Results 211 to 220 of about 23,951 (234)

Autosomal Recessive Polycystic Kidney in Rats

Nephron, 1991
We evaluated the characteristics of renal lesions in rat autosomal recessive polycystic kidney (ARPK). In rat ARPK, small cysts appeared primarily in the medulla 2 months after birth and gradually extended to the cortex, forming large cysts involving the entire layer after 8 months.
Z, Inage, Y, Kikkawa, M, Minato, M, Owada, T, Kitagawa, K, Ohno, K, Kondo, Y, Ueda, K, Iidaka   +8 more
openaire   +2 more sources

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

American Journal of Kidney Diseases
RATIONALE & OBJECTIVE Autosomal recessive polycystic kidney disease (ARPKD) is typically caused by biallelic PKHD1 mutations. However, some clinically diagnosed patients remain without a molecular diagnosis.
Nadav Agam, O. Wormser, Ari Biller, N. Hadar, V. Dolgin, Ofek Freund, Matan M Jean, Amit Safran, Tomer Poleg, B. Kanengisser-Pines, Rebekka Kebesch-Assi, Masha Mazor-Oring, O. Cohen-Zontag, Michal Zmudjak-Olevson, Shlomit Ben-Menachem, Dror Ben-Ruby, Omer Shlomovitz, A. Vivante, Benjamin Dekel, Ohad S Birk, Ruth Schreiber   +20 more
semanticscholar   +1 more source

A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney Disease.

American Journal of Kidney Diseases
The etiologies of newborn deaths in neonatal intensive care units usually remain unknown, even following genetic testing. Whole-genome sequencing, combined with artificial intelligence-based methods for predicting the effects of non-coding variants ...
Felix Richter, Kayleigh D. Rutherford, Anisha J. Cooke, M. Meshkati, Vanessa Eddy-Abrams, D. Greene, Jordana Kosowsky, Yeaji Park, Surabhi Aggarwal, Rebecca J. Burke, Weili Chang, Jillian Connors, Peter J. Giannone, T. Hays, Divya Khattar, Mark Polak, Liana Senaldi, Matthew Smith-Raska, Shanthy Sridhar, Laurie Steiner, Jonathan R. Swanson, Kate A. Tauber, Mafalda Barbosa, Katherine F. Guttmann, E. Turro   +24 more
semanticscholar   +1 more source

Autosomal recessive polycystic kidney disease

The Clinical Investigator, 1992
Autosomal recessive polycystic kidney disease is a rare inherited disorder which usually becomes clinically manifest in early childhood, whereas autosomal dominant polycystic kidney disease usually is a disorder of adult onset. With increasing knowledge and improving diagnostic techniques, it becomes evident that the spectrum of both entities is much ...
openaire   +2 more sources

Autosomal Recessive Polycystic Kidney Disease

1990
Autosomal recessive polycystic kidney disease (ARPKD) is a specific disease of the kidneys and liver, characterized by renal collecting tubule ectasia and invariably accompanied by biliary dysgenesis and portal fibrosis. In the past the disease has been called “infantile” polycystic kidney disease because of the predominant presentation in infancy.
Bernard S. Kaplan, Paige Kaplan
openaire   +2 more sources

[Autosomal recessive polycystic kidney].

Vutreshni bolesti, 1990
A case of a 22 years old woman with autosomal-recessive form of kidney polycystosis is presented. The diagnosis was made in early childhood. A combination of renal anomaly and hepatic fibrosis with manifestations of portal hypertension was present. No deviations from the other internal organs were found.
V, Todorov, S, Penkova, I, Lalev
openaire   +1 more source

Intrahepatic bile ductal ectasia in autosomal recessive polycystic kidney disease evaluated by fetal magnetic resonance imaging: a more frequent complication

Journal of Maternal-Fetal & Neonatal Medicine, 2020
Objective This study aimed to evaluate liver malformations and intrahepatic bile ductal ectasia and dilatation (IBDED) in cases of prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD) using magnetic resonance imaging (MRI). Methods
T. Fazecas, P. Castro, A. P. Matos, E. Marchiori, H. Werner, E. Araújo Júnior   +5 more
semanticscholar   +1 more source

Autosomal recessive polycystic kidney disease

2015
Autosomal recessive polycystic kidney disease (ARPKD) is an important cause of childhood renal- and liver-related morbidity and mortality with variable disease expression. Many patients manifest peri- or neonatally with a mortality rate of 30–50%, whereas others survive to adulthood with only minor clinical features.
Carsten Bergmann, Klaus Zerres
openaire   +1 more source

Autosomal Recessive Polycystic Kidney Diseases

2021
Max C. Liebau, Lisa M. Guay-Woodford
openaire   +1 more source

Autosomal Recessive Polycystic Kidney Disease

2004
Abstract Autosomal recessive polycystic kidney disease (ARPKD) is an often devastating form of polycystic kidney disease. The typical onset occurs in neonates and infants and is characterized by cystic dilatation of the renal collecting ducts and dysgenesis of the biliary ductal plate.
openaire   +1 more source