Congenital kidney diseases affect the important work of your kidneys and urinary tract. You have two kidneys located under your lower ribs on either side of your back. Their role is to remove waste and extra fluid from your blood. This liquid waste (urine) leaves your body through your ureters, bladder and urethra.

Congenital kidney diseases in children are often due to structural abnormalities of the kidney or urinary tract. Some of the more common childhood congenital kidney diseases are:

• Multicystic dysplastic kidney: Your child has fluid-filled cysts in their kidneys at birth that often go away by around age 5, as the kidney shrinks and disappears.
• Posterior urethral valve: An abnormal flap of tissue in the urethra of a male child that causes varying degrees of obstruction.
• Renal hypodysplasia: One of your child’s kidneys is smaller and does not function fully.
• Renal agenesis: Your child is born with only one kidney.
• Ureteropelvic junction obstruction: Your child has a blockage between their kidney and the tube that drains urine to their bladder (ureter)
• Vesicoureteral reflux: When urine flows backward from your child’s bladder to their ureter, usually because of an immaturity of the ureter as it enters into the bladder.

Inherited kidney diseases are often progressive, which means they get worse over time. Examples include:

• Alport syndrome: The blood vessels inside your kidneys are malformed, eventually leading to kidney failure.
• Autosomal dominant polycystic kidney disease: Cysts slowly grow in both your kidneys, which can lead to kidney failure over time.
• Fabry disease: Fat builds up in your kidneys — as well as the heart, skin and brain — causing kidney failure and other health problems.
• Nephronophthisis: Scarring in your kidneys decreases kidney function. Depending on the severity, kidney failure can occur in infancy, childhood or early adulthood.

Hereditary and congenital kidney diseases affect kidney function. Depending on the type of disease and its severity, you may experience no symptoms until the kidney function is very poor, or you may experience urinary or other symptoms.

Common Symptoms

Signs of hereditary and congenital kidney diseases include:

• Blood in your urine
• Poor appetite and failure to grow
• Extreme thirst and urination
• Frequent urinary tract infections
• Headaches
• High blood pressure
• Hydronephrosis in newborns, which is a buildup of urine in their kidneys
• Protein in your urine
• Pain along the side of your back
• Swelling in the feet, ankles or legs or around your eyes (edema)
• Urinary problems, such as poor bladder control (including bedwetting in children) or an inability to empty your bladder fully

Hereditary kidney diseases occur due to genetic changes (mutations) that pass from parent to child. In some cases, health care providers know the specific mutation that causes a particular disease.

Congenital kidney diseases are hereditary 10% to 20% of the time. For the remaining cases, the exact cause is not known. Experts believe they are likely due to a mix of genetic and environmental factors.

For pregnant women, their obstetrician may find a congenital kidney disease as part of routine prenatal ultrasounds. For children and adults, our providers use a range of tests to diagnose hereditary and congenital kidney disease, including:

• Blood tests to measure chemicals in your blood that could indicate a problem with your kidney function.
• Urine tests to check for blood or increased levels of protein that signal kidney disease.
• Imaging, such as ultrasound, CT or MRI, to look for cysts or changes in kidney structure.
• Kidney biopsy to collect a small sample of kidney tissue for examination under a microscope.
• Genetic testing to look for known genetic changes that cause hereditary and congenital kidney diseases.

Treatments for hereditary and congenital kidney diseases vary depending on the disease type. While some congenital kidney diseases are curable with surgery, people with progressive kidney disease require close monitoring and care. For all types of kidney diseases, our team is by your side with guidance and support.