Autosomal recessive polycystic kidney disease

Title

Other Names:

ARPKD; Polycystic kidney disease, infantile type

Categories:

Congenital and Genetic Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases

Summary Summary

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person.^[1] The signs of ARPKD frequently begin before birth, so it is often called “infantile PKD” but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients.^[2] The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.^[1]

Last updated: 4/24/2011

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Enlarged kidney	Large kidneys	0000105
Hypertension		0000822
Periportal fibrosis		0001405
Polycystic kidney dysplasia		0000113
30%-79% of people have these symptoms
Abnormality of the intrahepatic bile duct		0011040
Biliary hyperplasia		0006560
Congenital hepatic fibrosis	Excessive buildup of connective tissue and scarring of liver at birth	0002612
Elevated gamma-glutamyltransferase level		0030948
Esophageal varix	Enlarged vein in esophagus	0002040
Fat malabsorption		0002630
Feeding difficulties	Feeding problems Poor feeding [ more ]	0011968
Growth delay	Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ]	0001510
Hypersplenism		0001971
Hyponatremia	Low blood sodium levels	0002902
Increased serum bile acid concentration		0012202
Low levels of vitamin A	Vitamin A deficiency	0004905
Low levels of vitamin D	Deficient in vitamin D Vitamin D deficiency [ more ]	0100512
Low levels of vitamin E	Vitamin E deficiency	0100513
Low levels of vitamin K		0011892
Oligohydramnios	Low levels of amniotic fluid	0001562
Portal hypertension		0001409
Pulmonary hypoplasia	Small lung Underdeveloped lung [ more ]	0002089
Reduced renal corticomedullary differentiation		0005565
Respiratory failure		0002878
Splenomegaly	Increased spleen size	0001744
Stage 5 chronic kidney disease		0003774
5%-29% of people have these symptoms
Acute kidney injury		0001919
Ascites	Accumulation of fluid in the abdomen	0001541
Cholangitis	Bile duct inflammation	0030151
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
Hepatoblastoma		0002884
Hepatosplenomegaly	Enlarged liver and spleen	0001433
Hypoventilation	Slow breathing Under breathing [ more ]	0002791
Jaundice	Yellow skin Yellowing of the skin [ more ]	0000952
Neonatal death	Neonatal lethal	0003811
Oliguria		0100520
Polydipsia	Extreme thirst	0001959
Protein-losing enteropathy		0002243
Recurrent pneumonia		0006532
Recurrent urinary tract infections	Frequent urinary tract infections Repeated bladder infections Repeated urinary tract infections Urinary tract infections Urinary tract infections, recurrent [ more ]	0000010
Thrombocytopenia	Low platelet count	0001873
1%-4% of people have these symptoms
Abnormality of limbs	Abnormal limbs	0040064
Cholangiocarcinoma	Bile duct cancer	0030153
Cognitive impairment	Abnormality of cognition Cognitive abnormality Cognitive defects Cognitive deficits Intellectual impairment Mental impairment [ more ]	0100543
Depressed nasal ridge	Flat nose Recessed nasal ridge [ more ]	0000457
Low-set ears	Low set ears Lowset ears [ more ]	0000369
Micrognathia	Little lower jaw Small jaw Small lower jaw [ more ]	0000347
Pancreatic cysts		0001737
Spontaneous pneumothorax	Spontaneous collapsed lung	0002108
Percent of people who have these symptoms is not available through HPO
Absence of renal corticomedullary differentiation		0005564
Autosomal recessive inheritance		0000007
Dehydration		0001944
Hepatic cysts	Liver cysts	0001407
Hepatomegaly	Enlarged liver	0002240
Potter facies		0002009
Renal cyst	Kidney cyst	0000107
Renal insufficiency	Renal failure Renal failure in adulthood [ more ]	0000083
Tubulointerstitial fibrosis		0005576

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 9/1/2020

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

Autosomal recessive polycystic kidney disease (ARPKD) is inherited in an autosomal recessive manner. This means that an affected individual has two gene alterations (mutations) in the PKHD1 gene, with one mutation inherited from each parent. Each parent, who has one altered copy of the gene, is referred to as a carrier. Carriers do not typically show signs and symptoms of the condition.^[3] When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. This means that with each pregnancy, there is a 75% (3 in 4) chance to have an unaffected child.^[4]

Last updated: 10/5/2015

Diagnosis Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Treatment Treatment

Although a cure or treatment for the underlying genetic cause of autosomal recessive polycystic kidney disease does not exist, advancements have been made in showing improvement of liver and kidney disease in mouse models of the condition by disrupting the function of certain cell receptors. ^[5]

Medical management is currently symptomatic and involves supportive care. Mechanical ventilation may be used to treat the underdevelopment of the lungs and breathing issues caused by the kidneys that are enlarged due to the numerous cysts. When the kidneys are severely enlarged, one or both kidneys may be removed (nephrectomy). Dialysis may be required during the first days of life if the infant is producing little urine (oliguria) or no urine (anuria). Low levels of sodium (hyponatremia) may occur and is treated with diuresis and/or sodium supplementation depending on the individual's specific levels. High blood pressure (hypertension) is treated with medication. Kidney failure requires dialysis, and kidney transplantation is another option. Poor eating and growth failure may be managed with gastrostomy tubes. Growth hormone therapy may be used to treat the growth failure and kidney insufficiency. Urinary tract infections are treated with antibiotics. Those with liver involvement may require shunt to treat the progressive high blood pressure and possibly liver transplantation.^[4]

Last updated: 6/8/2011

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Main differential diagnoses are other hereditary cystic kidney diseases including autosomal dominant polycystic kidney disease, HNF1ß-associated cystic nephropathies, diffuse cystic dysplasia and nephronophthisis, as well as rare metabolic diseases such as glutaric aciduria type II. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Autosomal recessive polycystic kidney disease. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
The Research Portfolio Online Reporting Tool (RePORT) provides access to reports, data, and analyses of research activities at the National Institutes of Health (NIH), including information on NIH expenditures and the results of NIH-supported research. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies, enter the disease name in the "Text Search" box. Then click "Submit Query".

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Autosomal recessive polycystic kidney disease. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Autosomal recessive polycystic kidney disease:
North American Pediatric Renal Trials and Collaborative Studies (NAPRTCS)
Autosomal Recessive Polycystic Kidney Disease (ARPKD) and Congenital Hepatic Fibrosis (CHF) patient registry

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

ARPKD/CHF Alliance
PO Box 70
Kirkwood, PA 17536
Toll-free: 800-708-8892
Telephone: 717-529-5555
E-mail: info@arpkdchf.org
Website: http://www.arpkdchf.org
PKD Foundation
1001 E. 101st Terrace, Suite 220
Kansas City, MO 64131
Telephone: +1-816-931-2600
TTY: 1-800-753-2873 (1.800.PKD.CURE)
Fax: +1-816-931-8655
E-mail: pkdcure@pkdcure.org
Website: https://pkdcure.org/

Organizations Providing General Support

American Association of Kidney Patients
3505 E. Frontage Rd., Suite 315
Tampa, FL 33607-1796
Toll-free: 800-749-2257
Telephone: 813-636-8100
Fax: 813-636-8122
E-mail: info@aakp.org
Website: http://www.aakp.org
American Kidney Fund, Inc.
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
Telephone: 301-881-3052
E-mail: helpline@kidneyfund.org
Website: http://www.kidneyfund.org
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
Toll-free: 800-622-9010
Telephone: 212-889-2210
Fax: 212-689-9261
E-mail: info@kidney.org
Website: https://www.kidney.org/
The Kidney Foundation of Canada
700-15 Gervais Drive
Toronto Ontario M3C 1Y8
Canada
Toll-free: 800-387-4474
Telephone: 416-445-0373
Fax: 416-445-7440
E-mail: kidney@kidney.on.ca
Website: http://www.kidney.on.ca

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

Genetics Home Reference (GHR) contains information on Autosomal recessive polycystic kidney disease. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
The National Digestive Diseases Information Clearinghouse (NIDDK) offers information on this condition. Click on the link to view information on this topic.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Autosomal recessive polycystic kidney disease. Click on the link to view a sample search on this topic.

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I have had three stillborns with autosomal recessive polycystic kidney disease. Is this disease curable? What are my options for future pregnancies? See answer

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References References

Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 5/12/2008.
Polycystic Kidney Disease. NKUDIC. November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#recessive. Accessed 4/24/2011.
Polycystic kidney disease. Genetics Home Reference (GHR). May 2014; http://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 10/5/2015.
Sweeney MS, Avner ED. Polycystic Kidney Disease, Autosomal Recessive. GeneReviews. March 6, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1326/. Accessed 10/5/2015.
Wang R, Moudgil A, Jordan SC. Chapter 67: Cystic Diseases of the Kidney. In: Rimoin DL, Connor JM, Pyeritz RE, Korf BR, eds. Emery and Rimoin's: Principles and Practices of Medical Genetics. Vol 2. 5th ed. Philadelphia, PA: Churchill Livingstone; 2007: 1486. .