Overview
Karyomegalic interstitial nephritis (KIN) is a very rare genetic kidney disease. The name comes from a key feature seen under the microscope: the cells in the kidneys and other organs have abnormally large nuclei (called karyomegaly). This disease mainly affects the kidneys, causing a type of chronic kidney inflammation known as tubulointerstitial nephritis. Over time, the kidneys slowly lose their ability to filter waste from the blood, leading to chronic kidney disease and eventually kidney failure. KIN is caused by mutations in the FAN1 gene, which plays an important role in DNA repair. Because this gene is active in many tissues, karyomegaly (enlarged cell nuclei) can also be found in other organs such as the brain, liver, and lungs. Some patients may develop recurrent lung infections or liver problems in addition to kidney disease. Symptoms often begin in young adulthood and may include protein or blood in the urine, high blood pressure, fatigue, and gradually worsening kidney function. There is currently no cure for karyomegalic interstitial nephritis. Treatment focuses on slowing the progression of kidney disease, managing blood pressure, and addressing complications. Many patients eventually require dialysis or kidney transplantation. Because the disease is so rare, awareness among doctors is limited, and diagnosis can be delayed.
Also known as:
Key symptoms:
Gradual loss of kidney functionProtein in the urineBlood in the urineHigh blood pressureFatigue and weaknessSwelling in the legs or anklesRecurrent lung or respiratory infectionsFrequent urinary tract infectionsReduced urine output over timeNausea or loss of appetite as kidney disease worsensAbnormally large cell nuclei found on biopsy
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Adult
Begins in adulthood (age 18 or older)
FDA & Trial Timeline
3 eventsCharitable Organisation Charitable Fund Superhumans (Co Cf Superhumans)
University of Oslo — NA
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Karyomegalic interstitial nephritis.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Karyomegalic interstitial nephritis at this time.
New trials open frequently. Follow this disease to get notified.
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
Travel Grants
No travel grants are currently matched to Karyomegalic interstitial nephritis.
Community
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Start the conversation →Latest news about Karyomegalic interstitial nephritis
Disease timeline:
New recruiting trial: Advanced Care Planning for the Severely Ill Home-dwelling Elderly
A new clinical trial is recruiting patients for Karyomegalic interstitial nephritis
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.What is my current level of kidney function, and how fast is it declining?,Are there steps I can take to slow down the progression of my kidney disease?,Should my family members be tested for FAN1 mutations?,When should I start planning for dialysis or kidney transplantation?,Are there any clinical trials or research studies I could participate in?,Should I be screened for lung or liver problems related to this condition?,What dietary changes should I make to protect my kidneys?
Common questions about Karyomegalic interstitial nephritis
What is Karyomegalic interstitial nephritis?
Karyomegalic interstitial nephritis (KIN) is a very rare genetic kidney disease. The name comes from a key feature seen under the microscope: the cells in the kidneys and other organs have abnormally large nuclei (called karyomegaly). This disease mainly affects the kidneys, causing a type of chronic kidney inflammation known as tubulointerstitial nephritis. Over time, the kidneys slowly lose their ability to filter waste from the blood, leading to chronic kidney disease and eventually kidney failure. KIN is caused by mutations in the FAN1 gene, which plays an important role in DNA repair. Be
How is Karyomegalic interstitial nephritis inherited?
Karyomegalic interstitial nephritis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Karyomegalic interstitial nephritis typically begin?
Typical onset of Karyomegalic interstitial nephritis is adult. Age of onset can vary across affected individuals.
Which specialists treat Karyomegalic interstitial nephritis?
16 specialists and care centers treating Karyomegalic interstitial nephritis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.