Renal agenesis

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ORPHA:411709OMIM:191830Q60.2Q60.0Q60.1
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5Specialists8Treatment centers

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Overview

Renal agenesis is a condition in which one or both kidneys fail to develop before birth. The kidneys are organs that filter waste and extra fluid from the blood to make urine. When only one kidney is missing, the condition is called unilateral renal agenesis. When both kidneys are missing, it is called bilateral renal agenesis. Unilateral renal agenesis is much more common and often less severe because the remaining kidney can usually grow larger and take over the work of both kidneys. Many people with one missing kidney live healthy lives and may not even know they have the condition until it is found during imaging for another reason. Bilateral renal agenesis is a very serious condition. Without any kidneys, a baby cannot produce urine, which is a major part of the amniotic fluid that surrounds the baby during pregnancy. Low amniotic fluid (called oligohydramnios) leads to underdeveloped lungs and other problems, a combination known as Potter sequence. Sadly, bilateral renal agenesis is usually fatal shortly after birth due to lung failure. Treatment depends on whether one or both kidneys are absent. For unilateral renal agenesis, monitoring kidney function and protecting the single kidney from injury are the main strategies. For bilateral renal agenesis, the outlook is much more challenging, and treatment options are very limited, though dialysis and kidney transplantation may be considered in rare cases where the baby survives the newborn period. Renal agenesis is also sometimes called kidney agenesis or absent kidney.

Key symptoms:

Absent kidney on one or both sidesLow amniotic fluid during pregnancy (oligohydramnios)Underdeveloped lungs in bilateral casesFlattened facial features (Potter facies) in bilateral casesLimb abnormalities in bilateral casesHigh blood pressure later in life (unilateral cases)Protein in the urine (unilateral cases)Reduced kidney function over time (unilateral cases)Abnormalities of the remaining kidney or urinary tractGrowth problems in severe casesBreathing difficulty at birth (bilateral cases)Abnormalities of the reproductive organs in some cases

Clinical phenotype terms (16)— hover any for plain English
Ureteral agenesisHP:0012300Potter faciesHP:0002009Aplasia/hypoplasia of the uterusHP:0008684Aplasia/Hypoplasia of the bladderHP:0010476Bilateral renal agenesisHP:0010958Absent vas deferensHP:0012873
Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Neonatal

Begins at or shortly after birth (first 4 weeks)

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Renal agenesis.

View clinical trials →

No actively recruiting trials found for Renal agenesis at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Renal agenesis community →

Specialists

5 foundView all specialists →
MM
Mauro Schenone, MD
ROCHESTER, MN
Specialist
PI on 4 active trials
YM
Yi-Bin A Chen, M.D.
BOSTON, MA
Specialist
PI on 1 active trial
LM
Lydie BURGLEN, MD
Specialist
PI on 1 active trial

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Renal agenesis.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Renal agenesis

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How well is my child's remaining kidney functioning, and how often should we check?,Are there any dietary changes or restrictions we should follow?,What activities or sports should be avoided to protect the single kidney?,Should our family have genetic testing to understand the cause and risk for future children?,What signs of kidney problems should I watch for as my child grows?,Will my child need to see a kidney specialist for life?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Renal agenesis

What is Renal agenesis?

Renal agenesis is a condition in which one or both kidneys fail to develop before birth. The kidneys are organs that filter waste and extra fluid from the blood to make urine. When only one kidney is missing, the condition is called unilateral renal agenesis. When both kidneys are missing, it is called bilateral renal agenesis. Unilateral renal agenesis is much more common and often less severe because the remaining kidney can usually grow larger and take over the work of both kidneys. Many people with one missing kidney live healthy lives and may not even know they have the condition until it

At what age does Renal agenesis typically begin?

Typical onset of Renal agenesis is neonatal. Age of onset can vary across affected individuals.

Which specialists treat Renal agenesis?

5 specialists and care centers treating Renal agenesis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.