Overview
LAMB2-related infantile-onset nephrotic syndrome is a rare genetic kidney disease that begins in the first months of life. It is most commonly known as Pierson syndrome when it occurs together with eye abnormalities, though some patients may have kidney disease without the full set of features. The disease is caused by changes (mutations) in the LAMB2 gene, which provides instructions for making a protein called laminin beta-2. This protein is a critical building block of the basement membranes — thin sheets of tissue that support and filter in the kidneys, eyes, and nervous system. In the kidneys, the damaged basement membrane cannot properly filter blood, leading to large amounts of protein leaking into the urine (nephrotic syndrome). Babies with this condition typically develop severe swelling (edema), low protein levels in the blood, and progressive kidney failure, often within the first year of life. Many affected children also have eye problems, most notably very small or abnormally shaped pupils (microcoria), which can affect vision. Some children may also have neurological issues such as developmental delays or muscle weakness. Treatment is mainly supportive. There is currently no cure for this condition. Management focuses on controlling symptoms of nephrotic syndrome with medications, nutritional support, and eventually kidney dialysis or transplantation when kidney failure occurs. Eye and neurological problems are managed by the appropriate specialists. Despite treatment, the disease often follows a serious course, and early diagnosis is important to plan the best possible care.
Key symptoms:
Severe swelling of the body, especially around the eyes, legs, and belly (edema)Large amounts of protein in the urineLow protein levels in the bloodKidney failure in infancy or early childhoodVery small or fixed pupils in the eyes (microcoria)Vision problems or blindnessHigh cholesterol levelsPoor weight gain and growthMuscle weakness or low muscle toneDevelopmental delaysFrequent infectionsHigh blood pressureAbnormal lens shape in the eyes
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for LAMB2-related infantile-onset nephrotic syndrome.
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Specialists
View all specialists →No specialists are currently listed for LAMB2-related infantile-onset nephrotic syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to LAMB2-related infantile-onset nephrotic syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
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.What specific LAMB2 mutations does my child have, and what does this mean for the severity of the disease?,When is my child likely to need dialysis, and what type would be best?,When should we start planning for a kidney transplant, and can a family member be a donor?,What eye problems should we watch for, and how often should my child see an eye doctor?,Are there any clinical trials or new treatments being studied for this condition?,What developmental therapies should my child be receiving, and how do we access them?,What are the signs of a medical emergency that I should watch for at home?
Common questions about LAMB2-related infantile-onset nephrotic syndrome
What is LAMB2-related infantile-onset nephrotic syndrome?
LAMB2-related infantile-onset nephrotic syndrome is a rare genetic kidney disease that begins in the first months of life. It is most commonly known as Pierson syndrome when it occurs together with eye abnormalities, though some patients may have kidney disease without the full set of features. The disease is caused by changes (mutations) in the LAMB2 gene, which provides instructions for making a protein called laminin beta-2. This protein is a critical building block of the basement membranes — thin sheets of tissue that support and filter in the kidneys, eyes, and nervous system. In the ki
How is LAMB2-related infantile-onset nephrotic syndrome inherited?
LAMB2-related infantile-onset nephrotic syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does LAMB2-related infantile-onset nephrotic syndrome typically begin?
Typical onset of LAMB2-related infantile-onset nephrotic syndrome is infantile. Age of onset can vary across affected individuals.