Rare Nephrology News

Disease Profile

Autosomal recessive polycystic kidney disease

Prevalence
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

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

ARPKD; Polycystic kidney disease, infantile type

Categories

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

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]

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
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

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

    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 tubesGrowth 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]

    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

      Organizations Providing General Support

        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

          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

            1. 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.
            2. Polycystic Kidney Disease. NKUDIC. November 2007; https://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#recessive. Accessed 4/24/2011.
            3. Polycystic kidney disease. Genetics Home Reference (GHR). May 2014; https://ghr.nlm.nih.gov/condition/polycystic-kidney-disease. Accessed 10/5/2015.
            4. 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.
            5. 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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