalva maneuver).
Some of the urinary tract malformations that children with Prune Belly syndrome may have are the dilation and / or obstruction of the tubes that carry the urine to the bladder (ureters), urine accumulation in the ureters (hydrourea), and In the kidneys (hydronephrosis) and reflux of urine from the bladder to the ureters (vesicoureteral reflux).
In more severe cases, complications such as deficits in lung development (pulmonary hypoplasia) or chronic renal failure may occur. In addition, patients are more likely to suffer from tetralogy of Fallot (congenital heart disease) and ventricular-septal defects.
Prune Belly syndrome affects 1 in 30,000-40,000 newborns. It occurs more in men than in women, only 3-4% of cases occur in girls. It is more frequent in people of African American ethnicity than in Caucasians (Druschel, 1994).
Although the cause is not known it is known that being pregnant with twins is a risk factor, since 4% of cases occur in children than twins. This is due to the fact that the survival rate of fetuses with Prune Belly syndrome when they are twins is quite higher than when they are children of single birth (in particular it is 4 times greater).
The prognosis is quite unfavorable, the mortality rate of children with Prune Belly syndrome is 20% (Franco, 2014).
Causes
There is currently no consensus on the exact etiology of Prune Belly syndrome, but there are two predominant non-contradictory theories.
The first theory states that obstruction of the urinary tract, present since pregnancy, is due to urethral atresia (a malformation in which the urethra closes at the end) and a stenosis of the posterior valves of the urethra (narrowing of the valves) (Loder, Guiboux, Bloom, & Hensinger, 1992).
The second theory suggests that abdominal muscle deficiency may be due to the migration of embryonic cells, called mesoblasts, between the sixth and seventh week of pregnancy (Terada, Suzuki, Uchide, Ueno, & Akasofu, 1994; Pagon , Smith, & Shepard, 1979) or to a distension of the abdomen caused by the presence of megalocystic ovaries (Shaw, Smith, & Pringle, 1990).
This theory is also supported by the fact that the disease is more frequent in Monozygotic twins . One possible explanation for this is that the first cell division in which the two embryos begin to form has not occurred equitably, so that the affected embryo does not have enough mesoblasts to develop a healthy abdominal wall and urinary tract ( Vermeij-Keers, Hartwig, & van der Werrf, 1996).
In addition, the genetic component is also very important because the syndrome of prune belly is associated with a trisonomy on chromosomes 18 and 21.
symptom
As previously mentioned, prune belly syndrome is characterized by a total or partial absence of the abdominal wall, this symptom is what gives the disease its name, as the belly takes on the appearance of a wrinkled plum. In some cases there is so little muscle that the intestines can be seen through the skin.
A rather common sign in boys is that the testicles do not go down into the scrotal sac, but rather remain internally, next to the urethra.
Bladder enlargement is present in almost all cases, this defect is related to other affections such as obstruction of the bladder neck, which eventually causes distension of the bladder and retention of urine.
There may also be problems in the connection between the kidney and the bladder by an obstruction of the ureter duct. This obstruction can occur at any height of the ureter or in the openings of the kidney and bladder. Due to these obstructions, the ureters usually widen to a large extent, this widening can occur on one or both sides.
Another frequent symptom is distention of the kidneys ( Hydronephrosis ) That can cause trouble urinating. In more severe cases, one of the kidneys may not mature and the other may have hydronephrosis. There may also be kidney cysts.
In some cases, approximately 20%, there are also abnormalities in the locomotor system, especially the athlete's foot, and cardiovascular problems are not uncommon either, occurring in approximately 10% of cases.
All these deficits and malformations quality of life Of patients and increase the likelihood of urine infections with pus and blood in urine.
Symptoms may be summarized as follows:
- Malformed abdomen with multiple skin folds caused by lack of muscle mass.
- Flared bladder.
- Problems in the urinary tract.
- Internal testes in males.
Treatment
Treatment depends on the severity of the symptoms, but in most cases includes a pharmacological treatment, especially antibiotics if there are infections, and a surgical treatment to restore the malformations.
Surgical treatment may include:
- Surgery to lower the testicles. In milder cases a laparoscopy is used, when a more complete surgery is necessary, it is usually done together with the reconstruction of the urinary tract.
- Reconstruction of the abdominal wall
- Percutaneous nephrostomy. A small tube (catheter) is placed in the kidney to drain the urine, this probe goes out through the skin.
- Standard Pyeloplasty. This technique is used to treat stenosis (narrowing in the ureter).
- Surgery to treat infravesical obstruction or obstruction in the prostatic urethra.
References
- Druschel, C. (1994). A descriptive study of prune belly in New York state, 1983 to 1989. Arch Pediatr Adolesc Med, 49 , 70-76.
- Franco, I. (April 30, 2014). Prune Belly Syndrome . Obtained from Medscape.
- Loder, R., Guiboux, J., Bloom, D., & Hensinger, R. (1992). Muscoloskeletal aspects of prune belly syndrome and pathogenesis. Am J Dis Child, 146 , 1224-1229.
- Pagon, R., Smith, D., & Shepard, T. (1979). Urethral obstruction malformation complex: a cause of abdominal muscle deficiency and the"prune belly". J Pediatr, 94 , 900-906.
- Shaw, R., Smith, J., & Pringle, K. (1990). The prune belly syndrome in a female, case report and review of literature. Pediatr Surg Int, 5 , 202-207.
- Terada, S., Suzuki, N., Uchide, K., Ueno, H., & Akasofu, K. (1994). Etiology of prune belly syndrome: evidence of megalocystyc origin in an early fetus. Obstet Gynecol, 83 , 865-868.
- Vermeij-Keers, C., Hartwig, N., & van der Werrf, J. (1996). Embryonic development of the ventral body wall and its congenital malformations. Semin Pediatr Surg, 88 , 766-796.