Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury [PDF]
, 2009 Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and accounts for 10% of all patients on renal replacement therapy. The kidney disease phenotype is primarily characterized by cyst formation, but there are
Haylor, J.L. +4 more
core +2 more sources
Molecular Pathophysiology of Autosomal Recessive Polycystic Kidney Disease
International Journal of Molecular Sciences, 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.
Adrian Cordido +2 more
openaire +2 more sources
Fetal polycystic kidney disease: Pathological overview
Journal of the Scientific Society, 2013 Polycystic kidney disease is a rare developmental anomaly inherited as autosomal dominant or autosomal recessive. It is characterized by cystic dilatation of the collecting ducts frequently associated with hepatic involvement and progression to renal ...
Sunita B Patil +3 more
doaj +1 more source
Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]
PLoS ONE, 2014 Congenital hepatic fibrosis has been described as a lethal disease with monogenic autosomal recessive inheritance in the Swiss Franches-Montagnes horse breed.
Michaela Drögemüller +15 more
doaj +1 more source
Vasopressin regulates the growth of the biliary epithelium in polycystic liver disease [PDF]
, 2016 The neurohypophysial hormone arginine vasopressin (AVP) acts by three distinct receptor subtypes: V1a, V1b, and V2. In the liver, AVP is involved in ureogenesis, glycogenolysis, neoglucogenesis and regeneration. No data exist about the presence of AVP in
Alpini, Gianfranco +11 more
core +1 more source
Journal of Medical Case Reports, 2019 Background Autosomal recessive renal polycystic kidney disease occurs in 1 in 20,000 live births. It is caused by mutations in both alleles of the PKHD1 gene.
Sarah Belin +6 more
doaj +1 more source
Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic [PDF]
, 1996 Evidence that two phenotypically distinct mouse PKD mutations, bpk and jcpk, are allelic. Numerous mouse models of polycystic kidney disease (PKD) have been described.
Avner, Ellis D. +7 more
core +1 more source
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
Dominant and Recessive Polycystic Kidney Disease: A Novel Molecular Diagnostics Approach Based on Next-Generation Sequencing [PDF]
, 2017 Polycystic Kidney Disease (PKD) is the most common genetic cause of kidney failure in children and adults and can be inherited as an autosomal dominant trait (ADPKD) or an autosomal recessive trait (ARPKD). ADPKD is the most common form, characterized by
Minardi, Raffaella <1987>
core +1 more source
Clinical aspects of autosomal recessive polycystic kidney disease [PDF]
, 2010 INTRODUÇÃO: A Doença Renal Policística Autossômica Recessiva (DRPAR) é uma causa importante de morbidade e mortalidade pediátricas, com um espectro variável de manifestações clínicas. MÉTODOS: A apresentação e evolução clínica de 25 pacientes (Pts) foram
DIAS, Natasha Favoretto +3 more
core +2 more sources