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Disease Profile
Autosomal recessive polycystic kidney disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
All ages
ICD-10
Q61.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
ARPKD; Polycystic kidney disease, infantile type
Categories
Congenital and Genetic Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases
Summary
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.
Medical Terms | Other Names |
Learn More:
HPO ID
|
---|---|---|
80%-99% of people have these symptoms | ||
Enlarged kidney |
Large kidneys
|
0000105 |
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 | |
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 |
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 | |
Enlarged liver and spleen
|
0001433 | |
Hypoventilation |
Slow breathing
Under breathing
[ more ] |
0002791 |
Yellow skin
Yellowing of the skin
[ more ] |
0000952 | |
Neonatal death |
Neonatal lethal
|
0003811 |
Oliguria | 0100520 | |
Polydipsia |
Extreme thirst
|
0001959 |
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 |
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 |
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 | |
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 |
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
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).
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.
|
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: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://www.aakp.org -
American Kidney Fund (AKF)
11921 Rockville Pike
Suite 300
Rockville, MD 20852
Toll-free: 866-300-2900
E-mail: [email protected]
Website: https://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: [email protected]
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: [email protected]
Website: https://www.kidney.on.ca
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Autosomal recessive polycystic kidney disease. This website is maintained by the National Library of Medicine.
- 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.
References
- Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). November 2007; https://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 5/12/2008.
- Polycystic Kidney Disease. NKUDIC. November 2007; https://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#recessive. Accessed 4/24/2011.
- Polycystic kidney disease. Genetics Home Reference (GHR). May 2014; https://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; https://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. .
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