Prune belly syndrome

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Prune belly syndrome
Other namesAbdominal muscle deficiency syndrome, congenital absence of the abdominal muscles, Eagle-Barrett syndrome, [1] Obrinsky syndrome, [2] Fröhlich syndrome, [3] triad syndrome
Prune belly syndrome.JPEG
Prune belly syndrome in an Egyptian child with Down syndrome.
Specialty Medical genetics   OOjs UI icon edit-ltr-progressive.svg

Prune belly syndrome is a rare, genetic birth defect affecting about 1 in 40,000 births. [4] About 97% of those affected are male. Prune belly syndrome is a congenital disorder of the urinary system, characterized by a triad of symptoms. The syndrome is named for the mass of wrinkled skin that is often (but not always) present on the abdomen of those with the disorder.

Contents

Signs and symptoms

Prune-belly triad consists of signs such as: [5]

Other signs include:

Complications

Prune belly syndrome can result in distention and enlargement of internal organs such as the bladder and intestines. Surgery is often required but will not return the organs to a normal size. Bladder reductions have shown that the bladder will again stretch to its previous size due to lack of muscle. Complications may also arise from enlarged/malformed kidneys, which may result in kidney failure and the child's going on dialysis or requiring a kidney transplant. Many individuals with prune belly syndrome have good physical and mental health, despite all the concerns. [8] With proper treatment, however, a longer, healthier life is possible.[ citation needed ]

Diagnosis

Prune belly syndrome can be diagnosed via ultrasound while a child is still in-utero. [9] Urinary tract dilation, bladder outlet obstruction, distended bladder wall and an abnormally large abdominal cavity with deficient abdominal wall musculature are key indicators, as the abdomen swells with the pressure of accumulated urine. [10] [11] [12]

In young children, frequent urinary tract infections often herald prune belly syndrome, as they are normally uncommon. If a problem is suspected, doctors can perform blood tests to check renal function. Another study that may suggest the syndrome is a voiding cystourethrogram. [13]

PBS is far more common in males. Autosomal recessive inheritance has been suggested in some cases. A homozygous mutation in the muscarinic cholinergic receptor-3 gene (CHRM3) on chromosome 1q43 was reported in one family. [14]

Treatment

The type of treatment, like that of most disorders, depends on the severity of the symptoms. One option is to perform a vesicostomy, which allows the bladder to drain through a small hole in the abdomen, thus helping to prevent urinary tract infections. Similarly, consistent self-catheterization, often several times per day, can be an effective approach to preventing infections. A more drastic procedure is a surgical "remodeling" of the abdominal wall and urinary tract. Boys often need to undergo an orchiopexy to move the testes to their proper place in the scrotum. [15] [16]

Related Research Articles

<span class="mw-page-title-main">Urology</span> Medical specialty

Urology, also known as genitourinary surgery, is the branch of medicine that focuses on surgical and medical diseases of the urinary system and the reproductive organs. Organs under the domain of urology include the kidneys, adrenal glands, ureters, urinary bladder, urethra, and the male reproductive organs.

<span class="mw-page-title-main">Bladder</span> Organ in vertebrates that collects and stores urine from the kidneys before disposal

The bladder is a hollow organ in humans and other vertebrates that stores urine from the kidneys before disposal by urination. In placental mammals, urine enters the bladder via the ureters and exits via the urethra. In humans, the bladder is a distensible organ that sits on the pelvic floor. The typical adult human bladder will hold between 300 and 500 ml before the urge to empty occurs, but can hold considerably more.

<span class="mw-page-title-main">Ureter</span> Tubes used in the urinary system in most animals

The ureters are tubes composed of smooth muscle that transport urine from the kidneys to the urinary bladder. In an adult human, the ureters typically measure 20 to 30 centimeters in length and about 3 to 4 millimeters in diameter. They are lined with urothelial cells, a form of transitional epithelium, and feature an extra layer of smooth muscle in the lower third to aid in peristalsis. The ureters can be affected by a number of diseases, including urinary tract infections and kidney stone. Stenosis is when a ureter is narrowed, due to for example chronic inflammation. Congenital abnormalities that affect the ureters can include the development of two ureters on the same side or abnormally placed ureters. Additionally, reflux of urine from the bladder back up the ureters is a condition commonly seen in children.

<span class="mw-page-title-main">Hematuria</span> Presence of blood in urine

Hematuria or haematuria is defined as the presence of blood or red blood cells in the urine. "Gross hematuria" occurs when urine appears red, brown, or tea-colored due to the presence of blood. Hematuria may also be subtle and only detectable with a microscope or laboratory test. Blood that enters and mixes with the urine can come from any location within the urinary system, including the kidney, ureter, urinary bladder, urethra, and in men, the prostate. Common causes of hematuria include urinary tract infection (UTI), kidney stones, viral illness, trauma, bladder cancer, and exercise. These causes are grouped into glomerular and non-glomerular causes, depending on the involvement of the glomerulus of the kidney. But not all red urine is hematuria. Other substances such as certain medications and foods can cause urine to appear red. Menstruation in women may also cause the appearance of hematuria and may result in a positive urine dipstick test for hematuria. A urine dipstick test may also give an incorrect positive result for hematuria if there are other substances in the urine such as myoglobin, a protein excreted into urine during rhabdomyolysis. A positive urine dipstick test should be confirmed with microscopy, where hematuria is defined by three or more red blood cells per high power field. When hematuria is detected, a thorough history and physical examination with appropriate further evaluation can help determine the underlying cause.

<span class="mw-page-title-main">Ureterocele</span> Medical condition

A ureterocele is a congenital abnormality found in the ureter. In this condition the distal ureter balloons at its opening into the bladder, forming a sac-like pouch. It is most often associated with a duplicated collection system, where two ureters drain their respective kidney instead of one. Simple ureterocele, where the condition involves only a single ureter, represents only twenty percent of cases.

<span class="mw-page-title-main">Urinary retention</span> Inability to completely empty the bladder

Urinary retention is an inability to completely empty the bladder. Onset can be sudden or gradual. When of sudden onset, symptoms include an inability to urinate and lower abdominal pain. When of gradual onset, symptoms may include loss of bladder control, mild lower abdominal pain, and a weak urine stream. Those with long-term problems are at risk of urinary tract infections.

<span class="mw-page-title-main">Pediatric surgery</span> Medical subspecialty of surgery performed by pediatrics

Pediatric surgery is a subspecialty of surgery involving the surgery of fetuses, infants, children, adolescents, and young adults.

<span class="mw-page-title-main">Hydronephrosis</span> Dilation of the renal pelvis due to obstruction of urine flow

Hydronephrosis describes hydrostatic dilation of the renal pelvis and calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dilation of the entire upper urinary tract.

<span class="mw-page-title-main">Mitrofanoff procedure</span>

The Mitrofanoff procedure, also known as the Mitrofanoff appendicovesicostomy, is a surgical procedure in which the appendix is used to create a conduit, or channel, between the skin surface and the urinary bladder. The small opening on the skin surface, or the stoma, is typically located either in the navel or nearby the navel on the right lower side of the abdomen. Originally developed by Professor Paul Mitrofanoff in 1980, the procedure represents an alternative to urethral catheterization and is sometimes used by people with urethral damage or by those with severe autonomic dysreflexia. An intermittent catheter, or a catheter that is inserted and then removed after use, is typically passed through the channel every 3–4 hours and the urine is drained into a toilet or a bottle. As the bladder fills, rising pressure compresses the channel against the bladder wall, creating a one-way valve that prevents leakage of urine between catheterizations.

An Indiana pouch is a surgically-created urinary diversion used to create a way for the body to store and eliminate urine for patients who have had their urinary bladders removed as a result of bladder cancer, pelvic exenteration, bladder exstrophy or who are not continent due to a congenital, neurogenic bladder. This particular urinary diversion results in a continent reservoir that the patient must catheterize to empty urine. This concept and technique was developed by Drs. Mike Mitchell, Randall Rowland, and Richard Bihrle at Indiana University.

<span class="mw-page-title-main">Vesicoureteral reflux</span> Backwards flow of urine from the bladder into the ureters and kidneys

Vesicoureteral reflux (VUR), also known as vesicoureteric reflux, is a condition in which urine flows retrograde, or backward, from the bladder into one or both ureters and then to the renal calyx or kidneys. Urine normally travels in one direction from the kidneys to the bladder via the ureters, with a one-way valve at the vesicoureteral (ureteral-bladder) junction preventing backflow. The valve is formed by oblique tunneling of the distal ureter through the wall of the bladder, creating a short length of ureter (1–2 cm) that can be compressed as the bladder fills. Reflux occurs if the ureter enters the bladder without sufficient tunneling, i.e., too "end-on".

In urology, voiding cystourethrography (VCUG) is a frequently performed technique for visualizing a person's urethra and urinary bladder while the person urinates (voids). It is used in the diagnosis of vesicoureteral reflux, among other disorders. The technique consists of catheterizing the person in order to fill the bladder with a radiocontrast agent, typically diatrizoic acid. Under fluoroscopy the radiologist watches the contrast enter the bladder and looks at the anatomy of the patient. If the contrast moves into the ureters and back into the kidneys, the radiologist makes the diagnosis of vesicoureteral reflux, and gives the degree of severity a score. The exam ends when the person voids while the radiologist is watching under fluoroscopy. Consumption of fluid promotes excretion of contrast media after the procedure. It is important to watch the contrast during voiding, because this is when the bladder has the most pressure, and it is most likely this is when reflux will occur. Despite this detailed description of the procedure, at least as of 2016 the technique had not been standardized across practices.

Congenital nephrotic syndrome is a rare kidney disease which manifests in infants during the first 3 months of life, and is characterized by high levels of protein in the urine (proteinuria), low levels of protein in the blood, and swelling. This disease is primarily caused by genetic mutations which result in damage to components of the glomerular filtration barrier and allow for leakage of plasma proteins into the urinary space.

Reflux nephropathy is kidney damage (nephropathy) due to urine flowing backward (reflux) from the bladder toward the kidneys; the latter is called vesicoureteral reflux (VUR). Longstanding VUR can result in small and scarred kidneys during the first five years of life in affected children. The end results of reflux nephropathy can include high blood pressure, excessive protein loss in the urine, and eventually kidney failure.

<span class="mw-page-title-main">Ureterostomy</span>

A ureterostomy is the creation of a stoma for a ureter or kidney.

Urologic diseases or conditions include urinary tract infections, kidney stones, bladder control problems, and prostate problems, among others. Some urologic conditions do not affect a person for that long and some are lifetime conditions. Kidney diseases are normally investigated and treated by nephrologists, while the specialty of urology deals with problems in the other organs. Gynecologists may deal with problems of incontinence in women.

Bladder outlet obstruction occurs when urine is unable to flow from the kidneys through the ureters and out of the bladder through the urethra. Decreased flow of urine leads to swelling of the urinary tract, called hydronephrosis. This process of decreased flow of urine through the urinary tract can begin as early as during intrauterine life and it prevents normal development of fetal kidneys and fetal urine. Low levels of fetal urine leads to low amniotic fluid levels and incomplete lung maturation. Older children and adults can also experience bladder outlet obstruction; however, this process is usually reversible and isn't associated with as many poor outcomes as in infants with congenital bladder outlet obstruction.

<span class="mw-page-title-main">Supernumerary nipples–uropathies–Becker's nevus syndrome</span> Medical condition

Supernumerary nipples–uropathies–Becker's nevus syndrome is a skin condition that may be associated with genitourinary tract abnormalities. Supernumerary nipples, also referred to as polythelia or accessory nipples, is a pigmented lesion of the skin that is present at birth. This pigmentation usually occurs along the milk lines, which are the precursors to breast and nipple development. Clinically, this congenital condition is generally considered benign, but some studies have suggested there may be an association with kidney diseases and cancers of the urogenital system.

The genitourinary tract, or simply the urinary tract, consists of the kidneys, ureters, bladder, and the urethra. The kidney is the most frequently injured. Injuries to the kidney commonly occur after automobile or sports-related accidents. A blunt force is involved in 80-85% of injuries. Major decelerations can result in vascular injuries near the kidney's hilum. Gunshots and knife wounds and fractured ribs can result in penetrating injuries to the kidney.

Ultrasound of the urinary tract involves the use of an ultrasound probe to image parts of the urinary tract. The urinary tract is the path that urine follows after it is formed within the kidneys, and involves a left and right ureter, the bladder, and the urethra.

References

  1. ↑ Eagle JF, Barrett GS (1950). "Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases". Pediatrics. 6 (5): 721–36. doi:10.1542/peds.6.5.721. PMID   14797335. S2CID   26235702.
  2. ↑ Obrinsky W (1949). "Agenesis of abdominal muscles with associated malformation of the genitourinary tract; a clinical syndrome". Am J Dis Child. 77 (3): 362–73. doi:10.1001/archpedi.1949.02030040372008. PMID   18116668.
  3. ↑ Frolich, F. Der Mangel der Muskeln, insbesondere der Seitenbauchmuskeln. Dissertation: Wurzburg 1839.
  4. ↑ Baird PA, MacDonald EC (1981). "An epidemiologic study of congenital malformations of the anterior abdominal wall in more than half a million consecutive live births". Am. J. Hum. Genet. 33 (3): 470–8. PMC   1685049 . PMID   6454342.
  5. ↑ Bhat, Sriram M. (2016-06-30). SRB's Manual of Surgery. JP Medical. ISBN   9789351524168.
  6. ↑ Brinker MR, Palutsis RS, Sarwark JF 1995. The orthopaedic manifestations of prune-belly (Eagle-Barrett) syndrome. J Bone Joint Surg Am. 77(2):251-7
  7. ↑ Alford, Bennett A.; Peoples, W. M.; Resnick, Jack S.; L'Heureux, Philippe R. (November 1978). "Pulmonary Complications Associated with the Prune-Belly Syndrome" . Radiology. 129 (2): 401–407. doi:10.1148/129.2.401. ISSN   0033-8419. PMID   30115.
  8. ↑ "Prune belly syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov.
  9. ↑ synd/1499 at Who Named It?
  10. ↑ Fotter, Richard; Avni, E. Fred (2008). Pediatric uroradiology. Medical radiology (2 ed.). Berlin: Springer. p. 331. ISBN   978-3-540-33005-9.
  11. ↑ Docimo, Steven G; Canning, Douglas; Pippi Salle, Joao Luiz; El-Khoury, Antoine E, eds. (2006). The Kelalis--King--Belman Textbook of Clinical Pediatric Urology. United Kingdom: CRC Press. ISBN   9781498715997.
  12. ↑ Copel, Joshua (2017). Obstetric Imaging: Fetal Diagnosis and Care. Elsevier Health Sciences. p. 574. ISBN   9780323497367.
  13. ↑ Lacher, Martin; St. Peter, Shawn D.; Zani, Augusto, eds. (2021). Pearls and tricks in pediatric surgery. Cham, Switzerland: Springer. ISBN   978-3-030-51066-4.
  14. ↑ "OMIM Entry - # 100100 - PRUNE BELLY SYNDROME; PBS". www.omim.org.
  15. ↑ "default - Stanford Medicine Children's Health". www.stanfordchildrens.org. Retrieved 2023-08-25.
  16. ↑ Lott, Judy Wright; Kenner, Carole (2007). Comprehensive Neonatal Care: An Interdisciplinary Approach. Saunders Elsevier. p. 193. ISBN   9781416029427.
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