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Bilateral Renal Agenesis or Severe Renal Hypoplasia (absence of both kidneys or undeveloped kidneys)

What is this condition and what is its significance?

Bilateral renal agenesis occurs in 1 out of every 4000 births, and it results in fetal death because of inadequate lung development. The lack of formation of urine causes a marked reduction in the amount of amniotic fluid, and this leads to underdevelopment of the lungs. The urinary bladder cannot be demonstrated on ultrasound examination. Severe renal hypoplasia causes a similar clinical syndrome, even though the undeveloped kidney is visible in some cases.

Renal agenesis frequently occurs in combination with other defects such as heart (14%) and skeletal (40%). Defects in the nervous system and digestive system have also been reported. In 10% of the cases of multicystic/dysplastic kidney, the other kidney is absent.

Studies have shown that there is a high frequency of chromosome abnormalities in cases of kidney disorders of this type. When renal agenesis occurs as an isolated finding, the risk of a chromosome abnormality is 5%, as opposed to 38% when there are other defects as well.

In some cases of renal agenesis, one of the parents lacks a kidney. Often the parent does not even know because it has no clinical significance.

What should be done when this condition is diagnosed?

The family should first be referred to a nephrologist for counseling about the implications. They should then be referred for genetic counseling to determine whether or not it is part of a genetic syndrome. Termination of pregnancy is recommended, and this should be accompanied by careful planning of what tests should be performed in order to confirm the presence of the condition in the fetus. Chromosome analysis and specific examination for additional defects should also be carried out on the fetus.

The parents should be referred for an ultrasound scan of the kidneys. The diagnosis of an abnormality in one of the parents increases the risk of recurrence to 50% in future pregnancies, whereas the absence of this condition in the parents considerably reduces the recurrence risk.
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