Results 31 to 40 of about 4,765 (160)

Polycystic Kidney Disease Drug Development: A Conference Report

open access: yesKidney Medicine, 2023
Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau   +4 more
doaj  

ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies [PDF]

open access: yes, 2014
Renal cysts are clinically and genetically heterogeneous conditions. Polycystic kidney disease (PKD) is common and its characterization has paved the way for the identification of a growing number of cilia-related disorders (ciliopathies) of which most ...
Carsten Bergmann
core   +1 more source

Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]

open access: yes, 2018
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre   +10 more
core   +2 more sources

Compound heterozygosity of a de novo submicroscopic deletion and an inherited frameshift pathogenic variant in the PKHD1 gene in a fetus with bilaterally enlarged and echogenic kidneys, enlarged abdomen and oligohydramnios

open access: yesClinical Case Reports, 2023
We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1.
Takuya Sakyu   +7 more
doaj   +1 more source

Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats [PDF]

open access: yes, 2004
Epidermal growth factor receptor tyrosine kinase inhibition is not protective in PCK rats.BackgroundAdvances in the understanding of cystogenesis, identification of the PKHD1 gene and availability of a rat model (the PCK rat) caused by a Pkhd1 mutation ...
Avner, Ellis D.   +6 more
core   +1 more source

Role of CFTR in Autosomal Recessive Polycystic Kidney Disease [PDF]

open access: yesJournal of the American Society of Nephrology, 2001
Abstract. An extensive body of in vitro data implicates epithelial chloride secretion, mediated through cystic fibrosis transmembrane conductance regulator (CFTR) protein, in generating or maintaining fluid filled cysts in MDCK cells and in human autosomal dominant polycystic kidney disease (ADPKD).
Ellis D. Avner   +4 more
openaire   +2 more sources

Autosomal recessive polycystic kidney disease (ARPKD) in a Nigerian newborn: a case report

open access: yesThe Pan African Medical Journal, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder but even rarer in Africans and it is one of the causes of nephropathies in childhood.
Olufunke Bolaji   +6 more
doaj   +1 more source

Renal cysts in children: a single centre study

open access: yesPediatria i Medycyna Rodzinna, 2018
Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska   +5 more
doaj   +1 more source

Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease [PDF]

open access: yes, 1990
In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks).
Niermeijer, M.F. (Martinus)   +3 more
core   +2 more sources

Autopsy Report with Clinical and Pathophysiologic Discussion of Autosomal Dominant Adult Polycystic Kidney Disease

open access: yesCase Reports in Urology, 2014
The average weight of a kidney is approximately 135 gm, measuring on average 10 × 6 × 4 cm. In hereditary conditions, autosomal dominant and autosomal recessive polycystic kidney disease, the shape, size, and the weight can be significantly abnormal ...
Anup Hazra   +3 more
doaj   +1 more source

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