Living with Familial juvenile hyperuricemic nephropathy type 2
An inherited kidney disease (REN-related) with slowly worsening kidney function, usually noticed in childhood, plus anemia and gout.
Understanding Familial juvenile hyperuricemic nephropathy type 2
It causes slowly worsening kidney disease that is usually noticed in childhood. Kidneys filter less well over time, which can lead to kidney failure needing dialysis or a transplant. Children may have mild anemia that tends to improve in the teen years. Many people have high uric acid, and gout may start in their twenties.
Signs & symptoms
GARD doesn't list a symptom list for this condition. Its summary describes:
- Slowly worsening kidney disease
- Low blood pressure (sometimes)
- Mildly high potassium (hyperkalemia)
- Mild anemia in childhood
- High uric acid in the blood
- Gout (painful joint arthritis)
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 REN 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 Rare Kidney Disease 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 REN gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: adtkd-ren; adtkd4; autosomal dominant tubulointerstitial kidney disease due to mutations in ren; early-onset hyperuricemia, anemia, and progressive kidney failure; familial juvenile hyperuricemic nephropathy caused by mutation in ren; fjhn type 2
Patient organizations
- Rare Kidney Disease FoundationFamilial juvenile hyperuricemic nephropathy type 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 Familial juvenile hyperuricemic nephropathy type 2.
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