Living with Nephronophthisis
An inherited kidney condition with scarring and cysts that slowly reduce kidney function, and sometimes affects the eyes or other organs.
Understanding Nephronophthisis
People make more urine than usual, are very thirsty, and have weakness and tiredness. Fluid-filled cysts form in the kidneys. Anemia is common. It can lead to end-stage kidney disease at different ages: around age 1 (infantile), 13 (juvenile), or 19 (adolescent). About 85 percent of cases occur without other signs. It can also occur as part of syndromes, such as Senior-Løken syndrome (with eye problems) and Joubert syndrome.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Reduced kidney function
- Anemia (low red blood cells)
- Increased urine (polyuria)
- Extreme thirst (polydipsia)
- Weakness and tiredness
- Changes in the retina (in some syndromes)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
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
GARD says changes in genes cause this condition. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: autosomal recessive medullary cystic disease; juvenile nephronophthisis; medullary cystic disease; medullary cystic kidney; nephronophthisis (disease)
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 Nephronophthisis.
Explore research for Nephronophthisis
Explore actively recruiting Nephronophthisis studies with HealthSpark.
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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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