Autosomal Recessive Polycystic Kidney Disease
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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?
Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Katherine M. Dell
Pediatric Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Katherine M. Dell
Pediatric Nephrology
Referral may be required

Cleveland Clinic Children's Outpatient Center

8950 Euclid Avenue, 
Cleveland, OH 
216-444-8950
Languages Spoken:
English
See accepted insurances
Accepting New Patients

Katherine Dell is a Pediatric Nephrologist practicing medicine in Cleveland, Ohio. 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. Dr. Dell is currently accepting new patients.

Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Erum A. Hartung
Pediatric Nephrology
Elite in Autosomal Recessive Polycystic Kidney Disease
Dr. Erum A. Hartung
Pediatric Nephrology
Referral may be required

Office

3401 Civic Center Blvd, 
Philadelphia, PA 
215-590-2449
Languages Spoken:
English
See accepted insurances

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 3 other conditions, according to our data. Her clinical expertise encompasses 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
Referral may be required
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.

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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 18 Years 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 18 Years of Age With Autosomal Recessive Polycystic Kidney Disease (ARPKD)
Who is this study for: Patients with Autosomal Recessive Polycystic Kidney (ARPKD)
Enrollment Status: Recruiting
Publish Date: August 07, 2026
Intervention Type: Drug
Study Drug: Tolvaptan 
Study Phase: Phase 3

Summary: To evaluate the pharmacodynamics and safety of tolvaptan in pediatric subjects with ARPKD

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Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource (ARPKD Database Study)
Enrollment Status: Recruiting
Publish Date: June 15, 2026

Summary: Hepato-renal fibrocystic diseases (HRFD) is a term developed that encompasses rare diseases such as Autosomal Recessive Polycystic Kidney Disease (ARPKD), and other diseases with common features (Joubert syndrome, Bardet Biedl syndrome, Meckel-Gruber syndrome, congenital hepatic fibrosis (CHF), Caroli syndrome (CS), polycystic liver disease, oro-facial-digital syndrome, nephronophithisis (NPHP), a...

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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