Bilateral renal agenesis

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.

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.

Individuals with mutations in ITGA8, RET, or FGF20 may have a genetic condition called Hereditary Renal Adysplasia or Renal Hypodysplasia/aplasia (RHDA). Changes or mutations in the ITGA8, RET, or FGF20 genes can result in a range of kidney defects from a "silent" kidney malformation such as the absence of one kidney (unilateral renal agenesis) to the severe and deadly 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.

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.

Babies with bilateral renal agenesis are "squashed" in the uterus and will have other symptoms besides missing kidneys. Babies with bilateral renal agenesis might have dry loose skin, wide-set eyes, very small chins, prominent folds at the inner corner of each eye, abnormally developed legs and feet (club feet), and large low-set ears with a lack of ear cartilage. They will typically have underdeveloped lungs, unusually formed genitals, and no urinary bladder.

As of June 2019, there are clinical trials to look at experimental prenatal (before birth) treatment for bilateral renal agenesis. Contact https://clinicaltrials.gov to get the most up to date information on clinical trials. To find a Maternal fetal medicine doctor near you, use the Society for Maternal Fetal Medicine doctor finder to discuss what treatments might be available in your area.

Bilateral renal agenesis is most often found on ultrasound during pregnancy. Findings on the ultrasound include very low or no amniotic fluid around the baby after 17 weeks (oligohydramnios or anhydramnios) and missing kidneys and bladder.

Usually, bilateral renal agenesis is not genetic and genetic testing will not diagnosis the condition. However, 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), 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). Testing for one gene or a panel of genes related to RHDA in the United States can be performed on blood or prenatal samples and is ordered by a doctor. Your doctor or a medical geneticist can help determine what genetic testing may be right for you.

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.

Unfortunately, there is no regularly available treatment for babies with bilateral renal agenesis. There are a few case reports of infants undergoing experimental treatments early in pregnancy involving weekly injections of artificial fluid around the baby beginning at 24 weeks of pregnancy. This intervention can allow lungs to develop. Then, at birth, the babies were started on dialysis and stayed on dialysis until given a kidney transplant. These very few and rare babies have survived into childhood. Most babies do not undergo invasive research interventions, but to discuss all options for treatment, consult with a maternal fetal medicine doctor who specializes in high risk pregnancies. To find a Maternal fetal medicine doctor near you, use the Society for Maternal Fetal Medicine doctor finder.
As of July 2019, there was a center doing research to look at the effectiveness of this treatment. There were plans for a multi-center study as well. Contact https://clinicaltrials.gov to get the most up to date information on clinical trials.

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.

Usually, bilateral renal agenesis is multifactorial, meaning that a mix of genes and environmental factors cause it. When bilateral renal agenesis has a known genetic cause resulting from changes or mutations in ITGA8, RET, or FGF20 genes, inheriting the change can result in a range of kidney defects from a "silent" kidney malformation such as a slightly malformed kidney to the severe and deadly bilateral renal agenesis.

In inherited forms of bilateral renal agenesis, the disease is usually inherited in an autosomal recessive manner. Autosomal recessive inheritance means that an individual has to inherit two nonworking copies of a specific gene, one from each parent, in order to show symptoms of the disease or condition. However, there are also reports of autosomal dominantly inherited kidney defects including bilateral renal agenesis. Autosomal dominant inheritance means that an individual only needs to inherit one nonworking copy of a specific gene in order to show symptoms of the disease or condition. In both cases, not everyone who inherits one or two nonworking genes will have bilateral renal agenesis. There is variable expression and incomplete penetrance, as the changed gene that could cause kidney problems is passed from one generation to the next. Variable expression means that the type and severity of the condition, in this case kidney problems, can be different between different people, even those within the same family. Reduced penetrance occurs when not every person who has the necessary gene change will have kidney issues. Talking to a genetic professional can help you understand if genetic testing may be right for you. 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.

Donating money to help research in bilateral renal agenesis is possible through supporting more general efforts in kidney disease research.
You can give to the National Kidney Foundation. Go to https://www.kidney.org/. Click on the blue "Donate" button on the top bar on the homepage.
You can give to the American Association of Kidney Patients. Go to https://www.aakp.org/. Click on the green "donate" button in the top right corner.
You could also give to an organization that works broadly with birth defects. Go to http://birthdefects.org/. Click on the red "Donate Now" button on the bar at the top of the homepage.

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.

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

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).

There are many other conditions that have similarities to bilateral renal agenesis. Many of these are related to missing, malformed (renal dysplasia or multicystic kidneys), nonworking, or oddly placed kidneys (renal ectopia). Other conditions where there is no sign of kidney function include urinary tract blockage or malformed tubes that lead from the kidneys to the bladder or from the bladder out of the body. Additionally, bilateral renal agenesis can occur as part of a chromosomal abnormality such as trisomy 13 or 18. Talk to a medical professional who can review recurrence risks and other possible causes for kidney abnormalities and birth defects.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.

Because babies with bilateral renal agenesis rarely live into childhood, there are few support groups specific to the condition.
Facebook has a closed group called, "Bi-Lateral Renal Agenesis (Potters Syndrome)". They say they are "A group for discussion with others that have been touched by loss due to Potters Syndrome. And to hopefully answer any questions that you may have." You can find them at https://www.facebook.com/groups/37126760216/.

For parents of those who have experienced the death of an infant or the loss of a pregnancy related to any cause including bilateral renal agenesis, you may wish to be involved with Helping After Neonatal Death. ( http://www.handonline.org/resources.html )

Usually, bilateral renal agenesis is not genetic. 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 increased risk to have 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.