Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease. [PDF]
Int J Mol Sci, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is a rare disorder and one of the most severe forms of polycystic kidney disease, leading to end-stage renal disease (ESRD) in childhood. PKHD1 is the gene that is responsible for the vast majority of ARPKD.
Cordido A +2 more
europepmc +6 more sources
An Empirical Biomarker-based Calculator for Autosomal Recessive Polycystic Kidney Disease - The Nieto-Narayan Formula [PDF]
, 2016 Autosomal polycystic kidney disease (ARPKD) is associated with progressive enlargement of the kidneys fuelled by the formation and expansion of fluid-filled cysts. The disease is congenital and children that do not succumb to it during the neonatal period will, by age 10 years, more often than not, require nephrectomy+renal replacement therapy for ...
Goldberg, Itzhak D. +3 more
arxiv +10 more sources
Autosomal recessive polycystic kidney disease [PDF]
American Journal of Obstetrics and Gynecology, 2021 Kate Swanson
semanticscholar +4 more sources
Phenotypic Variability in Siblings With Autosomal Recessive Polycystic Kidney Disease. [PDF]
Kidney Int Rep, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is a rare monogenic disorder characterized by early onset fibrocystic hepatorenal changes. Previous reports have documented pronounced phenotypic variability even among siblings in terms of patient survival.
Ajiri R +25 more
europepmc +11 more sources
Early clinical management of autosomal recessive polycystic kidney disease. [PDF]
Pediatr Nephrol, 2021 AbstractAutosomal recessive polycystic kidney disease (ARPKD) is a rare but highly relevant disorder in pediatric nephrology. This genetic disease is mainly caused by variants in the PKHD1 gene and is characterized by fibrocystic hepatorenal phenotypes with major clinical variability.
Liebau MC.
europepmc +6 more sources
Multiple Cerebral Aneurysms in an Adult With Autosomal Recessive Polycystic Kidney Disease. [PDF]
Kidney Int Rep, 2021 [Extract] Autosomal recessive polycystic kidney disease(ARPKD) is a rare form offibrocystic kidneydisease that affects approximately 1 in 20,000 live births.
Gately R +5 more
europepmc +5 more sources
Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review. [PDF]
BMC Pregnancy Childbirth, 2021 Background Both Caroli disease (CD) and autosomal recessive polycystic kidney disease (ARPKD) are autosomal recessive disorders, which are more commonly found in infants and children, for whom surviving to adulthood is rare.
Yao X +7 more
europepmc +4 more sources
Predictors of progression in autosomal dominant and autosomal recessive polycystic kidney disease. [PDF]
Pediatr Nephrol, 2021 Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are characterized by bilateral cystic kidney disease leading to progressive kidney function decline. These diseases also have distinct liver manifestations.
Benz EG, Hartung EA.
europepmc +5 more sources
Autosomal recessive polycystic kidney disease [PDF]
Nephrology Dialysis Transplantation, 1996 Autosomal recessive polycystic kidney disease (ARPKD) is a rare inherited disorder which usually becomes clinically manifest in early childhood. With increasing knowledge and improving diagnostic techniques it has become evident that the spectrum of ARPKD is much more variable than was previously thought.
Klaus Zerres +3 more
semanticscholar +7 more sources
AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
Slovenska pediatrija, revija pediatrov Slovenije in specialistov šolske ter visokošolske medicine Slovenije, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin. Mutations lead to primary cilia dysfunction, which predominantly affects the kidneys and hepatobiliary system.
Anja Fon Gabršček, Rina Rus
openaire +3 more sources