Autosomal Recessive Polycystic Kidney Disease Overview

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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
Dr. Katherine Dell
Pediatric Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Katherine Dell
Pediatric Nephrology

Cleveland Clinic Children's Outpatient Center

8950 Euclid Avenue, 
Cleveland, OH 
216-444-8950
Experience:
38+ years
Languages Spoken:
English
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Katherine Dell is a Pediatric Nephrologist in Cleveland, Ohio. Dr. Dell has been practicing medicine for over 38 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
Dr. Erum A. Hartung
Pediatric Nephrology | Pediatrics | Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Erum A. Hartung
Pediatric Nephrology | Pediatrics | Nephrology

Childrens Health Care Associates Inc

3401 Civic Ctr Blvd, 
Philadelphia, PA 
215-590-1000
Languages Spoken:
English
See accepted insurances

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, Polycystic Kidney Disease, Potter Syndrome, Autosomal Dominant Polycystic Kidney Disease, and Kidney Transplant.

 
 
 
 
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Elite in Autosomal Recessive Polycystic Kidney Disease
Max C. Liebau
Elite in Autosomal Recessive Polycystic Kidney Disease
Max C. Liebau
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.

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What are the latest Autosomal Recessive Polycystic Kidney Disease Clinical Trials?
A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 12 Weeks of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 Days to Less Than 12 Weeks of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Who is this study for: Patients with Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Enrollment Status: Recruiting
Publish Date: October 09, 2025
Intervention Type: Drug
Study Drug: Tolvaptan (OPC-41061)
Study Phase: Phase 3

Summary: The primary objective of this study is to evaluate the effect of tolvaptan on the need for renal replacement therapy in pediatric subjects with autosomal recessive polycystic kidney disease (ARPKD)

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Imaging Assessments of ARPKD Kidney Disease Progression
Imaging Assessments of ARPKD Kidney Disease Progression
Enrollment Status: Recruiting
Publish Date: October 01, 2025

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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Who are the sources who wrote this article ?

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