Living with Familial juvenile hyperuricemic nephropathy type 1
An inherited kidney disease (ADTKD-UMOD) with slow loss of kidney function and gout, often starting in the teen or young adult years.
Understanding Familial juvenile hyperuricemic nephropathy type 1
Signs often begin in the teen years or early adulthood. Over time the kidneys filter less well and can eventually fail, needing dialysis or a kidney transplant. High uric acid in the blood is common. About half of people develop gout, a painful joint condition, often in late adolescence or early adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic kidney disease
- Gout (sudden severe joint pain and redness)
- High blood pressure
- Passing more urine than usual (polyuria)
- Kidney cysts
- Small kidneys
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 UMOD 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
Changes in the UMOD gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: adtkd-umod; adtkd1; autosomal dominant medullary cystic kidney disease type 2; autosomal dominant medullary cystic kidney disease with hyperuricemia; autosomal dominant tubulo-interstitial kidney disease; autosomal dominant tubulointerstitial kidney disease - umod
Patient organizations
- American Association of Kidney PatientsFamilial juvenile hyperuricemic nephropathy type 1 · United States
- Rare Kidney Disease FoundationFamilial juvenile hyperuricemic nephropathy type 1 · 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 Familial juvenile hyperuricemic nephropathy type 1.
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