What are the other Names for this Condition? (Also known as/Synonyms)
- Agenesis of Kidneys
- Bilateral Congenital Absence of Kidneys
- Renofacial Syndrome
What is Bilateral Renal Agenesis? (Definition/Background Information)
- Bilateral Renal Agenesis is a congenital, genetic disorder characterized by the absence of both kidneys at birth. It is an abnormal condition in which the kidneys fail to develop in a fetus (the developing baby within the mother's womb)
- The signs and symptoms of Bilateral Renal Agenesis are a deficiency of amniotic fluid in a pregnant woman and the absence of a urinary bladder and both kidneys in the developing fetus. The complications of the condition include amniotic fluid deficiency, pulmonary hypoplasia, and abnormal facial expressions
- Treatment and management of the condition is not effective, and neonatal death occurs within a few hours of the birth. Currently, there is no definitive method to prevent Bilateral Renal Agenesis
Who gets Bilateral Renal Agenesis? (Age and Sex Distribution)
- The disorder is common in infants who are born to parents who suffer from kidney malformations (such as unilateral renal agenesis)
- Bilateral Renal Agenesis is more common in male children
What are the Risk Factors for Bilateral Renal Agenesis? (Predisposing Factors)
Risk factors associated with Bilateral Renal Agenesis are:
- It is a congenital and genetic disorder. Genetic conditions are the only risk factors that increase the chances of this condition
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Bilateral Renal Agenesis? (Etiology)
- Bilateral Renal Agenesis is a congenital genetic disorder that is inherited in an autosomal dominant pattern
Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
What are the Signs and Symptoms of Bilateral Renal Agenesis?
The following are the signs and symptoms of Bilateral Renal Agenesis:
- Deficiency of amniotic fluid in a pregnant women; the amniotic fluid acts as a cushion for the developing baby
- Absence of urinary bladder and both kidneys in the developing fetus
How is Bilateral Renal Agenesis Diagnosed?
A diagnosis of Bilateral Renal Agenesis requires:
- Physical exam evaluation of family history (for kidney malformations)
- A fetal anomaly ultrasound scan performed during the 18th to 20th week of the gestation will reveal the absence of amniotic fluid, bladder, and the kidneys
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Bilateral Renal Agenesis?
The following are the complications associated with Bilateral Renal Agenesis:
- Oligohydramnios: Deficiency of amniotic fluid in pregnant women
- Potters sequence that include:
- Pulmonary hypoplasia: Incomplete development of the lungs
- Low set ears
- Abnormal facial expressions
- Talipes: Deformity in one or both feet
- Death of the neonate
How is Bilateral Renal Agenesis Treated?
Treatment and management of Bilateral Renal Agenesis is ineffective. The newborn child invariably dies within a few hours of birth.
How can Bilateral Renal Agenesis be Prevented?
- Currently, there are no specific methods or guidelines to prevent Bilateral Renal Agenesis, since it is a genetic condition
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
An ultrasound scan during the early months of pregnancy may reveal the defect in the fetus. Genetic counseling can help at this stage to discontinue the pregnancy.
What is the Prognosis of Bilateral Renal Agenesis? (Outcomes/Resolutions)
The prognosis of Bilateral Renal Agenesis is very poor; neonatal deaths are unavoidable.
Additional and Relevant Useful Information for Bilateral Renal Agenesis:
The following DoveMed website link is a useful resource for additional information: