Results 51 to 60 of about 17,412 (221)

The molecular structure and function of fibrocystin, the key gene product implicated in autosomal recessive polycystic kidney disease (ARPKD)

open access: yesAnnals of Human Genetics, 2023
Autosomal recessive polycystic kidney disease is an early onset inherited hepatorenal disorder affecting around 1 in 20,000 births with no approved specific therapies. The disease is almost always caused by variations in the polycystic kidney and hepatic
Travis A K Bannell, Joseph J B Cockburn
semanticscholar   +1 more source

A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

open access: yesFrontiers in Genetics, 2023
Objective: Variants of the polycystic kidney and hepatic disease 1 (PKHD1) gene are associated with autosomal recessive polycystic kidney disease (ARPKD).
Mingzhu Miao   +6 more
semanticscholar   +1 more source

A human multi-lineage hepatic organoid model for liver fibrosis

open access: yesNature 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   +15 more
doaj   +1 more source

Kidney Disease Progression in Autosomal Recessive Polycystic Kidney Disease [PDF]

open access: yesThe Journal of Pediatrics, 2016
To define glomerular filtration rate (GFR) decline, hypertension (HTN), and proteinuria in subjects with autosomal recessive polycystic kidney disease (ARPKD) and compare with 2 congenital kidney disease control groups in the Chronic Kidney Disease in Children cohort.GFR decline (iohexol clearance), rates of HTN (ambulatory/casual blood pressures ...
Katherine M. Dell   +64 more
openaire   +3 more sources

Management of delivery of a fetus with autosomal recessive polycystic kidney disease: a case report of abdominal dystocia and review of the literature

open access: yesJournal 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

Congenital hepatic fibrosis in the Franches-Montagnes horse is associated with the polycystic kidney and hepatic disease 1 (PKHD1) gene. [PDF]

open access: yesPLoS 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

Portal hypertension syndrome in children with autosomal recessive polycystic kidney disease with liver cysts and hepatic fibrosis

open access: yesRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics), 2023
Hepatic fibrosis, liver cysts, and portal hypertension are extrarenal manifestations that determine the prognosis of autosomal recessive polycystic kidney disease in children.Purpose. To assess the features of the manifestation and course of liver cystic
E. Andreeva   +3 more
semanticscholar   +1 more source

Risk Factors for Neurocognitive Functioning in Children with Autosomal Recessive Polycystic Kidney Disease

open access: yesFrontiers 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

Fetal polycystic kidney disease: Pathological overview

open access: yesJournal 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

Autosomal recessive polycystic kidney disease.

open access: yesNephrology, Dialysis and 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 ...
Klaus Zerres   +3 more
semanticscholar   +1 more source

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