Overview
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited kidney conditions that slowly damage the tiny tubes and surrounding tissue inside the kidneys, called the tubulointerstitium. You may also hear it called medullary cystic kidney disease (MCKD), familial juvenile hyperuricemic nephropathy (FJHN), or uromodulin-associated kidney disease, depending on which gene is involved. Over time, this damage causes the kidneys to lose their ability to filter waste and balance fluids and salts in the body — a process called chronic kidney disease (CKD). The disease tends to progress slowly, often over many years or decades. Many people have few or no symptoms early on, which means it can go undetected for a long time. When symptoms do appear, they often include tiredness, increased thirst, needing to urinate frequently (especially at night), and high blood pressure. Some forms of the disease also cause gout — painful joint swelling caused by a buildup of uric acid — which can appear even in young people. Small cysts may form in the kidneys, though these are often too small to see on standard imaging. There is currently no cure for ADTKD. Treatment focuses on slowing kidney damage, managing symptoms like gout and high blood pressure, and preparing for kidney replacement therapy (dialysis or transplant) if the kidneys fail. With careful management, many people live full lives, though most will eventually need a kidney transplant. Early diagnosis and regular monitoring by a kidney specialist are very important.
Key symptoms:
Slowly worsening kidney function over yearsFatigue and low energyIncreased thirst and dry mouthNeeding to urinate more often, especially at nightHigh blood pressureGout (painful, swollen joints, especially in the big toe or ankles)Swelling in the legs or anklesPale or foamy urineNausea or loss of appetite as kidney disease advancesAnemia (low red blood cell count) causing tiredness and palenessSmall cysts in the kidneys (often found on imaging)
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
FDA & Trial Timeline
5 eventsEMD Serono Research & Development Institute, Inc. — PHASE1
PepsiCo Global R&D — NA
Hospices Civils de Lyon
National Taiwan University Hospital — NA
Imagine Institute — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
1 availableEpogen
Treatment of anemia due to Chronic Kidney Disease (CKD) in patients on dialysis and not on dialysis
Rare Disease Specialist
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
Financial Resources
1 resourcesTravel Grants
No travel grants are currently matched to Autosomal dominant tubulointerstitial kidney disease.
Community
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Start the conversation →Latest news about Autosomal dominant tubulointerstitial kidney disease
Disease timeline:
New recruiting trial: Research of Therapeutic Targets in the Frame of Nephronophthisis and Renal Associated Ciliopathies
A new clinical trial is recruiting patients for Autosomal dominant tubulointerstitial kidney disease
New recruiting trial: Effect of Flavored, Carbonated Drinks on Salivary Flow, Salivary Composition, and Taste Perceptions
A new clinical trial is recruiting patients for Autosomal dominant tubulointerstitial kidney disease
New recruiting trial: M0324 as Monotherapy and in Combination With Pembrolizumab or Chemotherapy in Participants With Selected Advanced Solid Tumors
A new clinical trial is recruiting patients for Autosomal dominant tubulointerstitial kidney disease
New trial: Study of Oral Uremic Toxin Absorbent and Probiotics to Retard the Progression of Chronic Kidney Dise
Phase NA trial recruiting. Active bamboo charcoal
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.Which gene is causing my ADTKD, and what does that mean for how fast my kidneys might decline?,Should my children or siblings be tested for this condition?,What can I do now to slow down the progression of my kidney disease?,When should I start thinking about a kidney transplant, and can a family member donate?,Are there any clinical trials or new treatments I should know about?,What diet and lifestyle changes will help protect my kidneys?,How often do I need blood and urine tests to monitor my kidney function?
Common questions about Autosomal dominant tubulointerstitial kidney disease
What is Autosomal dominant tubulointerstitial kidney disease?
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a group of inherited kidney conditions that slowly damage the tiny tubes and surrounding tissue inside the kidneys, called the tubulointerstitium. You may also hear it called medullary cystic kidney disease (MCKD), familial juvenile hyperuricemic nephropathy (FJHN), or uromodulin-associated kidney disease, depending on which gene is involved. Over time, this damage causes the kidneys to lose their ability to filter waste and balance fluids and salts in the body — a process called chronic kidney disease (CKD). The disease tends to
How is Autosomal dominant tubulointerstitial kidney disease inherited?
Autosomal dominant tubulointerstitial kidney disease follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
Are there clinical trials for Autosomal dominant tubulointerstitial kidney disease?
Yes — 2 recruiting clinical trials are currently listed for Autosomal dominant tubulointerstitial kidney disease on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Autosomal dominant tubulointerstitial kidney disease?
16 specialists and care centers treating Autosomal dominant tubulointerstitial kidney disease are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.
What treatment and support options exist for Autosomal dominant tubulointerstitial kidney disease?
1 patient support program are currently tracked on UniteRare for Autosomal dominant tubulointerstitial kidney disease. See the treatments and support programs sections for copay assistance, eligibility, and contact details.