Results 21 to 30 of about 2,428 (197)

The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD) [PDF]

, 2023
A thesis submitted in partial fulfilment of the requirements of the University of Wolverhampton for the degree of Doctor of Philosophy.The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary ...
Richards, Taylor
core   +2 more sources

ARPKD With Shrinking Kidneys and Progressive Loss of Kidney Function. [PDF]

Kidney Int Rep
Arriola-Montenegro J, Mohan A, Gregory AV, Kline TL, Harris PC, Dahl NK.   +5 more
europepmc   +3 more sources

Atmin modulates PKHD1 expression and through altered non-canonical wnt/planar cell polarity (pcp) signalling mediates ARPKD severity [PDF]

, 2018
INTRODUCTION AND AIMS: ARPKD is a genetic disorder with an incidence of ~1:20,000 that can lead to perinatal mortality. In the ~60% of ARPKD patients who survive the neonatal period, there is a range of disease severity, however, little is known about ...
Norman, Jill, Taylor Richards, Jill Norman, Modarage, Kavindiya, Patricia Wilson, Dean, Charlotte, Wilson, Patricia, Goggolidou, Paraskevi, Paraskevi Goggolidou, Kavindiya Modarage, Richards, Taylor, Charlotte Dean   +11 more
core   +1 more source

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Frontiers in Pediatrics, 2020
Purpose: Liver involvement in autosomal recessive polycystic kidney disease (ARPKD) leads to the development of portal hypertension and its complications.
Dorota Wicher, Ryszard Grenda, Mikołaj Teisseyre, Marek Szymczak, Paulina Halat-Wolska, Dorota Jurkiewicz, Max Christoph Liebau, Elżbieta Ciara, Małgorzata Rydzanicz, Joanna Kosińska, Krystyna Chrzanowska, Irena Jankowska   +11 more
doaj   +1 more source

Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children

Frontiers in Molecular Biosciences, 2023
Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are the most widely known cystic kidney diseases. They are significantly different from each other in terms of genetics and clinical manifestations.
L. Lucchetti, M. Chinali, F. Emma, L. Massella   +3 more
doaj   +1 more source

Growth in children with autosomal recessive polycystic kidney disease in the CKiD cohort study

Frontiers in Pediatrics, 2016
Background: Previous studies have suggested that some children with autosomal recessive polycystic kidney disease (ARPKD) have growth impairment out of proportion to their degree of chronic kidney disease (CKD).
Erum Aftab Hartung, Erum Aftab Hartung, Katherine MacRae Dell, Katherine MacRae Dell, Matthew Matheson, Bradley A Warady, Susan Lynn Furth, Susan Lynn Furth   +7 more
doaj   +1 more source

Autosomal Recessive Polycystic Kidney Disease with Congenital Talipes Equinovarus - A Rare Autopsy Case Report

JK Science, 2023
ARPKD is a rare, infantile form of PCKD. It's a Ciliopathic disorder with multi-organ involvement. The pathognomonic features are predominately seen in the kidneys and liver.
Shobini Vishali VM, Neelayadakshi B, Dhanya Menon, Sudha Vasudeva   +3 more
doaj  

Transient Elastography for Detection of Liver Fibrosis in Children With Autosomal Recessive Polycystic Kidney Disease

Frontiers in Pediatrics, 2019
Introduction: Congenital hepatic fibrosis (CHF) is invariably present in all patients with autosomal recessive polycystic kidney disease (ARPKD) but is usually clinically asymptomatic.
Dorota Wicher, Irena Jankowska, Patryk Lipiński, Paulina Szymańska-Rożek, Jakub Kmiotek, Wojciech Jańczyk, Jacek Rubik, Krystyna Chrzanowska, Piotr Socha   +8 more
doaj   +1 more source

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

Frontiers in Pediatrics, 2017
This mini review provides an overview of the issues and challenges inherent in autosomal recessive polycystic kidney disease (ARPKD), with a particular focus on the neurological factors and neurocognitive functioning of this population.
Stephen R. Hooper
doaj   +1 more source

Ruptured intracranial aneurysm and recessive polycystic kidney Disease: A Rare Association

Saudi Journal of Kidney Diseases and Transplantation, 2019
Autosomal recessive polycystic kidney disease (ARPKD) is the most common childhood-onset ciliopathy. Intracranial aneurysms (ICA) are a serious complication of autosomal dominant polycystic kidney disease (ADPKD).
Imed Helal, Insaf Handous, Meriam Khadhar, Hamida Bezzine, Fethi Ben Hamida, Taib Ben Abdallah   +5 more
doaj   +1 more source