Living with Senior-Boichis syndrome
A rare inherited condition that affects the kidneys and liver, with kidney scarring and liver fibrosis.
Understanding Senior-Boichis syndrome
The kidneys can have long-term damage with extra urine, thirst, and anemia. The liver can enlarge, scar, and have fewer bile ducts. Some people have mild developmental delay or eye differences. It can occur at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Long-term kidney disease
- Enlarged liver and spleen
- Liver scarring (hepatic fibrosis)
- Extreme thirst and extra urine
- High blood pressure
- Slowed bile flow (cholestasis)
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
It is autosomal recessive, so a child inherits a changed copy of a gene from each parent. GARD does not name a gene.
Also known as: boichis disease; boichis syndrome; nephronophthisis hepatic fibrosis syndrome; nephronophthisis-hepatic fibrosis syndrome
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 Senior-Boichis syndrome.
Explore research for Senior-Boichis syndrome
Explore actively recruiting Senior-Boichis syndrome studies with HealthSpark.
Find actively recruiting studies for Senior-Boichis syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- 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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