Congenital Diseases of the Kidney

• 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 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 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 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.