Autosomal Recessive Polycystic Kidney Disease
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Learn About Autosomal Recessive Polycystic Kidney Disease

What is the definition of Autosomal Recessive Polycystic Kidney Disease?
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. 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. The condition is caused by a genetic change in the PKHD1 gene and is inherited in an autosomal recessive manner.
What are the alternative names for Autosomal Recessive Polycystic Kidney Disease?
  • Autosomal recessive polycystic kidney disease
  • ARPKD
  • Polycystic kidney disease, infantile type
Who are the top Autosomal Recessive Polycystic Kidney Disease Local Doctors?
Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology

Cleveland Clinic Children's Outpatient Center

8950 Euclid Avenue, 
Cleveland, OH 
Experience:
39+ years
Languages Spoken:
English

Katherine Dell is a Pediatric Nephrologist practicing medicine in Cleveland, Ohio. She has been practicing medicine for over 39 years. Dr. Dell is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Polycystic Kidney Disease, Nephrotic Syndrome, Focal Segmental Glomerulosclerosis, and Minimal Change Disease. Dr. Dell is board certified in American Board Of Pediatrics, 1999.

Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology

Office

3401 Civic Center Blvd, 
Philadelphia, PA 
Languages Spoken:
English

Erum Hartung is a Pediatric Nephrologist practicing medicine in Philadelphia, Pennsylvania. Dr. Hartung is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. She is also highly rated in 6 other conditions, according to our data. Her clinical expertise encompasses Autosomal Recessive Polycystic Kidney Disease, Polycystic Kidney Disease, Potter Syndrome, Autosomal Dominant Polycystic Kidney Disease, and Kidney Transplant.

 
 
 
 
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Elite in Autosomal Recessive Polycystic Kidney Disease
Elite in Autosomal Recessive Polycystic Kidney Disease
Kerpener Str. 62, 
Koeln, NW, DE 

Max Liebau practices practicing medicine in Koeln, Germany. Mr. Liebau is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. He is also highly rated in 7 other conditions, according to our data. His clinical expertise encompasses Autosomal Recessive Polycystic Kidney Disease, Polycystic Kidney Disease, Autosomal Dominant Polycystic Kidney Disease, Kidney Transplant, and Nephrectomy.

What are the latest Autosomal Recessive Polycystic Kidney Disease Clinical Trials?
Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Summary: Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and ...

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Imaging Assessments of ARPKD Kidney Disease Progression

Summary: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a potentially lethal genetic disorder for which there are currently no disease specific treatments. Clinical trials have been limited by the absence of robust measures of disease progression. The overall goal of this 5 year NIH-funded prospective, observational multicenter study conducted at CC (primary site) and Children's Hospital of Phila...

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center