Living with Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
A rare genetic syndrome that combines severe kidney cysts with features of tuberous sclerosis.
Understanding Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
It involves early-onset and severe kidney cysts (polycystic kidney disease). It also has features of tuberous sclerosis, such as non-cancerous kidney growths (angiomyolipomas), a lung condition (lymphangioleiomyomatosis), and calcium spots in the brain. Age of onset varies.
Signs & symptoms
GARD describes these main features:
- Many cysts in the kidneys, starting early
- Non-cancerous kidney growths (angiomyolipomas)
- Lung condition (lymphangioleiomyomatosis)
- Calcium spots near the brain's fluid spaces
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 PKD- Free Alliance 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 a contiguous gene syndrome, which means a piece of chromosome 16 containing more than one gene is missing. It is autosomal dominant.
Also known as: chromosome 16p13.3 deletion syndrome, distal; pkdts; polycystic kidney disease, infantile severe, with tuberous sclerosis; tsc2/pkd1 contiguous gene syndrome; tuberous sclerosis, polycystic kidney disease contiguous gene syndrome; tuberous sclerosis/polycystic kidney disease contiguous gene syndrome
Patient organizations
- PKD- Free AllianceAutosomal dominant polycystic kidney disease type 1 with tuberous sclerosis · United States
- Chromosome Disorder OutreachChromosome disorders · 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 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis.
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