Living with Tubulointerstitial kidney disease, autosomal dominant, 2
An inherited kidney condition (medullary cystic kidney disease type 1) that causes scarring and lowers kidney function, usually in adulthood.
Understanding Tubulointerstitial kidney disease, autosomal dominant, 2
It causes scarring (fibrosis) and reduced kidney function, usually starting in adulthood. As kidney function declines, many people develop high blood pressure, and some have high uric acid in the blood, which can cause gout. Only about 40 percent of people have kidney cysts. Features vary even in the same family.
Signs & symptoms
GARD doesn't list a separate symptom list. The summary describes these features:
- Slowly reduced kidney function
- High blood pressure (hypertension)
- High uric acid in the blood (hyperuricemia)
- Gout in a small number of people
- Kidney cysts in about 40 percent of people
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 MUC1 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 American Association of Kidney Patients 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
This condition is caused by changes in the MUC1 gene. It is autosomal dominant, which means one changed copy of the gene can be enough to cause it.
Also known as: adtkd-muc1; adtkd2; autosomal dominant medullary cystic kidney disease without hyperuricemia; autosomal dominant tubulointerstitial kidney disease due to mutations in muc1; mckd1; medullary cystic kidney disease 1
Patient organizations
- American Association of Kidney PatientsTubulointerstitial kidney disease, autosomal dominant, 2 · United States
- Rare Kidney Disease FoundationTubulointerstitial kidney disease, autosomal dominant, 2 · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Tubulointerstitial kidney disease, autosomal dominant, 2.
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