Living with Graham-Boyle-Troxell syndrome
A rare condition reported in 3 patients, with noncancerous cysts in the kidney and lung that can show up as a belly mass.
Understanding Graham-Boyle-Troxell syndrome
It involves benign cysts in the kidney and lung that can appear as an abdominal mass. Related features include enlarged kidneys, abnormal kidney development, and a mesoblastic nephroma. GARD says there have been no further descriptions in the literature since 1987. It is noticed in infancy.
Signs & symptoms
Symptoms vary. GARD lists these among the most common:
- Cystic kidneys (multicystic kidney dysplasia)
- High blood pressure
- Scarring of the lungs
- Repeated breathing infections
- Breathing difficulty
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 cancer specialists, 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
- Cancer specialists (oncologists); 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
Changes in genes cause this condition. GARD does not name the gene or describe how it is inherited.
Also known as: cystic hamartoma of lung and kidney; graham boyle troxell 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 Graham-Boyle-Troxell syndrome.
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