Overview
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (sometimes called HUPRA syndrome) is an extremely rare inherited metabolic condition that affects multiple body systems. The disease is caused by a problem in how the body processes certain building blocks needed for making proteins. This leads to a combination of serious health issues including high levels of uric acid in the blood (hyperuricemia), high blood pressure in the lungs (pulmonary hypertension), progressive kidney failure, and a condition called metabolic alkalosis where the blood becomes too alkaline. This syndrome typically appears in infancy or early childhood. Affected babies may show poor growth, difficulty feeding, and signs of kidney problems early in life. The pulmonary hypertension can cause breathing difficulties and put strain on the heart. The kidney disease tends to get worse over time and can eventually lead to kidney failure requiring dialysis or transplant. Treatment is mainly supportive, meaning doctors focus on managing each symptom individually rather than curing the underlying cause. This may include medications to lower uric acid levels, drugs to treat pulmonary hypertension, management of kidney disease, and correction of the blood's acid-base balance. Because this condition is so rare, treatment approaches are still evolving, and care is best managed by a team of specialists working together.
Also known as:
Key symptoms:
High uric acid levels in the bloodHigh blood pressure in the lungsProgressive kidney failureBlood that is too alkaline (metabolic alkalosis)Poor growth and failure to thriveDifficulty feeding in infancyShortness of breath or rapid breathingLow birth weight or small sizeFatigue and low energySwelling due to kidney problemsDevelopmental delaysAnemia or low blood counts
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 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome.
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Specialists
View all specialists →No specialists are currently listed for Hyperuricemia-pulmonary hypertension-renal failure-alkalosis 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 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis 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.How severe is my child's kidney disease right now, and how fast is it expected to progress?,What is the current status of my child's pulmonary hypertension, and what treatments are available?,Are there dietary changes we should make to protect kidney function?,How often should blood tests and imaging be done to monitor the disease?,At what point might dialysis or kidney transplant be needed?,Are there any clinical trials or experimental treatments we should know about?,Should other family members be tested for this genetic condition?
Common questions about Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
What is Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome?
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome (sometimes called HUPRA syndrome) is an extremely rare inherited metabolic condition that affects multiple body systems. The disease is caused by a problem in how the body processes certain building blocks needed for making proteins. This leads to a combination of serious health issues including high levels of uric acid in the blood (hyperuricemia), high blood pressure in the lungs (pulmonary hypertension), progressive kidney failure, and a condition called metabolic alkalosis where the blood becomes too alkaline. This synd
How is Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome inherited?
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome typically begin?
Typical onset of Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome is infantile. Age of onset can vary across affected individuals.