Definition and Overview

The kidneys are responsible for the removal of waste products in the body through urine. They also control the body’s water levels as well as regulate blood pressure and the levels of other chemicals in the blood. The kidneys, which are part of the urinary tract together with the ureters, the bladder, and the urethra, produce urine from the waste products of the body. The urine flows from the kidneys to narrow tubes called ureters (each kidney has a ureter). From the ureters, the urine gets collected in the bladder. Once the bladder is full, urine is released through another small tube called the urethra. Abnormalities in kidneys and the urinary track lead to a wide variety of kidney diseases.

Congenital kidney disease is a type that stems from birth. It may also be referred to as inherited kidney disease because more often than not, individuals have a certain predisposition for experiencing it due to a family history of the disease. Since the anomalies of the kidney disease appear from birth, infants and children are the ones primarily affected. If the symptom is not treated and resolved, the disease can progress throughout adulthood, possibly leading to chronic kidney failure.

Cause of Condition

There are many different categories of congenital kidney disease; some may be caused by the defects in the kidney themselves while some involve the malformation of the genitourinary tract. These include:

  • Primary defects of the kidney tissue – One common problem associated with this category is renal dysplasia where the kidneys may look normal when viewed on ultrasound or an X-ray but there are problems with them on a microscopic level. The kidneys may have fibrosis (scar tissue), some pieces of cartilage and in some cases, the kidneys just didn’t develop properly. Babies that are born with renal dysplasia may need support until adulthood depending on the severity of the condition.

  • Congenital problems with the urinary tract – Hydronephrosis is the swelling of kidneys due to urine buildup and can affect one or both kidneys. Congenital hydronephrosis may occur with or without obstruction in the renal system, particularly when it impedes the flow of urine from the kidney to the bladder and urethra. If it happens without obstruction, the main causes may be due to the fetal kidney unable to concentrate urine, which leads to a large volume flowing down the ureter.

When there is an obstruction, hydronephrosis may be due to posterior urethral valves - extra tissue growing in the urethra that blocks the flow of urine from the ureter to the bladder. This condition mostly affects young males and happens during early kidney development. Another congenital defect is the ureteropelvic junction obstruction (UPJ) that is caused when a band of fibrous tissue constricts the top of the ureter, thereby affecting the flow of urine. It can be unilateral (affecting one kidney) or bilateral (two kidneys). The ureterovesical junction (UVJ) obstruction affects the connection between the ureter and the bladder. It can also occur either unilaterally or bilaterally and occurs less frequently than UPJ.

  • Cystic diseases – There are two main types of cystic diseases – polycystic kidney disease (PKD) and multicystic kidney disease (MKD). PKD is a condition where fluid-filled cysts develop in both kidneys. The kidneys start to form cysts during infancy but in some cases, they only appear later in life. In either case, the cysts increase in number and size until they impair kidney function. Multicystic kidney disease is very similar to PKD such that they both develop cysts in the kidneys. The difference with MKD is that the cysts (may be larger in size than PKD) develop in only one kidney, one that has not developed properly. In this case, the normal kidney usually takes over the function of the affected kidney.

Key Symptoms

As there are many different conditions that fall under congenital kidney disease, making it difficult to pinpoint specific symptoms for each. There are also other symptoms that show in the latter part of the course of the disease. However, there are common symptoms of congenital kidney disease and these include:

  • Fever
  • Edema or swelling around the eyes, face, feet, and ankles
  • Burning sensation or pain during peeing, difficulty urinating
  • Significant increase in the frequency of urination
  • Difficulty in controlling urination in kids who are mature enough to use the toilet
  • Recurrence of nighttime bedwetting (in kids who have been dry for several months)
  • Blood in the urine
  • High blood pressure

Who to See and Types of Treatments Available

When a baby is predisposed to having congenital kidney disease due to family history, the doctor may prescribe prenatal ultrasound examinations before birth. These ultrasound exams are performed to assess the fetus’ kidneys and urinary tract to see if there are abnormalities occurring during development. If there are any anomalies detected, the doctor will monitor them. However, most treatment programs can only be implemented after the baby is born.

Once born, there are certain tests that are performed to ascertain any congenital kidney diseases. These may include blood tests, monitoring of blood pressure and additional ultrasound examinations. There is also a voiding cystourethrogram test that checks the function of the bladder and urethra. A renal scan, another type of x-ray, may also be performed once the baby has grown and the kidneys are fully functional. This test measures the time the kidneys expel the wastes and will show if the kidneys aren’t working properly.

Even during adulthood, these tools – ultrasound, voiding cystourethrogram and renal scans – may be utilized to check for kidney disease. Regular blood and urine tests also monitor kidney function. There are other procedures that can diagnose kidney diseases like cystoscopy that allows the doctor to look inside the bladder and urethra.

In some cases, medication and monitoring of food intake may not be enough to treat kidney disease. In such cases, surgery may be required like in cases of obstruction. When the congenital kidney disease has progressed, there may be a need for dialysis and/or a kidney transplant.


  • National Institute of Diabetes and Digestive and Kidney Diseases.
  • National Library of Medicine.
  • National Kidney Disease Education Program.
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