Kidney And Urinary Problems

Diseases of the urinary system are not common with EB, but when they do occur, they can be serious and even life-threatening. The urinary system consists of the kidneys, ureters, bladder and urethra.

The kidneys filter the blood and produce urine, and are a key component in maintaining fluid and electrolyte balance. The ureters are tubes that deliver urine from the kidneys to the bladder. The bladder is a reservoir that holds as much as 16 ounces of urine in healthy adults. When full, the urine is voided, leaving the bladder via the urethra, which connects the bladder to the outside of the body.

There are several problems that may arise in the urinary system. With regard to EB, a urine sample frequently reveals the presence of blood. This may be so because of blisters and/or erosions in the bladder or urethra and not because of renal or bladder disease.

With EB, obstructive uropathy is the most common complication, seen most frequently as a urethral stricture or urethral meatal stenosis. A urethral stricture (narrowing) may occur due to blistering and subsequent scarring of the urethra. Urethral meatal stenosis is a narrowing of the external opening of the urethra and also may occur as a result of blistering and scarring. Both have occurred in all subtypes of EB, according to the NEBR, but urethral meatal stenosis was the most common complication and was reported most frequently in patients with severe subtypes of junctional and recessive dystrophic EB (reported in 11.6 percent JEB-Herlitz and 8 percent Hallopeau-Siemens).

Both sexes may experience urethral strictures and meatal stenosis. In males, blisters may be observed over the meatus (the external opening of the urethra) at the end of the penis. If this occurs, the blister must be carefully drained to allow the flow of urine. This condition is less apparent in females but still may occur. If it is a frequent problem, the meatus may narrow considerably or seal (meatal stenosis), preventing the flow of urine altogether. The person may not be able to pass urine, or there may be a reduced flow or a change in the direction of the flow during urination. If the individual is not able to pass any urine, emergency medical attention is required. For males, placing a small piece of Mepitel at the end of the penis after urination and leaving it in place until the next urination may be an effective preventive measure.

Several methods have been used to treat urethral strictures. Each method requires consultation with an EB-informed urologist to determine the best treatment.

The supra-pubic catheter is placed through the abdominal wall and into the bladder. A balloon is inflated to keep it from coming out of the bladder. The catheter is capped and then opened periodically to be drained.

It is important to note that catheterization and scoping can result in blistering and erosions of the urethra, which can lead to additional scarring. If either procedure is absolutely necessary, the smallest, most flexible instruments should be used.

Along with obstructive uropathy, gomerulonephritis (acute and chronic), renal amyloidosis and IgA nephropathy have been reported in junctional and recessive dystrophic EB, and all can lead to chronic renal failure (CRF). Renal failure that results from these conditions may develop with a gradual loss of the kidneys’ ability to remove waste, concentrate urine and conserve electrolytes. Early signs of renal failure are fatigue, itching, headache, nausea, vomiting, weight loss and a general feeling of illness. All of these signs are non-specific and may be attributed to other things; therefore, blood and urine tests should be monitored.

The treatment for chronic renal failure is dialysis. Dialysis is a method of filtering the blood to remove impurities when the kidneys are unable to do so. Dialysis usually is not needed until the kidneys have lost 85 percent of their function. Two types of dialysis have been used to treat EB patients:

Both forms of dialysis take several hours, and there are risks with both types. A physician will decide the best course of treatment if dialysis is necessary.

Circumcision is a common area of concern for families with a son who is diagnosed with EB. If the parents were planning to have the child circumcised, an EB diagnosis should not affect that decision. The data suggests that, within the study population, circumcision was preformed within all subtypes of EB, and none of the study participants reported excessively poor or delayed healing.

Because the risk of kidney injury increases if genitourinary complications are not treated, guidelines are necessary for monitoring and managing these problems.