What is ARPKD/CHF?
A clear, plain-language overview written for families — not for doctors. We'll walk through it together.
A brief overview
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that affects approximately 1 in 6,000 to 1 in 40,000 people. It is a chronic, progressive disease that affects the kidneys and causes liver abnormalities that include fibrosis — hence the term Congenital Hepatic Fibrosis (CHF). ARPKD/CHF is neither contagious nor does it affect intelligence. The onset of symptoms ranges from birth to adolescence, and roughly 50% of cases are diagnosed prenatally. There is no cure, but with good medical management there is real potential for an excellent quality of life.
What causes it
Abnormalities in a single gene — PKHD1 — appear to cause more than 99% of ARPKD/CHF cases. Because it is a recessive condition, a child must inherit one copy of the changed gene from each parent. Parents who are “carriers” have no symptoms themselves. When both parents are carriers, there is a 25% chance with each pregnancy that a child will be affected. Typically there is no prior family history of the disease.
ARPKD — the kidneys
In ARPKD, the kidney collecting tubules become dilated and later cystic. Kidneys can be significantly enlarged, usually peaking in size at 1 to 2 years of age and stabilizing by 4 to 5 years. Children may produce large amounts of dilute urine, leading to increased thirst and a need to stay well-hydrated. High blood pressure is common — occurring in up to 80% of children — and controlling it is one of the most important parts of care. About a third of children need dialysis or a kidney transplant by age 10, though kidney function declines at very different rates and some people do not reach kidney failure until adulthood.
CHF — the liver
If a person has ARPKD, they always have some degree of Congenital Hepatic Fibrosis (CHF), although its severity varies widely. CHF involves a malformation of the bile ducts (ductal plate malformation) and scarring (fibrosis) of the liver's portal tracts. This can lead to portal hypertension — increased pressure in the portal vein — which is different from the blood pressure measured with a cuff. Importantly, the liver usually continues to function normally even when fibrosis is present. Liver failure and transplantation are not common, though severe involvement sometimes requires treatment. A related condition, Caroli syndrome, involves cystic dilation of the bile ducts and can occur in people with ARPKD/CHF — see the resources below to learn more.
How it's diagnosed
ARPKD is often first seen on fetal ultrasound as large, “bright” (echogenic) kidneys, sometimes with low amniotic fluid. It may not be visible until the third trimester or after birth. Diagnosis should be distinguished from other cystic kidney conditions such as ADPKD. Prenatal genetic testing is available for families who have already had one confirmed ARPKD birth.
Reasons for hope
The outlook — especially for those who survive the newborn period — is far less bleak than once thought. The 5-year survival rate is 80 to 95% for those who survive the first four weeks of life. With improved treatment of kidney failure, better control of blood pressure, and advances in transplantation, people with ARPKD/CHF are now living well into adulthood.
Learn more — in-depth resources
For families and clinicians who want the full clinical detail.
- What is ARPKD/CHF? (PDF)Includes Clinical Care Considerations, but is not a substitute for medical care — the place to get specific medical information and treatment is your specialist.
- NIH Research Results — Clinical Investigations into ARPKD and CHFOur landmark NIH study and its published research papers.
- Polycystic Kidney Disease, Autosomal Recessive — GeneReviews (PDF)One of the best comprehensive clinical references on ARPKD/CHF.
- GeneReviews: ARPKD — read the latest version at NCBIThe actively maintained online chapter (NCBI Bookshelf).
- Caroli Syndrome — overview (NIH GARD)A related condition involving cystic dilation of the bile ducts.
- Kidney and Liver Transplantation in Children with Fibrocystic Liver–Kidney Disease (US Transplant Registry, 1990–2010)Peer-reviewed research.
- Occurrence of Portal Hypertension and Its Clinical Course in Molecularly Confirmed ARPKDPeer-reviewed research.
- Autosomal Recessive Polycystic Kidney Disease: A Hepatorenal Fibrocystic Disorder With Pleiotropic EffectsPeer-reviewed research.
- Pathophysiology of Childhood Polycystic Kidney Diseases: New Insights into Disease-Specific TherapyPeer-reviewed research.
- Clinical Courses and Complications of Young Adults with Autosomal Recessive Polycystic Kidney Disease (ARPKD)Peer-reviewed research.
- Early Childhood Height-Adjusted Total Kidney Volume as a Risk Marker of Kidney Survival in ARPKDPeer-reviewed research.
- Kidney Versus Combined Kidney and Liver Transplantation in Young People with ARPKD (ESPN/ERA-EDTA Registry)Peer-reviewed research.
- Ultrasound Elastography to Quantify Liver Disease Severity in ARPKDPeer-reviewed research.
- Magnetic Resonance Elastography to Quantify Liver Disease Severity in ARPKDPeer-reviewed research.
- Congenital Hepatic Fibrosis Overview (retired GeneReviews chapter)Full text preserved here for historical reference.
- CHF: Diagnosis & Management of Hepatobiliary Complications (PDF)Wen et al.
- Liver Meeting 2020 — Non-cirrhotic Portal Hypertension, Part 1
- Liver Meeting 2020 — Non-cirrhotic Portal Hypertension, Part 2
- Consensus Expert Recommendations for the Diagnosis and Management of ARPKD: Report of an International ConferencePeer-reviewed research.
- Polycystic Kidney Disease in Children: The Current Status and the Next HorizonIncludes both ADPKD and ARPKD information.
Looking for more? Search PubMed for additional ARPKD and CHF research — pubmed.ncbi.nlm.nih.gov.