Congenital Anomalies

The occurrence of anomalies (developmental disorders) related to the kidneys and urinary tract during the development of the baby in the womb, and the incomplete development is called urological congenital anomaly. Urological anomalies are among the common congenital anomalies.

Approximately 20-30% of the anomalies seen in the prenatal period are urological congenital anomalies. Individuals with the disease may have unilateral or bilateral anomalies. Problems may occur with the kidneys, bladder, urethra (the blood that carries urine from the bladder to the outside) and ureters (the channels that carry urine from the kidney to the bladder).

The development of the kidneys begins in the 3rd week in the womb and continues until the 36th week. Environmental factors or genetic causes are blamed for the development of urological congenital anomalies.

Urinary system anomalies may be associated with some genetic syndromes (renal coloboma syndrome, 17g12 syndrome, fraser syndrome…). In addition to urological anomalies, pathologies of other organs may also be seen in these patients. If there is a urological congenital anomaly in the family, it is important to receive genetic counseling to learn about the risk of other family members having anomalies. Genetic mutations have been shown to play a role in 20% of cases.

Urological congenital anomalies are seen in one in every 500 newborns. Approximately half of children with chronic renal failure; In approximately 7% of adult patients, the cause is congenital anomaly. Diagnosis can often be made with a detailed ultrasound performed while in the womb. In the postnatal and adult periods, renal ultrasound and other imaging methods are used in the diagnosis of urological congenital anomalies.

A single organ or multiple organs in the urinary system may be affected. Depending on the part that is not developing, there may be life-threatening situations in early infancy (when both kidneys are not developed) or problems that are not noticed until adulthood.

Patients may develop recurrent urinary tract infections and kidney failure in the future. The need for hemodialysis in adulthood is an expected situation in patients who develop renal failure.

The most common urological congenital anomaly is hydronephrosis and some types of urological congenital anomalies are listed below.

Hydronephrosis (accumulation of urine in the kidney); In case of an obstruction or insufficiency in the urinary tract that prevents the flow of urine, urine accumulates in the kidney and swelling occurs in the kidneys. Hydronephrosis may occur in the unborn baby in one in every 100 pregnancies. There are many reasons that lead to hydronephrosis. In some cases, these causes can be serious enough to cause kidney damage.

Symptoms of Urological Congenital Anomaly

Urological anomaly symptoms vary depending on which urological anomaly it is and how serious it is. Again, symptoms may vary depending on the age of the patient.

Urological anomalies seen in the unborn baby may lead to low maternal abdominal fluid, that is, oligohydramnios. Over time, this can lead to developmental delay in the baby and, in more serious cases, fetal death.

Due to urological anomalies, damage to the kidneys may increase over time and end-stage renal failure may develop. Patients with severe congenital kidney anomalies develop kidney failure until the age of 45 (average age 31) and subsequently require hemodialysis.

In severe cases, kidney failure may occur in early infancy. In some patients, there are other system and organ anomalies accompanying urological anomalies, and there may be extra symptoms related to these organs.

Abdominal enlargement due to enlargement of the urinary bladder
Malnutrition and weight gain disorder in newborns
Increased urinary tract infections
electrolyte disorders
Delay in entering puberty
short stature
Anemia
Hypertension
cardiovascular disease