Renal agenesis


Renal agenesis

Description, Causes and Risk Factors:

Renal agenesis refers to a congenital absence of one or both kidneys. If bilateral (traditionally known as the classic Potter syndrome) the condition is fatal, whereas if unilateral, patients can have a normal life expectancy.

Approximately 1 out of every 550 babies born each year have unilateral renal agenesis. Babies with unilateral renal agenesis may have other associated birth defects (most commonly, involving the urinary system or genitals). If your child has unilateral renal agenesis, his or her doctor(s) will perform a thorough examination to identify any other birth defects which may be present. Most babies with unilateral renal agenesis lead normal lives; however, these individuals have an increased risk of kidney infections, kidney stones, hypertension (high blood pressure), and/or kidney failure.

The etiology in many cases of renal agenesis is currently unknown, but is thought to be multifactorial. An early vascular insult to the developing ureteric bud has been proposed.

Embryologically renal agenesis results from a failure of the proper development of the metanephros (the future definitive adult kidney) resulting in complete absence of a renal structure. This is thought to occur at around early pregnancy ( ~ 6 - 7 weeks). Abnormalities in the mesonephros may result not only in renal agenesis (due to absence of induction of the metanephros by the ureteral bud) but also internal genital malformations (due to failure of the Wolffian and Mullerian duct to develop or to involute).

Renal agenesis also has been associated with chromosomal abnormalities as trisomy 21, trisomy 22, trisomy 7, trisomy 10, 45, X mosaicism, and 22q11 microdeletion as well as congenital hearing loss and double uterus in females.

Symptoms:

Children with unilateral renal agenesis may have no symptoms or health problems. Some may have urinarytract infections or other problems urinating.Unfortunately, children with bilateral renal agenesis do not typically survive because of kidney and lung problems. These children do not have any kidney function. The kidneys produce the fluid that surrounds a developing fetus and helps the lungs develop. Infants with no fluid have severe lung problems at birth. Babiesmay have other birth defects, like clubfoot or malformed ears, because of the lack of fluid (called Potter's syndrome or Potter's sequence). About half of infants with renal agenesis have other birth defects.

Diagnosis:

The diagnosis of the disease is first indicated by the absence of amniotic fluid then by the absence of the bladder and the lack of kidneys. Further, Color Doppler has been found useful in those difficult exam to identify the lack of renal arteries. Before a final diagnosis is made one should think and if possible exclude the possibility of pelvic or ectopic kidneys that could compress the bladder and exclude the possibility of ectopic ureter that could explain the absence of bladder. The disease may be diagnosed by:

    Home Bladder Testing.

  • Home Urinary Tract Infection Tests.

  • Home Cystitis Tests.

  • Home Kidney Tests.

Treatment:

Once diagnosed, children with one kidney (also called solitary kidney) will be encouraged to protect the remaining kidney from infection or injury. They will receive examinations of the kidney periodically and require prompt treatment of any urinary tract infection. They may be counseled to avoid contact sports where the kidney could be injured. Blood pressure monitoring will be essential throughout life since its elevation can cause kidney damage.

Once detected, families where renal agenesis has occurred will be offered genetic counseling because of the possibility of recurrence in future pregnancies.

Protecting the kidney function is very important. Sometimes children will be prescribed a low dose of an antibiotic to take once a day to prevent kidney infection and damage. Blood pressure should be carefully monitored and elevations treated. Dialysis or kidney transplant are the only options to treat children whose solitary kidney has ceased to function.

Bilateral renal agenesis is fatal. If one kidney is present (unilateral renal agenesis) the child will develop normally. Many times the absence of a kidney is detected only incidentally when an older child or adult has an abdominal x-ray for some other reason. The remaining kidney, if properly functioning, can very effectively remove the wastes from the blood and keep the body entirely healthy.

NOTE: The above information is for processing purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.

DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.

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