Results 101 to 110 of about 2,905 (217)

Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses

Frontiers in Pediatrics, 2018
Autosomal recessive polycystic kidney disease (ARPKD) is a hepatorenal fibrocystic disorder that is characterized by enlarged kidneys with progressive loss of renal function and biliary duct dilatation and congenital hepatic fibrosis that leads to portal
Carsten Bergmann, Carsten Bergmann
doaj   +1 more source

Molecular and cellular pathogenesis of autosomal recessive polycystic kidney disease

Brazilian Journal of Medical and Biological Research, 2006
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disease characterized by a malformation complex which includes cystically dilated tubules in the kidneys and ductal plate malformation in the liver.
L.F. Menezes, L.F. Onuchic
doaj  

Knockout of P2rx7 purinergic receptor attenuates cyst growth in a rat model of ARPKD.

AJP - Renal Physiology, 2019
The severity of polycystic kidney diseases depends on the counterbalancing of genetic predisposition and environmental factors exerting permissive or protective influence on cyst development.
S. Arkhipov, D. Potter, A. Geurts, T. Pavlov   +3 more
semanticscholar   +1 more source

Caroli's Disease: Current Knowledge of Its Biliary Pathogenesis Obtained from an Orthologous Rat Model

International Journal of Hepatology, 2012
Caroli's disease belongs to a group of hepatic fibropolycystic diseases and is a hepatic manifestation of autosomal recessive polycystic kidney disease (ARPKD).
Yasunori Sato, Xiang Shan Ren, Yasuni Nakanuma   +2 more
doaj   +1 more source

Renal cystic disease (ADPKD and ARPKD) [PDF]

Nephrology Dialysis Transplantation, 2002
Anna-Maria, Nahm, Daniel Ernesto, Henriquez, Eberhard, Ritz   +2 more
openaire   +2 more sources

Tissue-specific regulation of the mousePkhd1(ARPKD) gene promoter

American Journal of Physiology-Renal Physiology, 2014
Autosomal recessive polycystic kidney disease, an inherited disorder characterized by the formation of cysts in renal collecting ducts and biliary dysgenesis, is caused by mutations of the polycystic kidney and hepatic disease 1 ( PKHD1) gene. Expression of PKHD1 is tissue specific and developmentally regulated.
Scott S, Williams, Patricia, Cobo-Stark, Sachin, Hajarnis, Karam, Aboudehen, Xinli, Shao, James A, Richardson, Vishal, Patel, Peter, Igarashi   +7 more
openaire   +3 more sources

Signifance of Liver Ductal Plate Malformation in Differential Diagnosis of Autosomal Recessive Polycystic Kidney Disease: An Autopsy Case

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2015
Cystic renal diseases are a group of disorders that cause neonatal deaths. Autosomal recessive polycystic kidney disease (ARPKD) is a rare entity which may be associated with liver disorders.
Kivilcim Eren Erdogan, Sevil Karabag, seyda Erdogan, Figen Doran   +3 more
doaj  

Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD) [PDF]

, 2018
Sophie Haumann, Kathrin Burgmaier, Carsten Bergmann, Roman Ulrich Müller, Max C. Liebau   +4 more
openalex   +1 more source

Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease

Case Reports in Genetics, 2014
We report a 29-year-old gravida 2, para 0100, who presented at 19 weeks and 4 days of gestation for ultrasound to assess fetal anatomy. Routine midtrimester fetal anatomy ultrasound revealed enlarged, hyperechoic fetal kidneys and normal amniotic fluid ...
Pankaj Thakur, Paul Speer, Aleksandar Rajkovic   +2 more
doaj   +1 more source

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

, 2014
Carsten Bergmann
openalex   +1 more source