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Congenital Diseases of the Kidney

Congenital Diseases of the Kidney
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Congenital diseases of the kidney are renal conditions with which a child is born. These conditions are passed down through genetics. Some of the most prevalent congenital diseases of the kidney include:

  • Polycystic kidney disease (PKD). PKD is a genetic condition in which multiple cysts (abnormal sacs containing fluid) grow in the kidneys. If not properly treated and managed, PKD can lead to kidney failure. There are two types of PKD:
    • Autosomal dominant polycystic kidney disease (ADPKD). Representing about 90 percent of all PKD cases, symptoms of ADPKD typically present between the ages of 30 and 40. However, some patients do develop symptoms as children.
    • Autosomal recessive polycystic kidney disease (ARPKD). ARPKD is the more rare form of PKD. Symptoms of this condition begin very early in life, even while still in the womb.
  • Unilateral renal agenesis (URA). In this condition, one of the kidneys fails to develop in utero. Most individuals with unilateral renal agenesis live healthy, normal lives with little complications.
  • Bilateral renal agenesis (BRA). In this condition, both kidneys fail to develop in utero.

The main symptoms of polycystic kidney disease (PKD) include:

  • High blood pressure
  • Pain or tenderness in the abdomen
  • Hematuria
  • Frequent urination
  • Pain in the sides
  • Urinary tract infection
  • Kidney stones

Other symptoms of PKD are:

  • Pain or heaviness in the back
  • Skin that bruises easily
  • Pale skin color
  • Fatigue
  • Joint pain
  • Fingernail and toenail abnormalities, such as horizontal ridges across the nails, nails that are somewhat spoon-shaped and concave or white streaks and spots

Symptoms of unilateral renal agenesis (URA) include:

  • High blood pressure
  • Proteinuria
  • Developmental defects in the inner ear, genital tract, head or vertebrae
  • Reduced glomerular filtration rate (GFR), which measures the kidneys’ ability to filter waste
  • Swelling in the face, hands or legs
  • Hematuria
  • Foamy urine

Appearing in newborns, symptoms of bilateral renal agenesis (BRA) include:

  • Widely separated eyes with skin folds over the upper eyelids
  • Ears that are set low
  • Nose that is pressed flat and broad
  • Receding chin
  • Limb defects

Diagnosis of Congenital Diseases of the Kidney

Your child’s doctor can diagnose a congenital kidney disease using one or more of the following tests:

  • Blood test. A sample of your child’s blood will be analyzed in a laboratory.
  • Urinalysis. A sample of your child’s urine will be analyzed in a laboratory.
  • Ultrasound. An ultrasound may be performed to examine kidney structure and function without using radiation.
  • Computed tomography. A computed tomography (CT) scan may be performed to look for abnormalities in the kidneys.
  • Magnetic resonance imaging. Magnetic resonance imaging (MRI) may be used to create detailed images of the kidneys without using radiation.

Treatments

Treatments

There are no cures for congenital diseases of the kidney. These conditions require lifelong monitoring and treatment. As a general rule, if your child has PKD, URA or BRA, he or she should avoid contact sports in which direct impact or trauma to the back or abdomen is likely. Your child should also follow a low-sodium diet to help with high blood pressure management.

Treatment for PKD includes:

  • Medicine. Your child will take a combination of prescription and over-the-counter medicines to manage his or her symptoms, including:
    • Blood pressure medicine to regulate high blood pressure
    • Antibiotics to treat urinary tract infections
    • Diuretics to remove excess fluid and salt and to lower blood pressure
    • Pain medicine to reduce abdominal pain caused by inflamed kidneys
  • Low-sodium diet. In order to help control blood pressure, your child should follow a diet that is low in salt.
  • Drain insertion. Drain insertion is an interventional radiology procedure that allows doctors to drain cysts in the kidneys.
  • Dialysis. When the kidneys are not performing their normal function of cleaning and filtering the blood, a machine can be used to do this work for them.
  • Kidney transplant. If both kidneys become nonfunctional, a kidney transplant may be a good treatment option.

Treatment for URA includes:

  • Monitoring of symptoms. You should carefully monitor your child's symptoms to catch complications early.
  • Annual tests. Your child should have his or her blood pressure read once a year. Blood tests and a urinalysis should also be performed annually to check the health of the kidneys.

Treatment for BRA includes:

  • Chronic peritoneal dialysis. Your child will require chronic peritoneal dialysis until he or she is strong enough to receive a kidney transplant.
  • Kidney transplant. Once your child receives a donated kidney, he or she often lives a relatively normal, healthy life.

It is important that you and your child follow the treatment plan that your child’s nephrologist has recommended, which will be tailored to his or her specific condition and needs.

Key Points to Remember

Key Points to Remember

  • Congenital diseases of the kidneys are conditions with which an individual is born. Which type of condition is based on genetics and development in the womb.
  • There are no cures for congenital diseases of the kidney, but many of the symptoms can be managed with careful monitoring and treatment.
  • Children living with congenital kidney diseases should follow a low-salt diet and avoid contact sports.

Support Services & Resources

Support Services & Resources

Visit the trusted websites below to learn more about congenital diseases of the kidney.

Riley at IU Health offers a broad range of supportive services to make life better for families who choose us for their children's care.

Learn More About Riley Support Services

National Kidney Foundation

Visit this website to learn more about living with one kidney.

National Kidney Foundation

The National Kidney Foundation provides answers to common questions related to polycystic kidney disease.

National Institute of Diabetes and Digestive and Kidney Diseases

Discover more in-depth information about polycystic kidney disease from the National Institutes of Health.

National Institute of Diabetes and Digestive and Kidney Diseases

This National Institutes of Health website covers steps that people with one kidney can take to protect their health.


Locations

Locations

Locations

In addition to our primary hospital location at the Academic Health Center in Indianapolis, IN, we have convenient locations to better serve our communities throughout the state.

Sort through 3 facilities offering Congenital Diseases of the Kidney care by entering your city or zip below.

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Departments Treating This Condition

Departments Treating This Condition

  • Nephrology & Kidney Diseases
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