Results 41 to 50 of about 2,905 (217)

A human multi-lineage hepatic organoid model for liver fibrosis

Nature Communications, 2021
Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder which is associated with kidney and liver pathology, including liver fibrosis.
Yuan Guan, Annika Enejder, Meiyue Wang, Zhuoqing Fang, Lu Cui, Shih-Yu Chen, Jingxiao Wang, Yalun Tan, Manhong Wu, Xinyu Chen, Patrik K. Johansson, Issra Osman, Koshi Kunimoto, Pierre Russo, Sarah C. Heilshorn, Gary Peltz   +15 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

409 The Impact of ARPKD on Children and Families: An Externally-Led Patient-Focused Drug Development Meeting

American Journal of Kidney Diseases

openalex   +2 more sources

Prenatal Recurrence of Ductal Plate Malformations Leads to PKHD1 Variant Reclassification. [PDF]

Prenat Diagn
ABSTRACT Ductal plate malformations (DPM) encompass a spectrum of congenital liver disorders characterized by abnormal bile duct development, often associated with conditions such as Caroli disease. Variants in the PKHD1 gene cause a wide spectrum of DPM, but genotype–phenotype correlations remain challenging.
Abaji M, Nasca L, Audrezet MP, Gerard B, Vanhoye X, Chau C, D'Ercole C, Levy-Mozziconacci A.   +7 more
europepmc   +2 more sources

Ameliorating liver disease in an autosomal recessive polycystic kidney disease (ARPKD) mouse model.

American Journal of Physiology - Gastrointestinal and Liver Physiology, 2023
Systemic and portal hypertension, liver fibrosis, and hepatomegaly are manifestations associated with autosomal recessive polycystic kidney disease (ARPKD), which is caused by malfunctions of fibrocystin/polyductin.
M. Yanda, Adi Zeidan, L. Cebotaru
semanticscholar   +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

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

Cystin is required for maintaining fibrocystin (FPC) levels and safeguarding proteome integrity in mouse renal epithelial cells A mechanistic connection between the kidney defects in cpk mice and human ARPKD

bioRxiv, 2023
Autosomal recessive polycystic kidney disease (ARPKD) is caused primarily by mutations in PKHD1, encoding fibrocystin (FPC), but Pkhd1 mutant mice fail to express renal cystic disease.
Yiming J. Zhang, Chaozhe Yang, Wei Wang, N. Harafuji, Piotr Stasiak, P. D. Bell, Ljuba Caldovic, Elizabeth Sztul, L. M. Guay-Woodford, Zsuzsanna Bebok   +9 more
semanticscholar   +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