Autosomal Recessive Polycystic Kidney Disease: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Autosomal Recessive Polycystic Kidney Disease?
A nephrologist, a kidney specialist, is the main doctor who treats ARPKD. Children are often cared for by a pediatric nephrologist. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Autosomal recessive polycystic kidney disease, often called ARPKD, is a rare condition that a person is born with. Many small fluid-filled sacs called cysts grow in the kidneys, and the condition can also affect the liver.
Symptoms
In babies, signs often show up before or soon after birth, with enlarged kidneys and trouble breathing. Older patients may have pain in the back or side, high blood pressure, urinary tract infections, and blood in the urine.
Causes and who gets it
ARPKD is caused by a change, called a mutation, in a gene named PKHD1. A person gets ARPKD only when they inherit one changed copy of this gene from each parent. ARPKD affects about one in every 20,000 babies born.
How doctors diagnose it
Doctors often find ARPKD before birth using ultrasound. After birth, an ultrasound or an MRI can show cysts in the kidneys, and genetic testing can confirm the diagnosis.
Treatment
There is no cure for ARPKD, but treatment can help manage the problems it causes. If the kidneys stop working well enough, options include dialysis or a kidney transplant.
When to see a doctor
A baby with breathing problems, poor feeding, or a swollen belly should get medical care right away. Anyone with ongoing pain, blood in the urine, or high blood pressure should see a doctor.
Common questions
Can ARPKD be prevented?
No, ARPKD cannot be prevented because it is inherited from parents' genes. Families who already have one child with the disease can meet with a genetic counselor. A genetic counselor is trained to explain inherited conditions. A counselor can talk through the chances of it happening in another pregnancy.
How is ARPKD different from the more common type of polycystic kidney disease?
The common type, called autosomal dominant polycystic kidney disease, usually appears in adulthood. It needs only one changed gene copy from one parent. ARPKD needs two changed copies, one from each parent, and often shows up at birth or in infancy. The two conditions involve different genes.
Can people with ARPKD live normal lives?
Many people with milder forms of ARPKD do well with regular medical care. The disease is more serious when it appears at birth. Outcomes vary from person to person, so regular follow-up with a kidney specialist matters.
Should family members get tested?
Parents of a child with ARPKD are usually carriers. Each brother or sister has a one in four chance of having the disease. Genetic testing can give clear answers. A genetic counselor can help families decide if testing makes sense for them.
How does a direct primary care or concierge doctor fit in?
A direct primary care doctor is paid a flat monthly fee instead of billing insurance for visits. A concierge doctor usually charges more and often works alongside insurance. Either type can handle everyday parts of ARPKD care. This includes blood pressure checks, ordering lab tests, managing routine prescriptions, and coordinating care between specialists. When kidney function declines or complications appear, these doctors refer patients to a nephrologist or other specialists. For many families, having a primary doctor with more time and easier access makes managing a long-term condition simpler.
Sources
- MedlinePlus Genetics - Polycystic kidney disease
- NIH Genetic and Rare Diseases Information Center - Autosomal recessive polycystic kidney disease
- National Kidney Foundation - Polycystic kidney disease (PKD)
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
