Living with Autosomal recessive polycystic kidney disease
An inherited condition with kidney and liver cysts that often begins before birth.
Understanding Autosomal recessive polycystic kidney disease
Kidney cysts can lead to kidney failure. Other organs such as the liver, and the blood vessels in the brain and heart, can be affected. Severity varies. Signs often begin before birth, so it is called infantile PKD, but some people do not have symptoms until later in childhood or adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged kidneys with cysts
- High blood pressure
- Scarring of the liver (hepatic fibrosis)
- Poor kidney function
- Feeding difficulties and slowed growth
- Enlarged spleen
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 digestive system specialists, genetic specialists, kidney specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
PKD Foundation and Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: PKD Foundation, Resolve: The National Infertility Association
- 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 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 caused by changes in the PKHD1 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ar polycystic kidney disease; ar-pkd; arpkd; arpkd - autosomal recessive polycystic kidney disease; autosomal recessive infantile polycystic kidney disease; autosomal recessive polycystic kidney
Patient organizations
- PKD FoundationAutosomal recessive polycystic kidney disease · United States
- American Association of Kidney PatientsAutosomal recessive polycystic kidney disease · United States
- ARPKD/CHF AllianceAutosomal recessive polycystic kidney disease · United States
- PKD- Free AllianceAutosomal recessive polycystic kidney disease · United States
- Resolve: The National Infertility AssociationInfertility · 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 recessive polycystic kidney disease.
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