Living with Karyomegalic interstitial nephritis
An inherited kidney condition in adults, with scarring and cysts in the kidney tissue, caused by changes in the FAN1 gene.
Understanding Karyomegalic interstitial nephritis
It involves inflammation and scarring (fibrosis) of the tissue between the kidney tubes, and may include cysts. It usually starts in adulthood.
Signs & symptoms
GARD lists these among the most common features:
- Kidney tubule and tissue inflammation (tubulointerstitial nephritis)
- Scarring in kidney tissue (fibrosis)
- Cysts in the kidney tubes
- Nephronophthisis (a kidney cyst disease)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in FAN1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the FAN1 gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: fan1 interstitial nephritis; interstitial nephritis caused by mutation in fan1; kin; kin - karyomegalic interstitial nephritis; kmin; systemic karyomegaly
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Karyomegalic interstitial nephritis.
Explore research for Karyomegalic interstitial nephritis
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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