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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?
Katherine Dell
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 in Cleveland, Ohio. Dr. Dell has been practicing medicine for over 39 years and is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. Her top areas of expertise are Autosomal Recessive Polycystic Kidney Disease, Nephrotic Syndrome, Focal Segmental Glomerulosclerosis, and Minimal Change Disease.

Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology | Pediatrics
Elite in Autosomal Recessive Polycystic Kidney Disease
Pediatric Nephrology | Pediatrics
3401 Civic Center Blvd, Children's Hospital Of Philadelphia - General Peds, 
Philadelphia, PA 
Languages Spoken:
English

Erum Hartung is a Pediatric Nephrologist and a Pediatrics provider in Philadelphia, Pennsylvania. Dr. Hartung is rated as an Elite provider by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. Her top areas of expertise are Autosomal Recessive Polycystic Kidney Disease, Potter Syndrome, Posterior Urethral Valves, Nephrotic Syndrome, 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 in Koeln, Germany. Mr. Liebau is rated as an Elite expert by MediFind in the treatment of Autosomal Recessive Polycystic Kidney Disease. His top areas of expertise are 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?
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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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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center