What is autosomal recessive polycystic kidney disease?
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder that affects the kidneys and other organs.
What is the difference between autosomal dominant polycystic kidney disease and autosomal recessive polycystic kidney disease?
Autosomal dominant polycystic kidney disease (ADPKD) is inherited in a dominant manner, while autosomal recessive polycystic kidney disease (ARPKD) is inherited in a recessive manner.
What are the symptoms of autosomal recessive polycystic kidney disease?
Symptoms of ARPKD include enlarged kidneys, high blood pressure, liver fibrosis, respiratory problems, and feeding difficulties in infants.
What is the chromosome affected by autosomal recessive polycystic kidney disease?
ARPKD is caused by mutations in the PKHD1 gene located on chromosome 6.
Is there a treatment for autosomal recessive polycystic kidney disease?
There is no cure for ARPKD, but treatment focuses on managing the symptoms and complications of the disease.
What is the life expectancy for someone with autosomal recessive polycystic kidney disease?
The life expectancy for someone with ARPKD varies depending on the severity of the disease and the age of onset, but it is generally shortened.
Can someone be a carrier of autosomal recessive polycystic kidney disease?
Yes, someone can be a carrier of ARPKD if they have one normal copy and one mutated copy of the PKHD1 gene.
How is autosomal recessive polycystic kidney disease diagnosed?
ARPKD is diagnosed through imaging tests such as ultrasound, CT scan, or MRI, as well as genetic testing.
Can autosomal recessive polycystic kidney disease be detected during fetal ultrasound?
Yes, ARPKD can be detected during fetal ultrasound as early as 14-16 weeks gestation.
What is the best treatment for high blood pressure in someone with autosomal recessive polycystic kidney disease?
The best treatment for high blood pressure in someone with ARPKD is usually medication such as ACE inhibitors or angiotensin receptor blockers.
Is liver fibrosis a common symptom of autosomal recessive polycystic kidney disease?
Yes, liver fibrosis is a common symptom of ARPKD, occurring in up to 80% of cases.
Can autosomal recessive polycystic kidney disease cause respiratory problems?
Yes, ARPKD can cause respiratory problems due to the pressure of enlarged kidneys on the lungs.
Can autosomal recessive polycystic kidney disease be cured with a kidney transplant?
Kidney transplantation can improve the quality of life for someone with ARPKD, but it does not cure the disease as it can affect other organs as well.
Is autosomal recessive polycystic kidney disease more common in males or females?
ARPKD affects males and females equally.
How is autosomal recessive polycystic kidney disease treated in infants?
Infants with ARPKD may need feeding tubes, oxygen therapy, or a combination of medications to manage their symptoms.
What is the ICD-10 code for autosomal recessive polycystic kidney disease?
The ICD-10 code for ARPKD is Q61.3.
Is autosomal recessive polycystic kidney disease a common genetic disorder?
ARPKD is a rare genetic disorder, affecting approximately 1 in 20,000 live births.
Does autosomal recessive polycystic kidney disease only affect the kidneys?
No, ARPKD can affect other organs such as the liver, pancreas, and lungs.
Is there a cure for autosomal dominant polycystic kidney disease?
There is no cure for ADPKD, but treatment focuses on managing the symptoms and complications of the disease.
Can autosomal recessive polycystic kidney disease be prevented?
There is no known way to prevent ARPKD, as it is a genetic disorder.
What is the difference between autosomal recessive polycystic kidney disease in infants and adults?
ARPKD in infants is usually more severe and affects multiple organs, while ARPKD in adults may only affect the kidneys.
Is autosomal recessive polycystic kidney disease a progressive disease?
Yes, ARPKD is a progressive disease, meaning that it worsens over time.
What is the likelihood of passing autosomal recessive polycystic kidney disease to a child if both parents are carriers?
If both parents are carriers of ARPKD, each child has a 25% chance of inheriting two mutated copies of the PKHD1 gene and developing the disease.
Can autosomal recessive polycystic kidney disease be treated with surgery?
Surgery may be an option for some complications of ARPKD, such as liver cysts or hernias.
What is the function of the PKHD1 gene affected by autosomal recessive polycystic kidney disease?
The PKHD1 gene provides instructions for making a protein called fibrocystin, which is involved in the development and function of the kidneys and other organs.
What are some genetic tests used to diagnose autosomal recessive polycystic kidney disease?
Genetic tests used to diagnose ARPKD include DNA sequencing, deletion/duplication analysis, and linkage analysis.
Can autosomal recessive polycystic kidney disease be mistaken for autosomal dominant polycystic kidney disease?
In some cases, ARPKD may be mistaken for ADPKD on imaging tests due to the presence of multiple cysts, but genetic testing can differentiate between the two disorders.
How does autosomal recessive polycystic kidney disease affect kidney function?
ARPKD can cause kidneys to enlarge and develop numerous cysts, which can impair kidney function and potentially lead to kidney failure.
Is there a specific diet recommended for someone with autosomal recessive polycystic kidney disease?
There is no specific diet recommended for ARPKD, but a low sodium diet may be helpful in managing high blood pressure.
What are the radiological findings associated with autosomal recessive polycystic kidney disease?
Radiological findings associated with ARPKD include enlarged kidneys with multiple cysts of varying size and shape, and dilated intrahepatic bile ducts.
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