Fraley syndrome is a condition where the superior infundibulum of the upper calyx of the kidney is obstructed by the crossing renal (upper or middle section) artery branch, causing distension and dilatation of the calyx and presenting clinically as

haematuria 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 ...

and nephralgia (ipsilateral flank pain). Furthermore, when the renal artery obstructs the proximal collecting system, filling defects can occur anywhere in the calyces, pelvis, or ureter. The condition was first described in the ''New England Journal of Medicine'' by urologist Elwin E. Fraley in December 1966. While this is a rare disorder, most cases are asymptomatic. When complications do arise, it can be treated surgically after testing is done to identify the renal vasculature that is impacting renal output. Another possible cause for similar

hydronephrosis Hydronephrosis is the hydrostatic dilation of the renal pelvis and Renal calyx, calyces as a result of obstruction to urine flow downstream. Alternatively, hydroureter describes the dilation of the ureter, and hydronephroureter describes the dila ...

is megacalicosis, for which surgery is considered inappropriate.

Signs and symptoms

The signs and symptoms of this disorder can vary from asymptomatic microhematuria to severe, recurrent flank pain associated with

kidney stone Kidney stone disease (known as nephrolithiasis, renal calculus disease, or urolithiasis) is a crystallopathy and occurs when there are too many minerals in the urine and not enough liquid or hydration. This imbalance causes tiny pieces of cr ...

formation and infections. Patients may also present with a fever, nausea, vomiting,

dysuria Dysuria refers to painful or uncomfortable urination. It is one of a constellation of ''irritative'' bladder symptoms (also sometimes referred to as lower urinary tract symptoms), which includes nocturia and urinary frequency. Diagnosis The cl ...

and

polyuria Polyuria () is excessive or an abnormally large production or Frequent urination, passage of urine (greater than 2.5 L or 3 L over 24 hours in adults). Increased production and passage of urine may also be termed as diuresis. Polyuria often appe ...

. If untreated, the chronic infections can progress causing renal damage.

Cause

The symptoms are caused when the individual has an anatomically low lying kidney. This is known as ptosis of the kidney. This occurs normally on the right side, but bilateral involvement is possible. The reason that the right side is more commonly affected is because the vasculature on this side tends to be longer due to the positioning of the

aorta The aorta ( ; : aortas or aortae) is the main and largest artery in the human body, originating from the Ventricle (heart), left ventricle of the heart, branching upwards immediately after, and extending down to the abdomen, where it splits at ...

, which lies slightly left of the midline. The renal vessels may then drape over a portion of the superior infundibulum causing compression, and ultimately partial obstruction to the superior calyces. When the obstruction occurs, distension of the calyx, which is known as

, leads to the clinical presentation of the disorder.

Pathophysiology

When a blood vessel, usually the renal artery, crosses over the superior infundibulum of the kidney (one or both), fluid begins to build up, causing the

calyx CALYX, Inc. is a non-profit publisher of art and literature by women founded in 1976 based in Corvallis, Oregon. CALYX publishes both '' CALYX, A Journal of Art and Literature by Women'' twice a year and CALYX Books, which publishes one to three ...

to become distended. This stretching allows the backed up fluid to be more evenly distributed, which can slow the amount of damage done on the kidney. Within this area, the ability to remove waste and maintain mineral and fluid balance become impaired. This leads to an increased risk of infection and stone formation, often causing flank pain. Furthermore, infections can cause further inflammation of the lining of the urinary tract; enough to cause blood to appear in the urine. Thickening of the walls of the calyces can interrupt blood flow, and eventually lead to tissue damage if untreated. This damaged tissue may be replaced by fibrous scar tissue. Kidney scarring can lead to

high blood pressure Hypertension, also known as high blood pressure, is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms itself. It is, however, a major ri ...

Diagnosis

The diagnosis is made depending on the clinical presentation of the patient. For patients that present with the classical symptoms of the disorder, specifically flank pain and

hematuria 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 ...

, the initial tests include a

urinalysis Urinalysis, a portmanteau of the words ''urine'' and ''analysis'', is a Test panel, panel of medical tests that includes physical (macroscopic) examination of the urine, chemical evaluation using urine test strips, and #Microscopic examination, m ...

and

complete blood count A complete blood count (CBC), also known as a full blood count (FBC) or full haemogram (FHG), is a set of medical laboratory tests that provide cytometry, information about the cells in a person's blood. The CBC indicates the counts of white blo ...

. Next, imaging of the affected side includes an ultrasound or CT scan of the kidney. Both of these tests would show the distension of the affected kidney. To confirm the diagnosis, a

CT angiogram Computed tomography angiography (also called CT angiography or CTA) is a computed tomography technique used for angiography—the visualization of arteries and veins—throughout the human body. Using contrast injected into the blood vessels, im ...

can be performed, which would track the vascular path over the kidney, showing that a vessel is obstructing the superior calyces. Alternatively, a physician may perform a

cystoscopy Cystoscopy is endoscopy of the urinary bladder via the urethra. It is carried out with a cystoscope. The urethra is the tube that carries urine from the bladder to the outside of the body. The cystoscope has lenses like a telescope or microscop ...

with a

retrograde pyelogram Pyelogram (or pyelography or urography) is a form of imaging of the renal pelvis and ureter. Types include: * Intravenous pyelogram – In which a contrast solution is introduced through a vein into the circulatory system. * Retrograde pyelogra ...

, which would demonstrate the level of the obstruction and rule out

nephrolithiasis Kidney stone disease (known as nephrolithiasis, renal calculus disease, or urolithiasis) is a crystallopathy and occurs when there are too many minerals in the urine and not enough liquid or hydration. This imbalance causes tiny pieces of cr ...

. For those individuals that do not present with any symptoms, hematuria may be found on an urinalysis when coming in for a routine physical. Since hematuria, to any degree, is an abnormal finding, this would lead to further imaging to diagnose its cause. This imaging would be a

CT scan A computed tomography scan (CT scan), formerly called computed axial tomography scan (CAT scan), is a medical imaging technique used to obtain detailed internal images of the body. The personnel that perform CT scans are called radiographers or ...

or a

renal ultrasound Renal ultrasonography (Renal US) is the examination of one or both kidneys using medical ultrasound. Ultrasonography of the kidneys is essential in the diagnosis and management of kidney-related diseases. The kidneys are easily examined, and most ...

, which would show evidence of hydronephrosis, and lead to the same diagnostic path as those with the classic signs and symptoms.

Treatment

Once the diagnosis has been made, the treatment for this disorder is a partial

nephrectomy A nephrectomy is the surgical removal of a kidney, performed to treat a number of kidney diseases including kidney cancer. It is also done to remove a normal healthy kidney from a living or deceased donor, which is part of a kidney transplant pro ...

involving the affected calyces. This relieves the obstruction, but leads to the loss of

nephron The nephron is the minute or microscopic structural and functional unit of the kidney. It is composed of a renal corpuscle and a renal tubule. The renal corpuscle consists of a tuft of capillaries called a glomerulus and a cup-shaped structu ...

s and renal function. With newer microscopic techniques, surgeons are now able to re-route the renal vasculature and relieve the compression on the affected calyces, while sparing the nephrons and renal function. This technique is known as Fraley's infundibulopyelostomy.

Prognosis

The expected outcome for patients with this disorder is generally good. Today's surgical techniques are nearly always effective at relieving the obstruction, thus curing the individual. Consequently, there are some risks that come with having a surgical procedure done, which would need to be discussed with the attending physician. If left untreated, this disorder may result in chronic infections. Most people can function with one working kidney, so if kidney failure occurs it may not impact the overall health of the individual. However, this is a rare occurrence and surgical intervention is almost always performed before this occurs. Most patients with this disorder do well and have no long-term problems after treatment.

Research

Due to the fact that Fraley Syndrome is caused by a rare anatomical abnormality, current research revolves around treatment methods. There have been descriptions of nephron-sparing approaches such as infundibulo-infundibulostomy, infundibulo-pyelostomy, infundibuloplasty with vasculopexy, vasculopexy with nephropexy, and ligation of a branch of the posterior segmentary artery. In 2016, a

laparoscopic Laparoscopy () is an operation performed in the abdomen or human pelvis, pelvis using small Surgical incision, incisions (usually 0.5–1.5 cm) with the aid of a camera. The laparoscope aids diagnosis or therapeutic interventions with a few ...

approach was used to treat an individual with Fraley Syndrome. Specifically, a laparoscopic YV-infundibulo-pyeloplasty with vasculopexy of a posterior segmental renal artery was performed. The results were a less invasive, and the surgeon was able to view structures under magnification. Additionally, in 2018, a laparoscopic calycectomy was performed without clamping of renal branches. This allowed for the preservation of renal tissue, and thereby preserving arterial flow to avoid

parenchyma upright=1.6, Lung parenchyma showing damage due to large subpleural bullae. Parenchyma () is the bulk of functional substance in an animal organ such as the brain or lungs, or a structure such as a tumour. In zoology, it is the tissue that ...

ischemia Ischemia or ischaemia is a restriction in blood supply to any tissue, muscle group, or organ of the body, causing a shortage of oxygen that is needed for cellular metabolism (to keep tissue alive). Ischemia is generally caused by problems ...

References

{{DEFAULTSORT:Fraley Syndrome Kidney diseases