Frontiers in Pediatrics, 2018 Introduction: Autosomal recessive polycystic kidney disease (ARPKD) is a severe hepatorenal disorder of childhood. Early renal disease in ARPKD may require renal replacement therapy and is associated with failure to thrive resulting in a need for ...
Kathrin Burgmaier +10 more
doaj +3 more sources
EBioMedicine, 2019 Background: Autosomal Recessive Polycystic Kidney Disease (ARPKD) is marked by cyst formation in the renal tubules, primarily in the collecting duct (CD) system, ultimately leading to end-stage renal disease.
Daria V. Ilatovskaya +8 more
doaj +2 more sources
Characterization of purinergic receptor expression in ARPKD cystic epithelia [PDF]
Purinergic Signalling, 2018 Polycystic kidney diseases (PKDs) are a group of inherited nephropathies marked by formation of fluid-filled cysts along the nephron. Growing evidence suggests that in the kidney formation of cysts and alteration of cystic electrolyte transport are associated with purinergic signaling.
Oleg Palygin +7 more
core +4 more sources
A proposed classification for standardized reporting of liver disease in children with autosomal recessive polycystic kidney disease. [PDF]
JPGN RepJPGN Reports, Volume 7, Issue 3, Page 477-478, August 2026.
Kurkal K, Gupte GL.
europepmc +2 more sources
Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader <i>PKHD1</i>-Associated Disease Spectrum. [PDF]
Genes (Basel)Background/Objectives: Autosomal recessive polycystic kidney disease (ARPKD) is a severe ciliopathy caused by biallelic pathogenic variants in PKHD1, characterized by variable renal and hepatobiliary involvement.
Lapunzina-Soler P +12 more
europepmc +2 more sources
Broadening horizons: Pathogenesis and therapeutics of renal ciliopathies. [PDF]
J Cell Commun SignalThis review elucidates the molecular mechanisms and aberrant signaling pathways in renal ciliopathies, links genetic heterogeneity to clinical phenotypes, and lays a theoretical basis for prenatal diagnosis and novel therapies. Abstract Renal ciliopathies encompass a spectrum of genetic disorders arising from structural or functional impairments of ...
Zhang Q +7 more
europepmc +2 more sources
A Rare PKHD1 Frameshift Variant Identified in a Prenatally Diagnosed ARPKD Case From a Consanguineous Jordanian Family. [PDF]
Case Rep Obstet GynecolIntroduction Polycystic kidney disease (PKD) is a condition that encompasses the development of multiple benign cysts in the kidneys and other organs. Hereditary PKD can be classified as autosomal dominant polycystic kidney disease (ADPKD) or autosomal recessive polycystic disease (ARPKD).
Al-Kuran O +5 more
europepmc +2 more sources
Journal of the American Society of Nephrology, 2008 Superficially, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) seem to be more different than alike. ADPKD is common, its cysts arise from any nephron segment, and it is slowly progressive.[1][1] Hepatic cysts are its primary ...
Jun-ya Kaimori, Gregory G. Germino
openaire +2 more sources
An investigation of the Ciliary Protein PKHD1 in Cyst development in liver disease: clues to the pathogenesis of Biliary Atresia [PDF]
, 2010 Biliary atresia is a common form of paediatric liver disease, with progressive, inflammatory obliteration of the biliary tree, leading to liver failure early in life.
Blair-Reid, Sarah Alexandra
core +7 more sources
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD [PDF]
, 2021 Autosomal recessive polycystic kidney disease (ARPKD) is characterized by bilateral fibrocystic changes resulting in pronounced kidney enlargement. Impairment of kidney function is highly variable and widely available prognostic markers are urgently ...
Kilian, Samuel +11 more
core +5 more sources