Overview
Kidney tubulopathy-dilated cardiomyopathy syndrome is a rare inherited condition that affects two major organs at the same time: the kidneys and the heart. The kidney problem is called a tubulopathy, which means the tiny tubes inside the kidneys that filter and reabsorb important minerals and nutrients do not work properly. This causes the body to lose substances it needs, such as salt, potassium, and other electrolytes, through the urine. The heart problem is called dilated cardiomyopathy, which means the heart muscle becomes weakened and the main pumping chamber stretches and enlarges, making it harder for the heart to pump blood effectively throughout the body. People with this syndrome may experience symptoms from both the kidney and heart problems at the same time or at different points in life. Kidney symptoms can include muscle weakness, fatigue, and abnormal levels of minerals in the blood. Heart symptoms can include shortness of breath, swelling in the legs, and an irregular or fast heartbeat. In some cases, the condition can be life-threatening if not managed carefully. Treatment focuses on managing symptoms from both organs. This may include medicines to support heart function, supplements to replace lost minerals, and close monitoring by a team of specialists. There is currently no cure, but early diagnosis and careful management can help improve quality of life and reduce complications.
Key symptoms:
Muscle weaknessExtreme tiredness or fatigueShortness of breathSwelling in the legs or anklesIrregular or fast heartbeat (palpitations)Low levels of potassium in the bloodLow levels of sodium or other minerals in the bloodPassing too much urine or very dilute urinePoor growth or failure to thrive in childrenDizziness or lightheadednessDifficulty exercising or doing physical activity
Clinical phenotype terms (20)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Kidney tubulopathy-dilated cardiomyopathy syndrome.
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Specialists
View all specialists →No specialists are currently listed for Kidney tubulopathy-dilated cardiomyopathy 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 Kidney tubulopathy-dilated cardiomyopathy 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
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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.Which gene is causing this condition in our family, and what does that mean for other family members?,How often do my kidneys and heart need to be monitored, and what tests will be done?,What warning signs should prompt me to go to the emergency room right away?,Are there any clinical trials or research studies I could participate in?,What dietary changes do I need to make, and should I see a dietitian?,What are the long-term risks for my heart and kidneys, and how can we slow down any progression?,Should other family members be tested for this condition?
Common questions about Kidney tubulopathy-dilated cardiomyopathy syndrome
What is Kidney tubulopathy-dilated cardiomyopathy syndrome?
Kidney tubulopathy-dilated cardiomyopathy syndrome is a rare inherited condition that affects two major organs at the same time: the kidneys and the heart. The kidney problem is called a tubulopathy, which means the tiny tubes inside the kidneys that filter and reabsorb important minerals and nutrients do not work properly. This causes the body to lose substances it needs, such as salt, potassium, and other electrolytes, through the urine. The heart problem is called dilated cardiomyopathy, which means the heart muscle becomes weakened and the main pumping chamber stretches and enlarges, makin
How is Kidney tubulopathy-dilated cardiomyopathy syndrome inherited?
Kidney tubulopathy-dilated cardiomyopathy syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.