Bilateral renal agenesis

Overview

What is bilateral renal agenesis?

Bilateral renal agenesis is a rare and almost always fatal health problem in which both kidneys are missing at birth. Kidneys normally develop during the second and third months (5th-12th weeks) of pregnancy. If neither kidney forms it means the baby is unable to make urine before or after birth. Fetal urine is the main component of amniotic fluid, the important fluid around the baby in the uterus which acts as a cushion during development. A baby with too little amniotic fluid around it (oligohydramnios) is "squashed" or compressed. A compressed baby doesn't have room to grow and develop which leads to multiple birth defects including lungs that can't function. About 40% of babies with bilateral renal agenesis are stillborn. The rest most often die within a few hours of birth due to underdeveloped lungs, with the longest reported survival at 39 days of life.

Having said this, there are a few case reports of infants undergoing numerous experimental treatments early in pregnancy involving weekly injections of artificial fluid around the baby to help their lungs develop. If healthy enough and given dialysis and a kidney transplant from birth, a very few number of babies with bilateral renal agenesis have survived into childhood. Maternal fetal medicine doctors (also called perinatologists) are high-risk pregnancy OB/gyns who have the most experience caring for moms and babies with bilateral renal agenesis. To find a Maternal fetal medicine doctor in a specific area, use the Society for Maternal Fetal Medicine doctor finder.

References
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Are there other names for bilateral renal agenesis?

How common is bilateral renal agenesis?

What is Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA)?

What causes bilateral renal agenesis?

How is Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA) related to bilateral renal agenesis?

Does bilateral renal agenesis happen more often in males or females?

Are there other names for bilateral renal agenesis?

Bilateral renal agenesis is sometimes called classic Potter syndrome. That name is no longer commonly used and when it is, it is called Potter sequence and applies to birth defects caused by multiple causes of low amniotic fluid. Inherited bilateral renal agenesis is also called Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA).

Bilateral renal agenesis is also sometimes called:

  • Renal hyposdysplasia
  • Renal adysplasia
  • Renal agenesis
  • Renal aplasia
  • Hereditary Renal Adysplasia
  • Renal Hypodysplasia/aplasia
How common is bilateral renal agenesis?

Bilateral renal agenesis is a condition occurring in 1 in 4500 to 1 in 4000 live births. It is found during pregnancy at a rate of 1 in 3000 to 1 in 1500 pregnancies. There is also a tendency for the disease to occur in babies of parents having kidney abnormalities.

What is Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA)?

Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA) is an inherited form of kidney and urinary tract defects caused by mutations in the genes ITGA8, RET, or FGF20. These birth defects can range from mild (one malformed but working kidney and one normal kidney) to severe (bilateral renal agenesis or complete absence of kidney development). If a parent has a kidney malformation such as the absence of one kidney (unilateral renal agenesis) then they are at an increased risk to have a baby affected by bilateral renal agenesis. A genetic counselor or medical geneticist can help determine if an individual could have undiagnosed RHDA and is at an increased risk, up to 50%, to have a baby with bilateral renal agenesis. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

What causes bilateral renal agenesis?

There are multiple possible causes for bilateral renal agenesis. Most often there is nothing a parent did or did not do to cause this birth defect and it resulted from an error during the baby's development. In some cases exposures during pregnancy such as uncontrolled maternal diabetes or taking certain drugs during pregnancy can increase the risk for bilateral renal agenesis. In rarer cases, if a parent has a kidney malformation or another child with a kidney malformation such as the absence of one kidney (unilateral renal agenesis) then they are at an increased risk to have a baby affected with bilateral renal agenesis. They may also have one or two inherited mutations (alterations) in one of three possible genes (ITGA8, RET, or FGF20). Individuals with mutations in ITGA8, RET, or FGF20 may have a genetic condition called Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA). A genetic counselor or medical geneticist can help determine if an individual could have undiagnosed RHDA and is at increased risk, up to 50%, to have a baby with bilateral renal agenesis. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

How is Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA) related to bilateral renal agenesis?

There are multiple possible causes for bilateral renal agenesis. Most often there is nothing a parent did or did not do to cause this birth defect and it resulted from an error during the baby's development. In some cases exposures during pregnancy such as uncontrolled maternal diabetes or taking certain drugs during pregnancy can increase the risk for bilateral renal agenesis. In rarer cases, if a parent has a kidney malformation or another child with a kidney malformation such as the absence of one kidney (unilateral renal agenesis) then they are at an increased risk to have a baby affected by bilateral renal agenesis. They may also have inherited mutations (alterations) in one of three possible genes ITGA8, RET, or FGF20). Individuals with mutations in ITGA8, RET, or FGF20 may have a genetic condition called Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA). A genetic counselor and medical geneticist can help determine if an individual could have undiagnosed RHDA and is at increased risk up to 50% to have a baby with bilateral renal agenesis. A medical geneticist can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website . Genetic counselors in the United States can be found on the National Society of Genetic Counselors website. Genetic counselors in Canada can be found at the Canadian Association of Genetic Counselors website.

Does bilateral renal agenesis happen more often in males or females?

Bilateral renal agenesis occurs 2.5 times more frequently in males than females.

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