Early nephrectomy in neonates with symptomatic autosomal recessive polycystic kidney disease.
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric surgery"
DOI: 10.1016/j.jpedsurg.2020.03.023
Abstract: INTRODUCTION Autosomal recessive polycystic kidney disease (ARPKD) is a rare cause of renal failure with a highly variable clinical course. Patients who are symptomatic early in life frequently require early nephrectomy and peritoneal dialysis. In… read more here.
Keywords: recessive polycystic; disease; nephrectomy; autosomal recessive ... See more keywords
A novel model of autosomal recessive polycystic kidney questions the role of the fibrocystin C-terminus in disease mechanism.
Sign Up to like & getrecommendations! Published in 2017 at "Kidney international"
DOI: 10.1016/j.kint.2017.04.027
Abstract: Autosomal recessive polycystic kidney disease (OMIM 263200) is a serious condition of the kidney and liver caused by mutations in a single gene, PKHD1. This gene encodes fibrocystin/polyductin (FPC, PD1), a large protein shown by in vitro… read more here.
Keywords: recessive polycystic; model; polycystic kidney; autosomal recessive ... See more keywords
Generation of an induced pluripotent stem cell line (DHMCi007-A) from a patient with autosomal recessive polycystic kidney disease (ARPKD) carrying a homozygous missense mutation in the fibrocystin-encoding PKHD1 gene.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102573
Abstract: Autosomal recessive polycystic kidney disease (ARPKD) is a severe pediatric kidney disorder primarily caused by mutations in the fibrocystin-encoding PKHD1 gene. It is characterized by the progressive development of cysts, eventually leading to renal failure.… read more here.
Keywords: kidney; recessive polycystic; kidney disease; polycystic kidney ... See more keywords
Fatal outcome of autosomal recessive polycystic kidney disease in neonates with recessive PKHD1 mutations
Sign Up to like & getrecommendations! Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000020113
Abstract: Abstract Autosomal recessive polycystic kidney disease (ARPKD) is the most common inherited childhood-onset renal disease, with underlying ciliopathy, and varies widely in clinical severity. The aim of this study was to describe the most severe… read more here.
Keywords: autosomal recessive; disease; recessive polycystic; kidney disease ... See more keywords
Autosomal Recessive Polycystic Kidney Disease
Sign Up to like & getrecommendations! Published in 2017 at "Academic Pathology"
DOI: 10.1177/2374289517718560
Abstract: The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms… read more here.
Keywords: medicine; recessive polycystic; pathology; polycystic kidney ... See more keywords